Phenotype #0000307854

Individual ID	00416088
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), 2m-died cardio-respiratory failure; normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures, generalized; no stroke like episodes; encephalopathy; 2m-respiratory distress/insufficiency; feeding difficulties; hypertrophic; glomerulosclerosis; 1w-MRI brain cerebellar hypoplasia; no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; diffuse hyperintensities T2/FLAIR white matter;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	2m
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