Phenotype #0000282254

Individual ID 00388714
Associated disease leukoencephalopathy
Diagnosis/Initial leukoencephalopathy
Diagnosis/Definite -
Phenotype details leukoencephalopathy; 7y-psychotic disorder, autistic traits, learning disability; 8y-brief generalized seizures consisting of loss of consciousness and generalized stiffening body and extremities, EEG normal, received treatment with levetiracetam (good response; 19y-obesity, genu valgus, talus valgus, fundoscopy papillary pallor
Inheritance Familial, autosomal recessive
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2021-11-07 10:44:29 +01:00 (CET)
Date last edited 2021-11-07 10:49:20 +01:00 (CET)

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