OMIM - Online Mendelian Inheritance in Man

1: #222300 GeneTests,

WOLFRAM SYNDROME
WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, INCLUDED
Gene map locus 4p16.1

2: #530000 GeneTests,

KEARNS-SAYRE SYNDROME; KSS

3: +176300 GeneTests,

TRANSTHYRETIN; TTR
AMYLOIDOSIS I, INCLUDED
Gene map locus 18q11.2-q12.1

4: *590050 GeneTests,

TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1

5: #203800 GeneTests,

ALSTROM SYNDROME; ALMS
Gene map locus 2p13

6: *603550

EYES ABSENT 4; EYA4
Gene map locus 6q23

7: *590040

TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH

8: #229300 GeneTests,

FRIEDREICH ATAXIA 1; FRDA
FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
Gene map locus 9q13, 9p23-p11

9: *590045 GeneTests,

TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI

10: #607459 GeneTests,

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO
SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED
Gene map locus 15q25, 10q24

11: +102610 GeneTests,

ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1
MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED
Gene map locus 1q42.1

12: *131244 GeneTests,

ENDOTHELIN RECEPTOR, TYPE B; EDNRB
Gene map locus 13q22

13: #602668 GeneTests,

DYSTROPHIA MYOTONICA 2; DM2
Gene map locus 3q13.3-q24

14: *174763 GeneTests,

POLYMERASE, DNA, GAMMA; POLG
Gene map locus 15q25