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Hydrocephaly-cerebellar agenesis syndrome

Disease definition

This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.

ORPHA:1397

  • Synonym(s):
    • X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy
  • ICD-10: Q04.3
  • OMIM: 307010
  • UMLS: C1844005
  • MeSH: -
  • GARD: 1200
  • MedDRA: -

Additional information

Further information on this disease

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