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.
How to query this table
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Example
Matches
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Arg
all entries containing 'Arg'
space
Text
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all entries not containing 'fs'
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all entries beginning with 'p.(Arg'
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all entries ending with 'Ser)'
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=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
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Text
!=""
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!=""
Text
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combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020年06月15日
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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2695 entries on 27 pages. Showing entries 1 - 100.
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00001234
Pat1
PubMed: Schaaf 2013', this);">PubMed: Schaaf 2013
-
M
no
United States
white
-
-
-
-
ID
acc. Patak-31397880 neonatal hypotonia with poor suck, excessive weight gain, developmental delay, intellectual disability, hypogonadism, infantile lethargy, autism spectrum disorder
MAGEL2
MAGEL2
1
1
User ID 00084
Name Christian Schaaf
Email address schaaf@bcm.edu
Institute Baylor College of Medicine
Department Molecular and Human Genetics
Country US
', this, [-200, 0]);">Christian Schaaf 00001608
Pat2
PubMed: Schaaf 2013', this);">PubMed: Schaaf 2013
-
M
-
United States
Hispanic
-
-
-
-
autism, ID
neonatal hypotonia with poor suck, feeding problems, excessive weight gain, hyperphagia, developmental delay, intellectual disability, facial dysmorphia, hypogonadism, eye abnormalities, speech articulation defects, sleep apnea, autism spectrum disorde
MAGEL2
MAGEL2
1
1
User ID | 00084Name | Christian SchaafEmail address | schaaf@bcm.eduInstitute | Baylor College of MedicineDepartment | Molecular and Human GeneticsCountry | US', this, [-200, 0]);">Christian Schaaf 00001609
Pat3
PubMed: Schaaf 2013', this);">PubMed: Schaaf 2013
-
M
-
United States
white
-
-
-
-
ID
feeding problems, excessive weight gain, developmental delay, intellectual disability, hypogonadism, infantile lethargy, short stature, eye abnormalities, behavioral issues, speech articulation deficits, skin picking, autism spectrum disorder, contractures of the distal interphalangeal joints
MAGEL2
MAGEL2
1
1
User ID | 00084Name | Christian SchaafEmail address | schaaf@bcm.eduInstitute | Baylor College of MedicineDepartment | Molecular and Human GeneticsCountry | US', this, [-200, 0]);">Christian Schaaf 00001610
Pat4
PubMed: Schaaf 2013', this);">PubMed: Schaaf 2013
-
M
-
United States
Hispanic
-
-
-
-
ID
neonatal hypotonia with poor suck, feeding problems, hyperphagia, developmental delay, intellectual disability, infantile lethargy, short stature, small hands, narrow hands, behavioral issues, speech articulation deficits, skin picking, sleep apnea, autism spectrum disorder, contractures of the distal interphalangeal joints
MAGEL2
MAGEL2
1
1
User ID | 00084Name | Christian SchaafEmail address | schaaf@bcm.eduInstitute | Baylor College of MedicineDepartment | Molecular and Human GeneticsCountry | US', this, [-200, 0]);">Christian Schaaf 00001639
FamPatIII2/5/9
PubMed: Langouet 2013', this);">PubMed: Langouet 2013,
Journal: Langouet 2013', this);">Journal: Langouet 2013
3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives
F;M
yes
Algeria
-
-
-
-
-
ID
see paper; ..., born normal growth parameters, an unremarkable pregnancy/delivery, uncomplicated neonatal period; 30–36y, occipitofrontal circumference −3 to −4SD, severe cognitive impairment, severe speech delay, behavioral disturbances, no seizures, short stature, vertebral anomalies, sloping forehead, deep set eyes, anteverted large ears; normal circulating T, B, NK cell counts, mild naive T (CD4, CD8) lymphocytopenia; neurological examination normal, molecular karyotyping normal, normal metabolic workup; severe intellectual disability (HP:0010864); severe speech delay (HP:0000750)
TTI2
TTI2
1
3
User ID | 00104Name | Laurence ColleauxEmail address | laurence.colleaux@inserm.frInstitute | INSERM U781Department | Institut IMAGINECountry | FR', this, [-200, 0]);">Laurence Colleaux 00002413
-
-
early-onset epileptic encephalopathy
F
no
Japan
-
-
-
-
-
ID
early-onset epileptic encephalopathy
-
SLC35A2
1
1
User ID | 00111Name | Hirotomo SaitsuEmail address | hsaitsu@hama-med.ac.jpInstitute | Yokohama City University Graduate School of MedicineDepartment | Human GeneticsCountry | JP', this, [-200, 0]);">Hirotomo Saitsu 00002414
-
-
-
F
no
Japan
-
-
-
-
