X-linked intellectual disability-short stature-overweight syndrome

Term ID

DOID:0112056

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. https://pubmed.ncbi.nlm.nih.gov/26166480/

References

• OMIM:300957
• ORDO:457240

Ontology

Human Disease   ( DOID:0112056 )