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GENATLAS PHENOTYPE

last update : 23-03-2021

Symbol	ODG5
Location	9q34.3
Name	ovarian dysgenesis 5
Corresponding gene	SOHLH1
Main clinical features	primary amenorrhea, lack of secondary sex characteristics, and delayed bone age hormone analysis showed elevated levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH), whereas progesterone and estradiol levels were decreased pelvic ultrasound imaging revealed prepubertal- or infantile-sized uteri and hypoplastic or absent ovaries
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
	sex-genitalia
Type	disease

Remark(s)

homozygous-truncating mutations in SOHLH1 cause female nonsyndromic hypergonadotropic hypogonadism.(PMID: 25774885))