-
ID
early-onset epileptic encephalopathy
-
SLC35A2
1
1
User ID | 00111Name | Hirotomo SaitsuEmail address | hsaitsu@hama-med.ac.jpInstitute | Yokohama City University Graduate School of MedicineDepartment | Human GeneticsCountry | JP', this, [-200, 0]);">Hirotomo Saitsu 00002415
-
-
early-onset epileptic encephalopathy
F
no
Japan
-
-
-
-
-
ID
early-onset West syndrome
SLC35A2
SLC35A2
1
1
User ID | 00111Name | Hirotomo SaitsuEmail address | hsaitsu@hama-med.ac.jpInstitute | Yokohama City University Graduate School of MedicineDepartment | Human GeneticsCountry | JP', this, [-200, 0]);">Hirotomo Saitsu 00003059
-
Larti et al., submitted
-
M
yes
Iran
-
-
-
-
-
ID
complete azospermia, strabismus
-
CLIP1
1
5
User ID | 00147Name | Farzaneh LartiEmail address | fa.larti@uswr.ac.irInstitute | University of Social Welfare and Rehabilitation SciencesDepartment | Genetics Research Centre (GRC)Country | IR', this, [-200, 0]);">Farzaneh Larti 00004117
-
-
-
M
no
Italy
white
-
-
-
-
ID
agenesis of corpus callosum, aplasia/hypoplasia of the cerebellum, microcephaly, ichthyosis
PAK3
PAK3
1
1
User ID | 00563Name | Pamela MaginiEmail address | pamela.magini@unibo.itInstitute | Università di BolognaDepartment | Dipartimento di Scienze Mediche e ChirurgicheCountry | IT', this, [-200, 0]);">Pamela Magini 00011649
-
PubMed: Abou Jamra 2011', this);">PubMed: Abou Jamra 2011
4-generation family, 3 affecteds, unaffected carreir parents
F
yes
Israel
Iaraeli;Arab
-
-
-
-
ID
sever ID; normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, no drooling, wheelchair bound, no foot deformity, head circumference -2.5SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, overweight; 2.5y walk independently
AP4B1
AP4B1
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011650
-
PubMed: Abou Jamra 2011', this);">PubMed: Abou Jamra 2011
4-generation family, 3 affecteds, unaffected carrier parents
F
yes
Israel
Iaraeli;Arab
-
-
-
-
ID
severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, no Babinski sign, spasticity, no drooling, ambulant, no foot deformity, head circumference -2.5SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, overweight; 2.5y walk independently
AP4B1
AP4B1
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011651
-
PubMed: Abou Jamra 2011', this);">PubMed: Abou Jamra 2011
4-generation family, 3 affecteds, unaffected carrier parents
M
yes
Israel
Iaraeli;Arab
-
-
-
-
ID
severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, wheelchair bound, no foot deformity, head circumference -3SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, normal weight; 2.5y walk independently
AP4B1
AP4B1
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011652
-
PubMed: Abou Jamra 2011', this);">PubMed: Abou Jamra 2011
6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents
M
yes
Syria
-
-
-
-
-
ID
severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -1SD, height 145cm, no epilepsy, sphincter control, normal eye, normal hearing, no overweight; 2y walk independently
AP4S1, SLC22A17
AP4S1, SLC22A17
2
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011653
-
PubMed: Abou Jamra 2011', this);">PubMed: Abou Jamra 2011
6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents
F
yes
Syria
-
-
-
-
-
ID
severe ID; no normal speech, stereotypic laughter, shy character, progressing to hypertonia, no spasticity, drooling, not ambulant, foot deformity, head circumference -4SD, height 130cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight; 2y walk independently
AP4S1, SLC22A17
AP4S1, SLC22A17
2
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011654
-
PubMed: Abou Jamra 2011', this);">PubMed: Abou Jamra 2011
6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents
M
yes
Syria
-
-
-
-
-
ID
severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -2SD, height 140cm, no epilipsy, sphincter control, amblyopia, normal hearing, no overweight; 2.5y walk independently
AP4S1, SLC22A17
AP4S1, SLC22A17
2
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011655
-
PubMed: Abou Jamra 2011', this);">PubMed: Abou Jamra 2011
3-generation family, 2 affecteds, unaffacted carrier parents
M
yes
Syria
-
-
-
-
-
ID
severe ID; no normal speech, no stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -3SD, height 125cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight
AP4E1
AP4E1
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011656
-
-
3-generation family, 2 affecteds, unaffected carrier parents
F
yes
Syria
-
-
-
-
-
ID
severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -4SD, height 105cm, epilepsy, no sphincter control, normal eye, normal hearing, no overweight
AP4E1
AP4E1
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011657
-
PubMed: Abou Jamra 2011', this);">PubMed: Abou Jamra 2011
family
?
