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Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Disease definition

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is 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.

ORPHA:397709

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive spinocerebellar ataxia type 20
    • Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
    • SCAR20
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: Q87.8
  • OMIM: 616354
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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