Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 28-05-2018

Symbol	PRLTS6
Location	17q11.2
Name	Perrault Syndrome 6
Corresponding gene	ERAL1
Main clinical features	deafness and ovarian dysgenesis abdominal ultrasound revealed streak ovaries and small uterus, and ovarian biopsy showed fibrous tissue without primordial follicles
Genetic determination	autosomal recessive
Function/system disorder	ear
	sex-genitalia
Type	disease

Remark(s)