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DO Term : corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome [DOID:0060816] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.

synonyms:
OMIM:300472,
300472,
mental retardation, X-linked, syndromic 28,
ICD10CM:Q87.8,
ORDO:52055,
Graham-Cox syndrome,
MRXS28,
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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