Disease #00298 (FDH (hypoplasia, dermal, focal (FDH)), OMIM:305600)

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Disease #00298 (FDH (hypoplasia, dermal, focal (FDH)), OMIM:305600)

Official abbreviation FDH

Name hypoplasia, dermal, focal (FDH)

OMIM ID 305600

Human Phenotype Ontology Project (HPO) HPO

Inheritance X-linked dominant

Individuals reported having this disease 219

Phenotype entries for this disease 218

Associated with 1 gene PORCN

Associated tissues -

Disease features X-linked dominant

Remarks -

Date created 2014年01月17日 19:02:50 +01:00 (CET)

Date last edited 2021年12月10日 21:51:32 +01:00 (CET)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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combination Numeric >=20 <30 !23 all entries with values from 20 to 29, but not equal to 23

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Example Matches

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219 entries on 3 pages. Showing entries 1 - 100.

Legend How to query « First ‹ Prev 1 2 3 Next › Last »

AscendingIndividual ID

ID_report

Reference

Remarks

Gender

Consanguinity

Country

Population

Age at death

VIP

Data_av

Treatment

Disease

Phenotype details

Genes screened

Variants in genes

Variants

Panel size

Owner

00004220 - - - M no (Belgium) white 00y00m00d - - - FDH microphthalmia; coloboma of the retina; left-sided posterolateral diaphragmatic hernia; atrial septal defect (ASD); deceased day 0. PORCN PORCN 1 1

User ID 00574

Name Paul Brady

Email address paul.brady@med.kuleuven.be

Institute KU Leuven

Department Centre for Human Genetics

Country BE

', this, [-200, 0]);">Paul Brady

00004221 - - - M no (Belgium) white 00y00m10d - - - FDH bilateral microphthalmia; dense intra-ocular tissue; large thoraco-lumbar spina bifida; hydronephrosis of left kidney; hypospadias; disarrayed toes; deceased day 10 due to respiratory insufficiency. PORCN PORCN 1 1

User ID 00574

Name Paul Brady

Email address paul.brady@med.kuleuven.be

Institute KU Leuven

Department Centre for Human Genetics

Country BE

', this, [-200, 0]);">Paul Brady

00004223 - - skewed X-inactivation; 70/30 F no (Belgium) white >08y - - - FDH cutis aplasia of the scalp PORCN PORCN 1 1

User ID 00574

Name Paul Brady

Email address paul.brady@med.kuleuven.be

Institute KU Leuven

Department Centre for Human Genetics

Country BE

', this, [-200, 0]);">Paul Brady

00004224 - - skewed X-inactivation; 88/18 F no (Belgium) white >05y - - - FDH normal; no phenotypic features PORCN PORCN 1 1

User ID 00574

Name Paul Brady

Email address paul.brady@med.kuleuven.be

Institute KU Leuven

Department Centre for Human Genetics

Country BE

', this, [-200, 0]);">Paul Brady

00231006 36-II-1 - - F no Japan - - - - - FDH , Hyperpigmentation, nodular fat herniation, ridged dysplastic nails, dental malformations PORCN PORCN 1 1

