Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

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Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Synonyms: Autosomal recessive spinocerebellar ataxia type 20 | Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome | SCAR20

A rare genetic central nervous system malformation syndrome characterized by early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability global developmental delay progressively coarsening facial features relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

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 March 2024

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