Phenotype #0000307834

Individual ID	00416068
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), hypotrophy, microcephaly; dystrophy, microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; no stroke like episodes; no polyneuropathy; feeding difficulties; poor fixation, strabismus divergens; no cardiomyopathy; 1y-MRI brain cerebellar hypoplasia;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
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