Phenotype #0000307864

Individual ID	00416098
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; left ventricular hypertrophy; intrauterine growth restriction; MRI brain 7d-9m cerebellar atrophy (visual inspection); cerebellar hypoplasia; cerebral atrophy (visual inspection), cystic changes; no stroke-like abnormalities; no cystic degeneration of cerebellum; cystic degeneration (noncerebellar) basal ganglia, wm, thalami; hyperintensity then cystic changes; thinning corpus callosum;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	4y6m (4 years, 6 months)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	respiratory distress
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