Phenotype #0000307838

Individual ID	00416072
Associated disease	COQ10D
Phenotype details	see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; no regression in development; 15m-spasticity; no truncal hypotonia; 2,5y-seizures, generalized; no status epilepticus; no stroke like episodes; no encephalopathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 15m-MRI brain no cerebellar atrophy (visual inspection); no cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); bilateral, thalamic lesions; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	2y6m (2 years, 6 months)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	developmental delay, leg spasticity
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