Phenotype #0000229974

Individual ID 00302896
Associated disease NBIA
Phenotype details walk unsteadily-22m to 3y; speech single word; no dystonia; epileptic seizure; cognitive dysfunction; MRI brain reduced cerebral white matter, thin corpus callosum, clear gray matter boundaries, cerebral lateral ventricle expanded, SWI hypointensity in bilateral globus pallidus and brainstem ventral side, SEEG/VEEG wide spike wave, sharp wave, spine slow wave; milk allergy, thrombocytopenia, atelencephalia, developmental delay
Diagnosis/Initial developmental delay
Inheritance Isolated (sporadic)
Diagnosis/Definite NBIA5
Age/Examination -
Age/Onset 00y19m
Phenotype/Onset 19m upper limbs jittered repeatedly
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 15:28:59 +02:00 (CEST)
Date last edited 2020-06-03 15:55:54 +02:00 (CEST)

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