Phenotype #0000307870

Individual ID	00416104
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), birth preterm ; delayed motor development; delayed cognitive development; regression in development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; cortical blindness; dilated cardiomyopathy; 14m-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; mild thinning corpus callosum;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	1y6m (1 year, 6 months)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	respiratory distress/hypotonia
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