Phenotype #0000307840
| Individual ID |
00416074 |
| Associated disease |
COQ10D |
| Phenotype details |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; regression in development; no ataxia; no dystonia; no dysarthria; no dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; 16m-seizures, generalized; repetitive status epilepticus; 16m-stroke like episodes; encephalopathy; sensory motor polyneuropathy; no respiratory distress/insufficiency; feeding difficulties; abnormal VEPs; no cardiomyopathy; no dysmorphic features; scoliosis, contractures; MRI brain 14,3y-18.7y cerebellar atrophy (visual inspection); cerebellum reduced in volume ; no cerebellar hypoplasia; brainstem reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum reduced in volume ; parieto-occipital, ri>le; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; parieto-occipital; normal myelination; normal myelination |
| Diagnosis/Initial |
neurodevelopmental delay |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
21y (21 years) |
| Age/Diagnosis |
- |
| Age/Onset |
16m |
| Phenotype/Onset |
status epilepticus |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-08-22 19:29:13 +02:00 (CEST) |
| Date last edited |
N/A |
|
