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Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

Synonym(s) Ataxia-delayed dentition-hypomyelination syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • E75.2
MeSH -
MedDRA -


Disease definition

Leukoencephalopathy-ataxia-hypodontia-hypomyelination 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
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