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Definition

An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis.

Acronym

COMMAD

Synonyms

COMMAD syndrome

Keywords

Albinism
Deafness
Osteopetrosis
Microphthalmia