yes
Syria
-
-
-
-
-
ID
-
AP4E1
AP4E1
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011659
-
PubMed: Moreno-De-Luca 2011', this);">PubMed: Moreno-De-Luca 2011
4-generation family, 2 affecteds, unaffected carrier parents
F
yes
Jordan
Palestine
-
-
-
-
ID
severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing
-
AP4E1, DCAF13P3, SPPL2A
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00011660
-
PubMed: Moreno-De-Luca 2011', this);">PubMed: Moreno-De-Luca 2011
4-generation family, 2 affecteds, unaffected carrier parents
M
yes
Jordan
Palestine
-
-
-
-
ID
severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing
-
AP4E1, DCAF13P3, SPPL2A
3
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00016126
-
PubMed: Soler-Alfonso 2014', this);">PubMed: Soler-Alfonso 2014
3-generation family, affected twin III.2
M
no
United States
white
>10y
-
-
-
ID
autism spectrum disorder, anxiety disorder, dysthymia, borderline intellectual functioning (IQ 75)
CHRNA7
CHRNA7
1
1
User ID | 00084Name | Christian SchaafEmail address | schaaf@bcm.eduInstitute | Baylor College of MedicineDepartment | Molecular and Human GeneticsCountry | US', this, [-200, 0]);">Christian Schaaf 00016306
-
-
family, 2 affected brothers
M
yes
Palestine
Palestinian
-
-
-
-
ID
cranio-lenticulo-sutural dysplasia (CLSD) and congenital disorders of glycosylation (CDG)-II
MAN1B1, MUM1L1, NUP214, SASH3, SEC23A
MAN1B1, MUM1L1, NUP214, SASH3, SEC23A
5
2
User ID | 00677Name | Swati GuptaEmail address | 29swatigupta@gmail.comInstitute | McGill UniversityDepartment | Human GeneticsCountry | CA', this, [-200, 0]);">Swati Gupta 00016308
patient 1
PubMed: Kuechler 2015', this);">PubMed: Kuechler 2015,
Journal: Kuechler 2015', this);">Journal: Kuechler 2015
-
F
no
Germany
-
-
-
-
-
ID
see paper; ...
-
SETD5
2
1
User ID | 00675Name | Alexander ZinkEmail address | alexander.zink@uni-bonn.deInstitute | Institue of Human GeneticsDepartment | University of BonnCountry | DE', this, [-200, 0]);">Alexander Zink 00016309
patient 2
PubMed: Kuechler 2015', this);">PubMed: Kuechler 2015,
Journal: Kuechler 2015', this);">Journal: Kuechler 2015
-
F
-
Germany
-
-
-
-
-
ID
see paper; ...
-
LCE4A, RBM24, SETD5
3
1
User ID | 00675Name | Alexander ZinkEmail address | alexander.zink@uni-bonn.deInstitute | Institue of Human GeneticsDepartment | University of BonnCountry | DE', this, [-200, 0]);">Alexander Zink 00016365
-
-
patient 1 (Gea Beunders, et al., 2014)
M
no
Netherlands
white
>24y
-
-
-
ID
low birth weight <p3
microcephaly <p2
feeding difficulties
Neurodevelopmental disorders
intellectual disability/ development delay
autism/autistic behavior
sound sensitivity
hyperactivity/ ADHD
ptosis
prominent nasal tip
short filtrum
micrognatia
ABI2, AUTS2
ABI2, AUTS2
2
1
User ID | 00682Name | Gea BeundersEmail address | g.beunders@vumc.nlInstitute | VUmcDepartment | clinical geneticsCountry | NL', this, [-200, 0]);">Gea Beunders 00016366
-
-
proband 2 in Beunders et al. 2014
M
no
Belgium
white
>20y
-
20y
-
ID
-
AUTS2
AUTS2
1
1
User ID | 00682Name | Gea BeundersEmail address | g.beunders@vumc.nlInstitute | VUmcDepartment | clinical geneticsCountry | NL', this, [-200, 0]);">Gea Beunders 00016656
MRtrio5/Pat1
PubMed: Vissers 2010', this);">PubMed: Vissers 2010,
PubMed: Vulto van Silfhout 2014', this);">PubMed: Vulto van Silfhout 2014
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
?
(Netherlands)
-
-
-
-
-
ID
mild motor delay, no speech, severe ID, poor eyecontact, behavioral problems, autism, mood swings, fascinations, high pain threshold, abnormal walking pattern, thin and fair hair, straight eyebrows, full nasal tip, full lower lip, prominent chin, upslant, epicantic folds, fetal finger pads, Skin syndactyly in toes 2 and 3, Hyperlaxity, Recurrent infections in childhood, scrotal raphe, flat feet
DEAF1
DEAF1
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00016662
-
PubMed: Vulto van Silfhout 2014', this);">PubMed: Vulto van Silfhout 2014
-
F
?
