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Leukoencephalopathy - ataxia - hypodontia - hypomyelination

Orpha number ORPHA137639
Synonym(s) Ataxia - delayed dentition - hypomyelination
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Neonatal/infancy
ICD-10
  • E75.2
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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


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Detailed information

Clinical genetics review
  • EN (2012)
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