Phenotype #0000347606

Individual ID 00459529
Associated disease PRLTS
Phenotype details see paper; ..., bilateral sensorineural hearing loss; severity profound; hearing aids; 2y-lactic acidosis; no hypoglycemia; MRI brain diffuse leukodystrophy; epilepsy; severe intellectual disability; proximal tubulopathy; retinopathy; hepatomegaly; transient liver failure; 8y-height 107cm
Diagnosis/Initial Perrault-syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 8y (8 years)
Age/Diagnosis 8y
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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