-
Unknown
-
-
-
-
ID
-
DEAF1
DEAF1
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00016841
Fam2
PubMed: Tzschach 2015', this);">PubMed: Tzschach 2015
2-generation family, 2 affected, unaffected heterozygous carrier mother
M
-
-
-
-
-
-
-
ID
severely delayed psychomotor development, 25m-walking, no speech, microcephaly borderline short stature; 30y maternal uncle said microcephalic in childhood, OFC and height now 50th centile
ATRX
ATRX
1
2
User ID | 00714Name | Andreas TzschachEmail address | andreas.tzschach@med.uni-tuebingen.deInstitute | Institute of Medical Genetics and Applied GenomicsDepartment | Country | DE', this, [-200, 0]);">Andreas Tzschach 00016842
Fam3
PubMed: Tzschach 2015', this);">PubMed: Tzschach 2015
2-generation family, 2 affected brothers, unaffected heterozygous carrier mother
M
no
-
-
-
-
-
-
ID
7y/3y; severe intellectual disability, microcephaly, short nasal septum
ATRX
ATRX
1
2
User ID | 00714Name | Andreas TzschachEmail address | andreas.tzschach@med.uni-tuebingen.deInstitute | Institute of Medical Genetics and Applied GenomicsDepartment | Country | DE', this, [-200, 0]);">Andreas Tzschach 00016889
-
PubMed: Homan 2014', this);">PubMed: Homan 2014
2-generation family, 1 affected, unaffected non-carrier parents
M
?
France
(France)
-
-
-
-
ID
21m: developmental delay, aggressive behavior and hypotonia. Other features included relative macrocephaly, facial dysmorphism, broad thumbs and great toes, short stature, constipation and hyperextensibility of joints and skin.
USP9X
USP9X
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00016890
-
PubMed: Homan 2014', this);">PubMed: Homan 2014
2-generation family, 1 affected, unaffected heterozygous carrier mother/grandmother
M
?
United States
-
-
-
-
-
ID
Prenatally: a raised maternal serum alpha-fetoprotein, intrauterine growth restriction, and an ectopic left kidney. Postnatally: feeding difficulties, hypotonia, tracheomalacia, gastro-esophageal reflux disease and developmental delay with speech development most affected. Broad thumbs, curving toe nails and short stature. 9y: ID (nonverbal, speech having regressed at 3y), obsessive and autistic behaviors, elevated testosterone and decreased, cholesterol levels, short stature
USP9X
ARID1B, USP9X
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00016891
-
PubMed: Homan 2014', this);">PubMed: Homan 2014
2-generation family, 2 affected halfbrothers/uncle, unaffected heterozygous carrier mother/grandmother
M
?
United Kingdom (Great Britain)
(British)
-
-
-
-
ID
3/3 mild/moderate ID, 1/3 obessiveness, 1/3 autism, 3/3 hypotonia,
USP9X
USP9X
1
3
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00016925
Fam4
PubMed: Tzschach 2015', this);">PubMed: Tzschach 2015
2-generation family, 2 affected brothers, unaffected heterozygous carrier mother
M
-
-
-
-
-
-
-
ID
severe intellectual disability, secondary microcephaly, muscular hypotonia, epilepsy, strabismus, short nasal septum, agenesis gallbladder, 3y5m-deceased of respiratory infection; younger brother primary microcephaly, micropenis, cryptorchidism, severely delayed psychomotor development, gallbladder agenesis
ATRX
ATRX
1
2
User ID | 00714Name | Andreas TzschachEmail address | andreas.tzschach@med.uni-tuebingen.deInstitute | Institute of Medical Genetics and Applied GenomicsDepartment | Country | DE', this, [-200, 0]);">Andreas Tzschach 00016948
-
PubMed: Popp 2015', this);">PubMed: Popp 2015,
Journal: Popp 2015', this);">Journal: Popp 2015
-
F
no
Germany
Europe
>02y11m
-
-
-
ID
postnatal growth failure; severe developmental delay; long curved eyelashes, thin arched eyebrows, broad nasal bridge, thin arched upper lip;delayed closure of the fontanels, delayed bone age, broad great toes, mild pectus carinatum; pulmonary artery stenosis, atrial septal defect, prolonged QT interval; truncal hypotonia, hypertonia of extremities; MRI brain borderline normal ventricle; self-hugging, repetitive hand movements; no genital abnormalities
NAA10
NAA10
1
1
User ID | 00729Name | Bernt PoppEmail address | Bernt.Popp@medizin.uni-leipzig.de
Bernt.Popp@gmail.comInstitute | Institute of Human GeneticsDepartment | Friedrich-Alexander-Universität Erlangen-NürnbergCountry | DE', this, [-200, 0]);">Bernt Popp 00016949
-
PubMed: Popp 2015', this);">PubMed: Popp 2015,
Journal: Popp 2015', this);">Journal: Popp 2015
-
M
no
Switzerland
-
>05y11m
-
-
-
ID
postnatal growth failure; severe developmental delay; prominent forehead, deep set eyes, long eyelashes, down slanting palpebral fissures, large ears, diasthema; small hands/feet, high arched palate, wide interdental spaces; no cardiac abnormalities; hypoplastic scrotum; truncal hypotonia, hypertonia of extremities, generalized epileptiform activity; MRI brain enlarged ventricles, reduced periventricular volume, gliotic changes; hyperactivity, auto-aggressive behaviour, hand biting, autistic features
