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X-linked intellectual disability-cerebellar hypoplasia syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • MRX60 (formerly)
  • OPHN1 XLMR
  • OPHN1 XLMR, X-linked intellectual disability
  • OPHN1 deficiency
  • OPHN1 syndrome
  • OPHN1- related XLID
  • Oligophrenin-1 syndrome
  • X-linked intellectual Deficit with cerebellar Hypoplasia
  • X-linked intellectual disability-cerebellar hypoplasia syndrome
  • intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive
  • intellectual disability X-linked 60 (formerly)
  • intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance
  • intellectual disability, X-linked 60
  • intellectual disability, X-linked 60, formerly
  • intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance
  • mental retardation X-linked 60 (formerly)
  • mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
  • mental retardation, X-linked 60
  • mental retardation, X-linked 60, formerly
  • mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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