Phenotype #0000274434

Individual ID	00380582
Associated disease	PRLTS
Phenotype details	see paper; ..., 4y-sensorineural hearing loss; more severe in high frequencies, slowly progressive; 18y-primary amenorrhea, underdeveloped secondary sexual characteristics, abdominal ultrasound revealed streak ovaries and small uterus, ovary biopsy showed fibrous tissue without primordial follicles
Diagnosis/Initial	Perrault syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PRLTS6
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	04y
Phenotype/Onset	sensorineural hearing loss
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-08-19 09:13:10 +02:00 (CEST)
Date last edited	2021-08-19 09:18:24 +02:00 (CEST)

Global Variome shared LOVD