syndromic X-linked intellectual disability Chudley-Schwartz type

Summary

DOID:0060819 - syndromic X-linked intellectual disability Chudley-Schwartz type

Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.

Synonyms: MRXSCS, X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance, mental retardation, X-linked, syndromic, Chudley-Schwartz type,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010462 - syndromic X-linked intellectual disability Chudley-Schwartz type

MONDO:0010462 - syndromic X-linked intellectual disability Chudley-Schwartz type

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic X-linked intellectual disability (is_a)