Phenotype #0000238667

Individual ID	00314909
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Global developmental delay (cannot hold head up or sit up), microcephaly, infantile spasms, cortical visual impairment, West Syndrome, increased nuchal fold prenatally, history of sinus bradycardia, CSF abnormalities in neurotransmitter metabolites, periventricular calcifications, cereberal atrophy with prominet white matter loss, elevated choline and low N-acetylaspartatate in inferior, frontal, temporal, and parietal lobes bilaterally. Elevated startle reflex, involuntary movements.
Inheritance	Unknown
Age/Examination	1y19m (1 year, 19 months)
Age/Diagnosis	-
Age/Onset	3m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-20 15:09:17 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD