" /> Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness - CISMeF





Preferred Label : Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;

Symbol : COMMAD;

CISMeF acronym : COMMAD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the microphthalmia-associated transcription factor gene (MIFT, 156845.0003);

Prefixed ID : #617306;

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29/07/2025


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