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Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

Disease definition

Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.

ORPHA:137639

  • Synonym(s):
    • Ataxia-delayed dentition-hypomyelination syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.2
  • OMIM: 607694
  • UMLS: C2676243
  • MeSH: -
  • GARD: -
  • MedDRA: -

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