corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Findings

No curated finding names corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked recessive inheritance

Onset and course

Congenital onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• disorder of development or morphogenesis
• X-linked syndromic intellectual disability

Resolves to: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Also called

corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessivecorpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathiaGraham-Cox syndromeintellectual disability, X-linked, syndromic 28mental retardation, X-linked, syndromic 28MRXS28