X-linked intellectual disability-short stature-overweight syndrome (DOID:0112056)
Alliance: disease page
Synonyms: MRX12; MRX35; X-linked mental retardation 12; X-linked mental retardation 35
Alt IDs: OMIM:300957, ORDO:457240
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 the THOC2 gene on chromosome Xq25.