Term Name: X-linked intellectual disability-short stature-overweight syndrome
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 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease