Phenotype #0000338882

Individual ID 00449711
Associated disease ?
Diagnosis/Initial microcephalic dwarfism
Diagnosis/Definite -
Phenotype details see paper; ..., no prenatal-onset growth restriction; no elevated sister chromatid exchange; mitochondrial DNA depletion muscle (>0.80); progressive external ophthalmoplegia, ataxia; postnatally, weight, height and OFC significantly reduced
Inheritance Familial, autosomal recessive
Age/Examination >18y (later than 18 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 2024-05-03 10:10:03 +02:00 (CEST)
Date last edited N/A

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