Phenotype #0000307852

Individual ID	00416086
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; regression in development; 4y-ataxia; dysarthria; 4y-tremor; childhood spasticity; tetraparesis/paraparesis; no truncal hypotonia; 12y-seizures, tonic-clonic; stroke like episodes; no respiratory distress/insufficiency; no feeding difficulties; no dysmorphic features; 5y-MRI brain no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; tectal glioma;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	1y
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