" /> Hamamy syndrome - CISMeF





Preferred Label : Hamamy syndrome;

Symbol : HMMS;

CISMeF acronym : HMMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Iroquois homeobox protein-5 gene (IRX5, 606195.0001);

Prefixed ID : #611174;

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29/07/2025


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