Phenotype #0000307869

Individual ID	00416103
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; no truncal hypotonia; 2m-seizures, infantile spasm ; no stroke like episodes; no visual impairment/eye movement disorder; no cardiomyopathy; 32m-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; thinning corpus callosum;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	2m
Phenotype/Onset	infantile spasm
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-22 19:29:13 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD