Phenotype #0000307858

Individual ID	00416092
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), 70d-died coma; normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; no stroke like episodes; 1d-respiratory distress/insufficiency; feeding difficulties; no cardiomyopathy; cMRI prenatal normal; MRI brain prenatal-2d cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	70d
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