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Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
ORPHA:137639
Classification level: Subtype of disorder- 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: -
Detailed information
Guidelines
- Clinical practice guidelines
- Deutsch (2022) - AWMF
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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