Phenotype #0000307841
| Individual ID |
00416075 |
| 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; truncal hypotonia; 13m-seizures, generalized; repetitive status epilepticus; 13m-stroke like episodes; encephalopathy; sensory motor polyneuropathy; 18y-tracheostomy secondary to acute respiratory failure ; feeding difficulties; abnormal VEPs; no cardiomyopathy; no dysmorphic features; scoliosis, contractures; MRI brain 17,3y-19.4y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; occipito-parietal, gliosis; 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 |
20y (20 years) |
| Age/Diagnosis |
- |
| Age/Onset |
13m |
| 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 |
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