female-restricted syndromic X-linked intellectual disability 99

Summary

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

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

: usp9x

MIM:

MIM:300968 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F

MIM:300968 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F

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), X-linked dominant disease (is_a)