Phenotype #0000319005

Individual ID 00428058
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., normal pregnancy, delivery, birth; early psychomotor development normal; deleayed speech development, 4y-language; 11y-psychomotor regression, progressive visual loss, degenerative retinopathy, cerebellar ataxia, hyperreflexia, external ophthalmoparesis, bilateral corneal clouding, abnormal behavior; muscle biopsy moderate subsarcolemmal accumulation mitochondria; 47y-severe walking difficulties, ataxia, blindness, cerebellar ataxia, hyperreflexia, external ophthalmoparesis predominating in vertical gaze, bilateral corneal clouding, abnormal behavior (easily frightened, sometimes aggressive; spontaneous speech markedly reduced
Inheritance Familial, autosomal recessive
Age/Examination 47y (47 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2022-12-20 11:59:20 +01:00 (CET)
Date last edited N/A

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