NAA10
NAA10
1
1
User ID | 00729Name | Bernt PoppEmail address | Bernt.Popp@medizin.uni-leipzig.de
Bernt.Popp@gmail.comInstitute | Institute of Human GeneticsDepartment | Friedrich-Alexander-Universität Erlangen-NürnbergCountry | DE', this, [-200, 0]);">Bernt Popp 00017033
-
PubMed: Failler 2014', this);">PubMed: Failler 2014
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
no
France
European
-
-
-
-
ID, NPHP1
severe renal involvement progressing to ESRD <5y; mild intellectual disability, strabismus, hepatic cytolysis, cholestasis
CEP83
CEP83
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00017034
-
PubMed: Failler 2014', this);">PubMed: Failler 2014
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
no
France
European
-
-
-
-
ID, NPHP1
severe renal involvement progressing to ESRD <5y; speech delay, hydrocephalus; age ESDR 4,5y
CEP83
CEP83
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00017035
-
PubMed: Failler 2014', this);">PubMed: Failler 2014
2-generation family, 1 affected, unaffected parents
F
no
-
European
-
-
-
-
ID, NPHP1
-
CEP83
CEP83
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00017036
-
PubMed: Failler 2014', this);">PubMed: Failler 2014
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
no
France
European
-
-
-
-
ID, NPHP1
neurological alterations, including speech delay, intellectual disability, and/or hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus and retinal degeneration, intellectual disability, retinitis, age ESRD 4y
CEP83
CEP83
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00017037
-
PubMed: Failler 2014', this);">PubMed: Failler 2014
2-generation family, 2 affected brothers, unaffected heterozygous carrier parents, brothers II1/II2
M
no
France;Poland
European
-
-
-
-
ID, NPHP1
severe renal involvement progressing to ESRD <5y (II1); high blood pressure
CEP83
CEP83
2
2
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00017038
-
PubMed: Failler 2014', this);">PubMed: Failler 2014
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
yes
(Turkey)
Turkish
-
-
-
-
ID, NPHP1
prominent microcystic tubular dilatations associated with tubular atrophy and interstitial fibrosis, atrophic tubules with thickening of the basement membranes, massive interstitial fibrosis, high blood pressure, hepatic fibrosis
CEP83
CEP83
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00017039
-
PubMed: Failler 2014', this);">PubMed: Failler 2014
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
no
-
latino
-
-
-
-
HYDRO, ID, NPHP1
prominent microcystic tubular dilatations associated with tubular atrophy, interstitial fibrosis, neurological alterations, including speech delay, intellectual disability,
hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus, severe phenotype with ESRD at 1y, hydrocephalus, facial dysmorphism, heart anomaly complicated by triple X syndrome (47, XXX)
CEP83
CEP83
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00017830
-
PubMed: Endele 2010', this);">PubMed: Endele 2010
-
M
no
Germany
-
-
-
-
-
ID
see paper; moderate mental retaration, no seizures, EEG irregular slow dysrhythmia, behavioral anomalies, no MRI scan anomalies, no eye anomalies, no other anomalies
GRIN2B
GRIN2B
2
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00017831
Pat9
PubMed: Endele 2010', this);">PubMed: Endele 2010
-
F
no
Germany
-
-
-
-
-
ID
see paper; moderate intellectual disability, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies (hyperactivity, short attention span, sleep disturbance, stereotypies, friendliness), MRI scan not performed, no facial dysmorphism, no eye anomalies, no other anomalies; 24m-walk; 28m-first words
GRIN2B
GRIN2B
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00017832
Pat5
PubMed: Endele 2010', this);">PubMed: Endele 2010
-
M
no
Germany
-
-
-
-
-
ID
see paper; no microcephaly, mild mental retardation, no seizures, no EEG anomalies, behavioral anomalies (short attention span, aggressiveness, stereotypies, friendliness), no MRI scan anomalies, no facial dysmorphism, no eye anomalies, no other abnormalities; 20m-walk; 18m-first words
GRIN2B
GRIN2B
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00017833
-
PubMed: Endele 2010', this);">PubMed: Endele 2010
-
F
no
-
European
-
-
-
-
ID
see paper; mild mental retardation, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies, no MRI scan performed, no facial dysmorphism, no eye anomalies, hypothyroidism
GRIN2B
GRIN2B
2
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00017834
-
PubMed: Endele 2010', this);">PubMed: Endele 2010
3-generation family, 3 affecteds (son, mother, grandmother)
M
no
Germany
-
-
-
-
-
ID
see paper; learning difficulties, mild/moderate mental retardation, EEG anomalies, childhood seizures, etc.
