Pontocerebellar hypoplasia type 13

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Synonyms: PCH13

A form of pontocerebellar hypoplasia characterized by infantile onset of severe global developmental delay with absent speech hypotonia feeding problems dysmorphic craniofacial features and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain which may already be apparent at an earlier stage include small hippocampus thin corpus callosum periventricular white matter abnormalities and Dandy-Walker malformation. Seizures nystagmus and cortical visual impairment have been reported in some cases.

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 July 2024

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Pontocerebellar hypoplasia type 13?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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