Phenotype #0000307866

Individual ID	00416100
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infantile dystonia; truncal hypotonia; no stroke like episodes; feeding difficulties; cortical visual impairment; no cardiomyopathy; MRI brain 3w-1y4m no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	developmental delay
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