Phenotype #0000347603

Individual ID 00459526
Associated disease PRLTS
Phenotype details see paper; ..., bilateral sensorineural hearing loss; severity profound; 48y-unilateral cochlear implant, previously bilateral hearing aids; primary ovarian insufficiency; primary amenorrhea; no lactic acidosis; no hypoglycemia; MRI brain normal; no epilepsy; no intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure; adult height 148cm
Diagnosis/Initial Perrault-syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 48y (48 years)
Age/Diagnosis 12m
Age/Onset -
Phenotype/Onset -
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 2025-01-08 10:12:39 +01:00 (CET)
Date last edited N/A

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