Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000229977 Individual ID 00302900 Associated disease NBIA Phenotype details not walking; no speech; no dystonia; epileptic seizure; cognitive dysfunction; MRI brain reduced cerebral white matter, thin corpus callosum, clear gray matter boundaries, cerebral lateral ventricle and the third ventricle expanded, SWI hyperintensity in bilateral globus pallidus, abnormal SEEG/VEEG; atelencephalia, developmental delay Diagnosis/Initial developmental dealy Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination - Age/Onset 10m Phenotype/Onset 10m-developmental delay, 2y-seizures Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-03 15:56:13 +02:00 (CEST) Date last edited N/A

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