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Metadata
ID DOID:0112056
Name X-linked intellectual disability-short stature-overweight syndrome
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.
https://pubmed.ncbi.nlm.nih.gov/26166480/
Xrefs

OMIM:300957

ORDO:457240

Subsets

DO_rare_slim

Synonyms

MRX12 [EXACT]

MRX35 [EXACT]

X-linked mental retardation 12 [EXACT]

X-linked mental retardation 35 [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a syndromic X-linked intellectual disability

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