HSD17B4 Perrault syndromePerrault syndrome 1Perrault syndrome caused by mutation in HSD17B4Perrault syndrome type 1PRLTS1gonadal dysgenesis, 20 type, with deafnessovarian dysgenesis with sensorineural deafness
Definition
Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.
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