Term Name: | X-linked intellectual disability-short stature-overweight syndrome |
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Synonyms: | MRX12, MRX35, X-linked mental retardation 12, X-linked mental retardation 35 |
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. |
Ontology: | Human Disease [DOID:0112056] ( DOID:0112056 ) |