X-linked intellectual disability, Najm type

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X-linked intellectual disability, Najm type

Synonyms: MICPCH | X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

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X-linked intellectual disability, Najm type?

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Advocacy Organizations

The CASK Gene Foundation

The CASK Gene Foundation was created to improve the lives of those impacted by CASK gene disorders by acting as a global voluntary health organization, dedicated to: Improve awareness, education, and advocacy relating to this condition, provide assistance to patients and their families, support and engage in research to accelerate the path to better diagnosis, treatment and a cure.

Clinical Trials

For a list of clinical trials in this disease area, please click here.