Phenotype #0000307868

Individual ID	00416102
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; infantile dystonia; infancy spasticity; no truncal hypotonia; 6m-seizures, infantile spasm ; no stroke like episodes; cortical visual impairment; no cardiomyopathy; MRI brain 6m-35m cerebellar atrophy (visual inspection); cerebellar hypoplasia; cerebral atrophy (visual inspection); no cystic degeneration of cerebellum; hyperintensity left lentiform nucleus;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	3y3m (3 years, 3 months)
Age/Diagnosis	-
Age/Onset	6m
Phenotype/Onset	infantile spasm
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