" /> Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia - CISMeF





Preferred Label : Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia;

CISMeF acronym : MRXS28;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic 28; MRXS28; Intellectual development disorder, X-linked, syndromic 28;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the immunoglobulin-binding protein-1 gene (IGBP1, 300139.0001);

Prefixed ID : #300472;

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29/07/2025


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