User ID 01962

Name Kaori Yamoto

Email address kaori.ymt103@gmail.com

Institute Hamamatsu University School of Medicine

Department Pediatrics

Country JP

', this, [-200, 0]);">Kaori Yamoto

00233852 - PubMed: Lombardi 2011', this);">PubMed: Lombardi 2011 - F - Netherlands white - - - - FDH no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233853 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252); mental retardation (HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233854 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH camptodactyly, R preauricular appendage, umbilical hernia, low set ears, aniridia, glaucoma, thorax deformation, gastro esophageal reflux, large clitoris, hypoplastic labia; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); mental retardation (HP:0001249); IUGR (HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233855 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH developmental delay, yes; skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microcephaly (HP:0000252); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233856 Proband 2 PubMed: Clements 2009', this);">PubMed: Clements 2009 adopted F - United Kingdom (Great Britain) white - - - - FDH lower limb hypoplasia, osteoporosis, ostheoarthritis, hearing loss, strabismus, giant cell tumour of bone; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677); hypohidrosis (HP:0000966) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233857 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 mother of FDH3b F - - - - - - - FDH short stature, one abortion, due to limb defects, 5 spontaneous; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); no syndactyly (-HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no omphalocele (-HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233858 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 daughter of FDH3a F - - - - - - - FDH hypoplastic R thumb, rudimentary preaxial polydactyly R, preauricular appendages, hypoplastic labia; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); heart defect (HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233859 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233860 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233861 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH clino-campodactyly R 5th finger, dental defects, strabismus, hypermetropia, asymmetric face, bulbous nasal tip, dorsal lymphedema of feet in infancy, single transverse crease on R palm; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), papilloma periorally (HP:0040167); no syndactyly (-HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), tear duct obstruction (HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627); mental retardation (HP:0001249); omphalocele (HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233862 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH dental defects, esophageal papillomas; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; osteopathia striata (HP:001074) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233863 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH Blashkolinear pigmentation, costovertebral dyssegmentation, diastasis pubis; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); microphthalmia (HP:0000568); microcephaly (HP:0000252); mental retardation (HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233864 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233865 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH coloboma iris and choroidea; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); omphalocele (HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233866 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH dental defects, clinodactily; skin hypoplasia (HP:0008065); oligodactyly (HP:0012165); has oral features; microcephaly (HP:0000252); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233867 1 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - Netherlands white - - - - FDH hyperhidrosis, bicuspid aortic valve, renal reflux ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), polydactyly (HP:0010442); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627), displaced anus (HP:0004397); no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), caudal appendage (HP:0002825), acral abnormalities, occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233868 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - M - - - - - - - FDH skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233869 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH dental defects, esophageal papillomas; skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); has oral features; PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233870 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mental retardation (HP:0001249); osteopathia striata (HP:001074) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233871 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH unilateral hexadactyly; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233872 - communicated by MP Lombardi - F - United Kingdom (Great Britain) white - - - - FDH sacral dimple; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ; no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), ND; PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233873 patient 1 PubMed: Leoyklang 2009', this);">PubMed: Leoyklang 2009 - F - Thailand Thai - - - - FDH aniridia, R nipple absent, deformities of ribs; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); no kidney malformation (-HP:0012210); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233874 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH dental defects, anophthalmia, hearing loss; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233875 case report PubMed: Schaffer 2009', this);">PubMed: Schaffer 2009 - F - Ecuador - - - - - FDH syringocystadenoma papilliferum, blashkolinear streaks of dermal hyperpigmentation, telangiectasias, hyperpigmented macules, soft yellow nodules; skin hypoplasia (HP:0008065); skeletal defects (HP:0011842); has oral features; eye anomalies (HP:0000478); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233876 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH coloboma R iris; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233877 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH bilateral blindness, hearing loss, facial cleft, absence deformities of bones, brain defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202); significantly decreased vision (HP:0000572); microcephaly (HP:0000252); mental retardation (HP:0001249); omphalocele (HP:0001539) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233878 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH diastasis pubis, costovertebral dyssegmentation; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); microphthalmia (HP:0000568); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233879 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - M - - - - - - - FDH dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; coloboma (HP:0000589); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233880 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH optic atrophy; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), hydronephrosis (HP:0000126), displaced anus (HP:0004397); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233881 10 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - Netherlands white - - - - FDH ala nasi coloboma, 2 ear tags, ASD; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); hydronephrosis (HP:0000126), heart defect (HP:0001627); occipitofrontal circumference less than P3-P10 (HP:0040195), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233882 2 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - United Kingdom (Great Britain) white - - - - FDH unilateral absent clavicle, breast cancer in underdeveloped mamma; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233883 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 mother and grandmother possibly affected F - - - - - - - FDH R leg shorter, Lymphedema, teleangiectasia, fibroma, bony cyst of fibula; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); hydronephrosis (HP:0000126), no heart defect (-HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233884 3 PubMed: Maas 2009', this);">PubMed: Maas 2009 - M - United Kingdom (Great Britain) white - - - - FDH unilateral ptosis, midline skin hypoplasia trunc, hearing loss, ala nasi coloboma, irregular vermillion ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), yes; thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233885 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH skin hypoplasia (HP:0008065), fat herniation (HP:0008441); microphthalmia (HP:0000568); mental retardation (HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233886 6 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - Netherlands white - - - - FDH lymphedema legs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); major internal organs anomalies; occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), hypohidrosis (HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233887 Patient 2 PubMed: Leoyklang 2009', this);">PubMed: Leoyklang 2009 c[.682C>T; 737_738insA] mutations are on same allele F - Thailand Thai - - - - FDH midface hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257), skeletal defects (HP:0011842); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322) PORCN PORCN 2 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233888 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH horseshoe kidney, mitral valve prolapse; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); major internal organs anomalies; omphalocele (HP:0001539) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233889 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233890 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH hypoplastic left heart, lethal outcome ; no patchy alopecia (-HP:0002232), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627); omphalocele (HP:0001539), IUGR (HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233891 - communicated by MP Lombardi - F - United Kingdom (Great Britain) - - - - - FDH has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478); PORCN PORCN 1 1

