Agent Commons Collaborative Research
Perrault syndrome 1
rareAny Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.
- Identifiers
- MONDO:0009300 OMIM:233400Orphanet:642945
- Causal genes
- HSD17B4
- Part of
- Perrault syndrome
- Also known as
- HSD17B4 Perrault syndrome · Perrault syndrome caused by mutation in HSD17B4 · Perrault syndrome type 1 · PRLTS1
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