GRIN2A
GRIN2A
2
3
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00017835
-
PubMed: Endele 2010', this);">PubMed: Endele 2010
-
F
no
France
-
-
-
-
-
ID
see paper; severe mental retardation, 3m-first seizure; epileptic spasms, myoclonies/frequent massive myoclonies until present; EEG anomalies slowing, bilateral independent posterior spikes, behavioral anomalies; muscle hypotonia; no MRI anomalies; no facial dysmorphism
GRIN2A
GRIN2A
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00017841
-
PubMed: Ramos-Brossier 2015', this);">PubMed: Ramos-Brossier 2015,
Journal: Ramos-Brossier 2015', this);">Journal: Ramos-Brossier 2015
3-generation family, 3 affecteds (1F, 2M), unaffected carrier (grand)mother
M
no
-
-
-
-
-
-
ID
see paper; PatII2 (30y) moderate ID, autistic-like behavior extraverted, aggressive, language/motor delay, large hands, big ears, long face, synophrys; PatII3 (43y) mild ID, no major behavioral problems, autistic-like behavior, language/motor delay, facial dysmorphism, big ears, round
face, neurological examination normal; PatIII2 (female, 10y) ID needing special care
IL1RAPL1
IL1RAPL1
1
3
User ID | 00740Name | Pierre BilluartEmail address | pierre.billuart@inserm.frInstitute | Institut CochinDepartment | Development, Reproduction and CancerCountry | FR', this, [-200, 0]);">Pierre Billuart 00017846
-
PubMed: Ramos-Brossier 2015', this);">PubMed: Ramos-Brossier 2015,
Journal: Ramos-Brossier 2015', this);">Journal: Ramos-Brossier 2015
2-generation family, affected male, carrier mother/sister
M
no
-
-
-
-
-
-
ID
see paper; 9m-some delay motor development, 9m-sitting, 25m-walking; 27m speaks only three words, formal developmental testing confirmed delay, height 84 cm (below 3rd percentile), weight 12.7 kg (25th percentile), head circumference 48.4 cm (25th percentile), mild facial dysmorphism, prominent forehead, generalized joint hyperlaxity, normal male genitalia, skin significant eczema, brain MRI normal; mother learning difficulties, she attended special education; sister with learning difficulties
IL1RAPL1
IL1RAPL1, ZNF528
2
1
User ID | 00740Name | Pierre BilluartEmail address | pierre.billuart@inserm.frInstitute | Institut CochinDepartment | Development, Reproduction and CancerCountry | FR', this, [-200, 0]);">Pierre Billuart 00017851
-
PubMed: Tarpey 2009', this);">PubMed: Tarpey 2009;
PubMed: Ramos-Brossier 2015', this);">PubMed: Ramos-Brossier 2015,
Journal: Ramos-Brossier 2015', this);">Journal: Ramos-Brossier 2015
2-generation family, 2 affected males, carrier mother
M
no
(France)
-
-
-
-
-
ID
see paper; PatII1 (deceased) moderate ID (IQ 36–51), gynecomastia, obesity, small testes, normal height (169 cm)/head circumference (54.5 cm), sexual deviant behavior (treated with anti-androgen medication and necessitating living in care); PatII2 (57y) mild ID, obesity, significant behavioral issues, normal head circumference,
normal facial features, gynecomastia, normal hands and feet; mother I-2 phenotypically normal, normal height (153 cm)/head circumference (54.2 cm), low average intelligence
IL1RAPL1
IL1RAPL1
1
2
User ID | 00740Name | Pierre BilluartEmail address | pierre.billuart@inserm.frInstitute | Institut CochinDepartment | Development, Reproduction and CancerCountry | FR', this, [-200, 0]);">Pierre Billuart 00019836
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
C15orf40, RB1, SSPO, USP42
C15orf40, RB1, SSPO, USP42
4
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019837
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
CNGA3, CXXC11
CNGA3, CXXC11
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019838
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
CDC5L, POP1, WWP2
CDC5L, CLRN3, POP1
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019839
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
developmental delay, no major dysmorphisms, no ocular anomalies, no pituitary deficiency
CLRN3, OSBPL9, OTX2, TBR1, YTHDC1
CLRN3, OSBPL9, OTX2, TBR1, YTHDC1
5
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019840
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
CNOT1
CNOT1
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019841
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
F
?
-
-
-
-
-
-
ID
ID from infancy, regression at adult age; shows parkinsonism and dystonia
CARD8, ELP2, WDR45
CARD8, ELP2, WDR45
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019858
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
LIPI, MFAP3
LIPI, MFAP3
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019859
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
F
?
-
-
-
-
-
-
ID
Severe ID with epilepsy. No speech. Short stature, microcephaly and enlarged ventricles and hypertrophy of the cerebellar vermis. Hypotonia, cleft palate, cataract, scoliosis and stereotypic movements. Dysmorphic features included a low frontal-temporal hairline, deep-set eyes, a flat midface, long narrow ears, a long nose with a high bridge, a short philtrum, an everted lower lip and a prominent jaw. In addition, she had scoliosis, short narrow hands, tapered fingers and several contractures.
