Phenotype #0000119802

Individual ID 00147086
Associated disease NELABA
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., neonatal onset; truncal hypotonia, spastic tetraparesis, dystonia, epilepsy, microcephaly, delayed psychomotor development, hyperlactatemia; MRI supra-tentorial cortical atrophy, ventricular dilatation, bifrontal white matter abnormalities, delayed myelination, progressive thalamus and putamen cerebral hyperintensities
Inheritance Familial, autosomal recessive
Age/Examination 10y (10 years)
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 2018-01-01 13:20:35 +01:00 (CET)
Date last edited N/A

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