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Leukodystrophy, hypomyelinating, 5
rareHypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
- Identifiers
- MONDO:0012514 OMIM:610532Orphanet:85163
- Causal genes
- HYCC1
- Part of
- Leukodystrophy
- Also known as
- FAM126A leukodystrophy · HLD5 · hypomyelinating leukodystrophy 5 · hypomyelinating leukodystrophy type 5 · hypomyelination - congenital cataract
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