FHDC1, FHOD1, SMC1A, ZNF566
FHDC1, FHOD1, SMC1A, ZNF566
4
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019860
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
GPR52
GPR52
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019861
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
neonatal feeding problems, hip dysplasia, ID (IQ 50), autism, epicanthic folds, straight eyebrows, posteriorly rotated ears and downturned corners of the mouth; MRI of brain not available; no epilepsy
DSP, PTPN21, SPTAN1
DSP, PTPN21, SPTAN1
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019862
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
PI4K2B
ASUN, PI4K2B
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019863
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
TBKBP1
TBKBP1
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019864
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014,
PubMed: Kim 2016', this);">PubMed: Kim 2016,
Journal: Kim 2016', this);">Journal: Kim 2016
2-generation family, 1 affected, unaffected non-carrier parents
F
?
Netherlands
-
-
-
-
-
ID
see paper; ..., severe intellectual disability (HP:0010864)
SON
SON
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019865
-
PubMed: Cafiero 2015', this);">PubMed: Cafiero 2015,
Journal: Cafiero 2015', this);">Journal: Cafiero 2015
-
F
no
Italy
white
>08y
-
-
-
ID
brachycephaly, no high forehead, no bitemporal narrowing, horizontal eyebrows, weak upslanting of palpebral fissures, weak synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, no cupid-bow upper lip, thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; severe speech impairment; hypotonia; ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; cleft palate; club foot; ALL; hearing loss
MED13L
MED13L
1
1
User ID | 00778Name | Giuseppe MarangiEmail address | giuseppemarangi@alice.itInstitute | Università Cattolica del Sacro CuoreDepartment | Institute of Medical GeneticsCountry | IT', this, [-200, 0]);">Giuseppe Marangi 00019867
-
PubMed: Cafiero 2015', this);">PubMed: Cafiero 2015,
Journal: Cafiero 2015', this);">Journal: Cafiero 2015
-
F
no
Italy
white
>03y
-
-
-
CHD, ID
brachycephaly, high forehead, bitemporal narrowing, horizontal eyebrows, upslanting of palpebral fissures, synophrys, epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; developmental delay; motor delay; no motor delay; no severe speech impairment; no hypotonia; no ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly, Open foramen ovale
MED13L
MED13L
1
1
User ID | 00778Name | Giuseppe MarangiEmail address | giuseppemarangi@alice.itInstitute | Università Cattolica del Sacro CuoreDepartment | Institute of Medical GeneticsCountry | IT', this, [-200, 0]);">Giuseppe Marangi 00019868
-
PubMed: Cafiero 2015', this);">PubMed: Cafiero 2015,
Journal: Cafiero 2015', this);">Journal: Cafiero 2015
-
F
no
United States
African american, mexican, philippino
>12y
-
-
-
ID
no brachycephaly, high forehead, no bitemporal narrowing, no horizontal eyebrows, upslanting of palpebral fissures, synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; no motor delay; no hypotonia; mild ataxia/motor incoordination; choreiform movements; seizures; brain anomalies; no brain anomalies; macrocephaly; central obesity; cubitus valgus
MED13L
MED13L
1
1
User ID | 00778Name | Giuseppe MarangiEmail address | giuseppemarangi@alice.itInstitute | Università Cattolica del Sacro CuoreDepartment | Institute of Medical GeneticsCountry | IT', this, [-200, 0]);">Giuseppe Marangi 00019869
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
neonatal feeding problems and hypotonia, severe ID, macrocephaly, large cysterna magna, hydrocephalus, myelination delay and wide sulci. Seizures, self-mutilation and sleep disturbances. Facial dysmorphisms included hypertelorism, broad coarse face, low-set ears, macrostomia and mild retromicrognathia. She had small hands and feet, contractures and scoliosis.
ALG13, CBLB, KRT32, RAI1
ALG13, CBLB, KRT32, RAI1
4
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019870
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
feeding problems, epilepsy, IQ 50, small dysplastic low-set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand
HADHA, MED13L
HADHA, MED13L
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019886
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
POLQ, ZNF831
POLQ, ZNF831
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019887
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
BRD3, SEZ6, TNIP3
BRD3, SEZ6, TNIP3
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019888
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
moderate-severe ID, primary macrocephaly, hearing loss due to otitis media. Strabismus. Autism, ADHD. Frontal bossing, deep-set eyes. Four teeth at 11 months of age.
SATB2
SATB2
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019889
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
ID (dyshormonic profile; performal IQ 50, verbal 90), hypotonia, no facial dysmorphisms, progressive scoliosis, hip dysplasia, fatigue problems.
