Details of Disease

General Information of Disease (ID: DISJ2W6X)

• Disease Name: X-linked intellectual disability-short stature-overweight syndrome
• Synonyms: mental retardation, X-linked 12; intellectual disability, X-linked 12; mental retardation, X-linked 35; MRX12; intellectual disability, X-linked 35; mental retardation, X-linked type 12; intellectual disability, X-linked type 12; intellectual developmental disorder, X-linked 12, X-linked recessive
• Definition: X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISG1YOH: X-linked syndromic intellectual disability
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISJ2W6X: X-linked intellectual disability-short stature-overweight syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010496
  UMLS CUI: C0796218
  OMIM ID: 300957
  MedGen ID: 901885
  Orphanet ID: 457240

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
THOC2	OTNXE5G2	Strong	X-linked	[1]

References

• [1] A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. J Med Genet. 2013 Aug;50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7.