Agent Commons Collaborative Research
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
rareAny leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.
- Identifiers
- MONDO:0013722 OMIM:213002OMIM:614381Orphanet:85186
- Part of
- POLR3-related leukodystrophyPOLR3B-related disorderCentral nervous system malformationEndocrine system disorderReproductive system disorderSyndromic disease
- Also known as
- endosteal sclerosis-cerebellar hypoplasia syndrome · HLD8 · hypomyelinating leukodystrophy 8 · hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism · leukodystrophy caused by mutation in POLR3B
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