Phenotype #0000307857

Individual ID	00416091
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), 19m-died; hypertrophic intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; decreased fetal movements; 1d-MRI brain cerebellar hypoplasia; cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum;
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	9m
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	seizures, 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