Phenotype #0000307860

Individual ID	00416094
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), 4m-died cardio-respiratory failure; birth full term; microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 5d-seizures, generalized; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties reflux; structural abnormalities of the eyes; hypertrophic; hearing loss; MRI brain 1w-10w no cerebellar atrophy (visual inspection); 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	4m
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	apnea
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