User ID 02310

Name Raoul Hennekam

Email address R.C.Hennekam@amc.uva.nl

Institute Academic Medical Center

Department Pediatrics

Country NL

', this, [-200, 0]);">Raoul Hennekam

00233892 - PubMed: Smigiel 2011', this);">PubMed: Smigiel 2011 born 09-02-2009 F - Poland white - - - - FDH Pentalogy of Cantrell, absence lower sternum, ectopia cordis, multiple limb malformations, anophtalmia (bilateral), agenesis corpus callosum, colpocephaly, unil. hear loss, bifid nose; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); , cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572); no heart defect (-HP:0001627), displaced anus (HP:0004397); mental retardation (HP:0001249); omphalocele (HP:0001539), caudal appendage (HP:0002825), IUGR (HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233893 - PubMed: Lombardi 2011', this);">PubMed: Lombardi 2011 born 05-12-2009 F - Sweden white - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233894 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH hexadactyly; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233895 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); oligodontia (HP:0000677); coloboma (HP:0000589); no mental retardation (-HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233896 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); coloboma (HP:0000589); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233897 Proband 1 PubMed: Clements 2009', this);">PubMed: Clements 2009 - F - United Kingdom (Great Britain) white - - - - FDH mid facial hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), scoliosis (HP:0002650), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); thin protruding ear (HP:0000411); omphalocele (HP:0001539) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233898 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH dental defects, caudal cord defects; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202), yes; coloboma (HP:0000589); mental retardation (HP:0001249); omphalocele (HP:0001539) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233899 11 PubMed: Maas 2009', this);">PubMed: Maas 2009 sister of 12 F - Netherlands white - - - - FDH no additional features; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233900 12 PubMed: Maas 2009', this);">PubMed: Maas 2009 sister of 11 F - Netherlands white - - - - FDH ala nasi coloboma; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233901 patient 1 PubMed: Clements 2008', this);">PubMed: Clements 2008 - F - Thailand Thai - - - - FDH dental caries; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; osteopathia striata (HP:001074) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233902 - PubMed: Lombardi 2011', this);">PubMed: Lombardi 2011 - F - Sweden - - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no mental retardation (-HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233903 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); osteopathia striata (HP:001074) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233904 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mammary hypoplasia in adults (HP:0003187) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233905 8 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - Netherlands white - - - - FDH hearing loss, thoracic wall abnormalities; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233906 8.1 PubMed: Maas 2009', this);">PubMed: Maas 2009 fetus (of pat 8) F - Netherlands white - - - - FDH ectopia cordis, ala nasi coloboma, bilat renal agenesis, bilat fibula agenesis, anal atresia, diaphr hernia, butterfly T6, abdominal wall defect; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no cleft lip/palate (-HP:0000202); microphthalmia (HP:0000568); kidney malformation (HP:0012210), heart defect (HP:0001627); no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233907 - PubMed: Lombardi 2011', this);">PubMed: Lombardi 2011 - F - Denmark white - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233908 - PubMed: Froyen 2009', this);">PubMed: Froyen 2009 - F - Belgium white - - - - FDH dental anomalies; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233909 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); osteopathia striata (HP:001074) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233910 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH tooth anomalies, diastasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233911 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233912 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - M - - - - - - - FDH Blashkolinear pigmentation, tooth anomalies; skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); has oral features; PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233913 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233914 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - M - - - - - - - FDH Blashkolinear pigmentation; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); no mental retardation (-HP:0001249); osteopathia striata (HP:001074) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233915 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 mother has skin linear lesions F - - - - - - - FDH dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233916 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH dental defects, bilateral coloboma iris and retina, inguinal hernia, umbilical hernia, moderate hearing deficit, acute lymphatic leukemia, strabismus; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441), yes; syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); no mental retardation (-HP:0001249); IUGR (HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233917 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - M - - - - - - - FDH costovertebral dyssegmentation, distasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); no osteopathia striata (-HP:001074) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233918 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233919 13 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - United Kingdom (Great Britain) white - - - - FDH unilat extra nipple; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233920 Patient 3 PubMed: Leoyklang 2009', this);">PubMed: Leoyklang 2009 - F - Thailand Thai - - - - FDH bilateral anophtalmos