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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 26-01-2017 |
Symbol | COMMAD |
Location | 3p14.1 |
Name | coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
Corresponding gene | MITF |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | eye |
osteo-articular | |
neurology | |
Type | disease |
Remark(s) |
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