MeSH Browser

MeSH Supplementary: Gonadal dysgenesis XX type deafness
Unique ID: C537286
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537286
Entry Term(s): 17-beta-hydroxysteroid dehydrogenase 4, deficiency of; Ovarian dysgenesis with sensorineural deafness; Peroxisomal bifunctional enzyme complex deficiency; Peroxisomal bifunctional enzyme deficiency; Perrault syndrome
Registry Numbers: 0
Heading Mapped to: *Hearing Loss, Sensorineural; *Gonadal Dysgenesis, 46,XX
Frequency: 43
Note: A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic symptoms, such as mild intellectual disability and cerebellar and peripheral nervous system involvement. It is caused by mutations in the PEROXISOMAL MULTIFUNCTIONAL PROTEIN-2 (HSD17B4) gene. OMIM: 233400
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Gonadal dysgenesis XX type deafness MeSH Supplementary Concept Data 2025