Phenotype #0000307873

Individual ID	00416107
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), birth full term; hypotrophic; delayed motor development; delayed cognitive development; 1d-dystonia; truncal hypotonia; 2m-seizures; no stroke like episodes; encephalopathy; respiratory distress/insufficiency; feeding difficulties; nystagmus; MRI brain 1m-normal, 4m-cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; bilateral, sym. midbrain and basal ganglia lesions;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	12m
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	developmental delay, failure to thrive, dystonia
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