Global Variome shared LOVD

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Phenotype #0000229904 Individual ID 00302822 Associated disease NBIA Phenotype details see paper; ..., severe developmental delay, characteristic facial features, chronic elevation of serum aspartate transaminase, lactate dehydrogenase, creatine kinase, and soluble interleukin‐2 receptor, persistent elevation of neuron specific enolase (NSE) in serum and cerebrospinal fluid; MRI brain using susceptibility‐weighted imaging (SWI) demonstrated iron accumulation in the GP and SN bilaterally Diagnosis/Initial severe developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 03y (3 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 2020-06-01 13:58:20 +02:00 (CEST) Date last edited N/A

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