Phenotype #0000307871

Individual ID	00416105
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), 20m-died sepsis; birth full term; delayed motor development; delayed cognitive development; 4m-spasticity; truncal hypotonia; 4m-seizures; no stroke like episodes; feeding difficulties; myocarditis; 1y-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; white matter cystic changes; basal ganglia involvement; thinning corpus callosum;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	1y8m (1 year, 8 months)
Age/Diagnosis	-
Age/Onset	4m
Phenotype/Onset	seizures
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