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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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)

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