Perrault syndrome 1
MONDO:0009300Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.
Also known as: HSD17B4 Perrault syndrome, Perrault syndrome 1, Perrault syndrome caused by mutation in HSD17B4, Perrault syndrome type 1, PRLTS1, gonadal dysgenesis, 20 type, with deafness, ovarian dysgenesis with sensorineural deafness
18 clinical trials for this condition and its sub-types, 0 tagged with Perrault syndrome 1 itself.
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