Details of Disease

General Information of Disease (ID: DISVOJFH)

• Disease Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
• Synonyms: mental retardation X-linked 60 (formerly); OPHN1- related XLID; MRX60 (formerly); intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance; intellectual disability X-linked 60 (formerly); mental retardation, X-linked 60, formerly; intellectual disability, X-linked 60, formerly; X-linked intellectual Deficit with cerebellar Hypoplasia; mental retardation, X-linked 60; mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance; mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance; OPHN1 deficiency; OPHN1 XLMR, X-linked intellectual disability; intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance; OPHN1 XLMR; intellectual disability, X-linked 60; OPHN1 syndrome; intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive; X-linked intellectual disability-cerebellar hypoplasia syndrome; Oligophrenin-1 syndrome
• Definition: X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISOV08L: Central nervous system malformation
  DISVOJFH: X-linked intellectual disability-cerebellar hypoplasia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010337
  MESH ID: C537456
  UMLS CUI: C1845366
  OMIM ID: 300486
  MedGen ID: 336920
  Orphanet ID: 137831

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
OPHN1	TTU7HRD	moderate	Biomarker	[1]
OPHN1	TTU7HRD	Definitive	X-linked	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OPHN1	OTDURZAV	Definitive	X-linked	[2]

References

• [1] Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.Eur J Med Genet. 2018 Aug;61(8):442-450. doi: 10.1016/j.ejmg.2018.03.002. Epub 2018 Mar 3.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.