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Summary Literature (0)
DOID:0112056 - X-linked intellectual disability-short stature-overweight syndrome


Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in THOC2 on chromosome Xq25.

Synonyms: MRX12, MRX35, X-linked mental retardation 12, X-linked mental retardation 35

Xenbase Genes : thoc2


OMIM:
OMIM:300957 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12; XLID12

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic X-linked intellectual disability (is_a)