Last update 21 Mar 2024

Gonadal Dysgenesis XX Type Deafness

Basic Info

Synonyms
17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY, 17-beta-hydroxysteroid dehydrogenase 4, deficiency of, Bifunctional enzyme deficiency
+ [27]
Introduction
A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills.

Analysis

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