Phenotype #0000307862

Individual ID	00416096
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), 2d-died respiratory failure; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; no stroke like episodes; 1d-respiratory distress/insufficiency; hypertrophic;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	2d
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