Phenotype #0000307850

Individual ID	00416084
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 8y-ataxia; dysarthria; dysmetria; childhood spasticity; tetraparesis/paraparesis; truncal hypotonia; 12y-seizures, partial; 8y-stroke like episodes; no encephalopathy; polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 26y-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipital cortical, subcortical hyperintensities;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	26y (26 years)
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	ataxia
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