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DO Term : female-restricted syndromic X-linked intellectual disability 99 [DOID:0112025] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4.

synonyms:
MRXS99F,
female-restricted syndromic X-linked mental retardation 99,
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,
GARD:13638,
OMIM:300968,
300968

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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