split sternum, absent nail L 2nd finger, ; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), scoliosis (HP:0002650), ectrodactyly (HP:0100257); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); mental retardation (HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233921 - PubMed: Froyen 2009', this);">PubMed: Froyen 2009 - F - Finland white - - - - FDH dental anomalis; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257); has oral features; no microphthalmia (-HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233922 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - M - - - - - - - FDH has additional features; skin hypoplasia (HP:0008065); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233923 - PubMed: Wang 2007', this);">PubMed: Wang 2007 - F - - - - - - - FDH skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233924 14 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - United Kingdom (Great Britain) white - - - - FDH no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233925 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH hearing loss; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); omphalocele (HP:0001539) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233926 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH abdominal wall defect+bladder ectopia, single umbilical artery, lateral displacement of pubic bones; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); mental retardation (HP:0001249); IUGR (HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233927 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - M - - - - - - - FDH optic atrophy, dental defects, inguinal hernia, seizures; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233928 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH clinodactyly, dental defects, asymmetric face; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no heart defect (-HP:0001627), ND; no omphalocele (-HP:0001539), no IUGR (-HP:0001511), ND PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233929 9 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - Netherlands white - - - - FDH unilat aplasia fibula, dermal hypoplasia only lower limbs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202), yes; thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ND; occipitofrontal circumference not less than P3-P10 (-HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233930 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH skin hypoplasia (HP:0008065); scoliosis (HP:0002650), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); coloboma (HP:0000589); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233931 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233932 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH pulmonic atresia, atrial and ventricular septal defects,overriding aorta, umbilical hernia, low set ears, orbital cyst, brachycephaly, pachygyria, abnormal EEG, uterus and vaginal aplasia, lethal outcome ; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627), ND; IUGR (HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233933 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - M - - - - - - - FDH sacral dimple; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), polydactyly (HP:0010442), assymmetrical skeletal defects (HP:0011842); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233934 - PubMed: Harmsen 2009', this);">PubMed: Harmsen 2009 - F - - - - - - - FDH hypoplastic thumbs, bladder extrophy, horshoe kidney, no periauricular appendages; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), ND; mental retardation (HP:0001249); no omphalocele (-HP:0001539), height less than P3-P10 (HP:0004322), IUGR (HP:0001511) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233935 4 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - United Kingdom (Great Britain) white - - - - FDH telangiectasias; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no enamel hypoplasia (-HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), caudal appendage (HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233936 5 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - Slovenia white - - - - FDH has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no enamel hypoplasia (-HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233937 5.1 PubMed: Maas 2009', this);">PubMed: Maas 2009 fetus 1 (of pat 5) F - Slovenia white - - - - FDH unilateral agenesis kidney,ectopia cordis, ala nasi coloboma, VSD, diaphr abnor, abdom wall defects, supracerebellar cyst; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233938 5.2 PubMed: Maas 2009', this);">PubMed: Maas 2009 fetus 2 (of pat 5) F - Slovenia white - - - - FDH unilateral agenesis kdney, two ear tags, midline skin defect trunk; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); omphalocele (HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), acral abnormalities PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233939 7 PubMed: Maas 2009', this);">PubMed: Maas 2009 - F - Netherlands white - - - - FDH has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233940 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233941 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233942 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); mammary hypoplasia in adults (HP:0003187) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233943 - PubMed: Bornholdt 2009', this);">PubMed: Bornholdt 2009 - F - - - - - - - FDH skin hypoplasia (HP:0008065); oligodactyly (HP:0012165); eye anomalies (HP:0000478); omphalocele (HP:0001539) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233944 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); mammary hypoplasia in adults (HP:0003187) PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233945 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

00233946 - PubMed: Grzeschik 2007', this);">PubMed: Grzeschik 2007 - F - - - - - - - FDH tetralogy of Fallot; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); heart defect (HP:0001627); PORCN PORCN 1 1

User ID 00577

Name Maria Paola Lombardi

Email address m.p.lombardi@amc.uva.nl

Institute Academic Medical Center

Department Clinical genetics

Country NL

', this, [-200, 0]);">Maria Paola Lombardi

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