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DOID:0112025 - female-restricted syndromic X-linked intellectual disability 99
Disease Ontology Definition: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, X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability, female-restricted syndromic X-linked mental retardation 99,
Xenbase Genes
:
usp9x
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee