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Odontoleukodystrophy

Orpha number ORPHA77295
Synonym(s) Dentoleukoencephalopathy
Leukodystrophy with oligodontia
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E75.2
  • K00.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.


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Detailed information

Clinical genetics review
  • EN (2012)
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