Disease #05224 (COMMAD (syndrome, COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness)), OMIM:617306)

Official abbreviation COMMAD
Name syndrome, COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness)
OMIM ID 617306
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene MITF
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00100317 - PubMed: George 2016, Journal: George 2016 2-generation family, 4 affecteds, mixed phenotype, PatII3 M no United States - - 0 - - COMMAD see paper; ..., colobomatous microphthalmia, microcornea with pannus, dense bilateral cataracts, translucent irides, profound congenital sensorineural hearing loss, lack visible pigment hair/skin/eyes, microphthalmia on prenatal ultrasound, macrocephaly MITF MITF 2 4 Johan den Dunnen
00100320 - PubMed: George 2016, Journal: George 2016 2-generation family, 6 affecteds, mixed phenotype, patient II4 F no United States - - 0 - - COMMAD see paper; ..., born with severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment hair/skin/eyes; relative macrocephaly, short stature, low weight MITF MITF 2 6 Johan den Dunnen
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