Global Variome shared LOVD

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Phenotype #0000229918 Individual ID 00302837 Associated disease NBIA Phenotype details see paper; ..., profound developmental delay, intellectual disability, non-syndromic epileptic encephalopathy, early brain atrophy, no speech, bedridden, no sleep disturbance, age at regression 1y4m, no Rett-like features, spasticity quadriparesis, hypotonia, no extrapyramidal signs, optic disc atrophy, no microcephaly, 14m-epilepsy, MRI brain atrophy, no myelination delay, 3y-no iron deposition T2WI Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 04y (4 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-02 08:54:12 +02:00 (CEST) Date last edited 2020-06-02 09:03:12 +02:00 (CEST)

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