ELMO2, PPP2R5D
ELMO2, PPP2R5D
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019890
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
Severe ID. Epilepsy (tonic-clonic seizures), myokymia. Normal height, head circumference -2 SD. Broad based walking pattern. Narrow long face, prominent supraorbital ridges, long nose and philtrum, thin upper lip, hypodontia, long fingers and toes and narrow thorax.
CATSPERB, KCNA1, SPACA7
CATSPERB, KCNA1, SPACA7
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019891
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
ID, no major dysmorphisms, no epilepsy, sleep disturbances, obsessive behaviour
DOK4, SCN2A
DOK4
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019892
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
USP8
USP8
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019893
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
MAST1, NEK1
MAST1, NEK1
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019894
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
PNLIPRP1
PNLIPRP1
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019895
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
CDC34, FAM46B
CDC34, FAM46B
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019896
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
APPL2, SMAD6, ZNF423
APPL2, SMAD6, ZNF423
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019897
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
ATP7B, CEP170B
ATP7B, CEP170B
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019898
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
PIAS1
PIAS1
5
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019899
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
GIPC2
GIPC2
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019900
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
EFS
EFS
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019901
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
Moderate ID, features of autism, anxiety, mood instability and aggressive outbursts. No evident dysmorphic features.
PCCB, STAG1, ZFYVE16
PCCB, STAG1, ZFYVE16
5
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019906
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
CLSTN3, NACC1
CLSTN3, NACC1
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019907
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
HIVEP2
HIVEP2
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019908
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014,
PubMed: Stessman 2016', this);">PubMed: Stessman 2016,
Journal: Stessman 2016', this);">Journal: Stessman 2016
-
M
?
Netherlands
-
-
-
-
-
ID
microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750)
CFAP61, EYA4, POGZ
EYA4, POGZ
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019909
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
RBL2
RBL2
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019910
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
severe hypotonia, severe motor delay and speech delay, deficient gyration frontal region, mild periventricular white matter abnormalities
CREBL2, TBR1
CREBL2, TBR1
2
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019911
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
ABCC8
ABCC8
1
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019912
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
severe ID, severe epilepsy, Rett-like phenotype, motor handicap, severe feeding difficulties, progressive scoliosis
EPHB1, SMC1A, UCP1
EPHB1, SMC1A, UCP1
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019913
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
?
?
-
-
-
-
-
-
ID
-
BMP8B, KANSL2
BMP8B, ERV3-1, KANSL2
3
1
User ID | 00705Name | Marianne Vos (LOVD-team)Email address | ddunnen@humgen.nlInstitute | LUMCDepartment | Country | NL', this, [-200, 0]);">Marianne Vos (LOVD-team) 00019920
-
PubMed: Cafiero 2015', this);">PubMed: Cafiero 2015,
Journal: Cafiero 2015', this);">Journal: Cafiero 2015
-
F
no
Italy
white
>04y
-
-
-
ID
Developmental delay, absent speech, EEG anomalies, hypotonia, esotropia, hypertrichosis
SYT1
SYT1
1
1
User ID | 00778Name | Giuseppe MarangiEmail address | giuseppemarangi@alice.itInstitute | Università Cattolica del Sacro CuoreDepartment | Institute of Medical GeneticsCountry | IT', this, [-200, 0]);">Giuseppe Marangi 00022445
-
-
-
-
-
Iran
-
-
-
-
-
ID
intellectual disability, minor dysmorphisms
TRMT1
TRMT1
1
1
User ID | 00799Name | Behzad DavarniaEmail address | b.davarnia@gmail.comInstitute | University of Social Welfare and Rehabilitation SciencesDepartment | Genetics Research Center (GRC)Country | IR', this, [-200, 0]);">Behzad Davarnia 00024123
-
submitted
-
M
yes
Iran;(Iran)
white
-
-
-
-
ID
Ataxia gait, nystagmus, ...
GRM1
GRM1
1
1
User ID | 00799Name | Behzad DavarniaEmail address | b.davarnia@gmail.comInstitute | University of Social Welfare and Rehabilitation SciencesDepartment | Genetics Research Center (GRC)Country | IR', this, [-200, 0]);">Behzad Davarnia 00024233
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
-
-
-
-
-
-
-
-
ID
severe ID, signs of autism, aggressive behavior, 2 café au lait spots, increased pain threshold
ACR, SHANK3
ACR, SHANK3
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen 00024234
-
PubMed: Gilissen 2014', this);">PubMed: Gilissen 2014
-
-
-
-
-
16y
-
-
-
ID, RTT
, severe ID, epilepsy, cerebral atrophy without structural defects, short stature, head circumference -2 SD, hypotonic appearance, mild upslanting palpebral fissures, prominent philtrum; 16y-sudden unexplained death
MECP2
MECP2
1
1
User ID | 00006Name | Johan den DunnenEmail address | GVsharedLOVD@JohanDenDunnen.nlInstitute | privateDepartment | Country | NL', this, [-200, 0]);">Johan den Dunnen
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