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 InternationalCreative Commons License
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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