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CASK-related disorders

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

CASK-related disorders are rare genetic neurological conditions caused by variants in the CASK gene. Symptoms are varied and can include intellectual disability, epilepsy, and congenital nystagmus (involuntary eye movements). The most severe form, Microcephaly with Pontine and Cerebellar Hypoplasia (MICPCH), involves smaller head size and underdevelopment of the brain’s pons and cerebellum. (PMID: 24278995)

Included conditions:

Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as Microcephaly with pontine and cerebellar hypoplasia (MICPCH), MICPCH syndrome, – Note that it is listed in NORD as: syndromic X-linked intellectual disability Najm type

X-linked intellectual disability (XLID) with or without nystagmus- Note that it is listed in NORD as: FG syndrome.

Synonyms

  • CASK disorders
  • CASK-related intellectual disability
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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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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