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DO Term : syndromic X-linked intellectual disability Chudley-Schwartz type [DOID:0060819] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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,
mental retardation, X-linked, syndromic, Chudley-Schwartz type,
300861,
OMIM:300861,
X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance

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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