Details of Disease

General Information of Disease (ID: DISC7ATK)

• Disease Name: Intellectual disability, X-linked, with or without seizures, arx-related
• Synonyms: mental retardation, X-linked 54; mental retardation, X-linked 29; MRXARX; intellectual disability, X-linked 52; mental retardation, X-linked, with or without seizures, arx-RELATED; mental retardation, X-linked 76; mental retardation, X-linked 43; intellectual disability, X-linked, with or without seizures, arx-RELATED; mental retardation, X-linked 33; mental retardation, X-linked 32; intellectual disability, X-linked 54; MRX52; ARX-related intellectual disability; intellectual disability, X-linked 32; intellectual disability, X-linked 76; mental retardation, X-linked 52; intellectual disability, X-linked, with or without seizures, ARX-related; intellectual disability, X-linked 29; mental retardation, X-linked 38; mental retardation, X-linked, with or without seizures, arx-related; mental retardation, X-linked 87; intellectual disability, X-linked 43; intellectual disability, X-linked 38; intellectual disability, X-linked 87; intellectual disability, X-linked 33; intellectual developmental disorder, X-linked 29, X-linked recessive
• Disease Hierarchy:
  DIS71AI3: Non-syndromic X-linked intellectual disability
  DISC7ATK: Intellectual disability, X-linked, with or without seizures, arx-related
• Disease Identifiers:
  MONDO ID: MONDO_0010317
  MESH ID: C563150
  UMLS CUI: C0796244
  OMIM ID: 300419
  MedGen ID: 208681

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
ARX	OTBGYH25	Definitive	X-linked	[1]

References

• [1] A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. Am J Med Genet A. 2009 Aug;149A(8):1655-60. doi: 10.1002/ajmg.a.32842.