Phenotype #0000307843
| Individual ID |
00416077 |
| Associated disease |
COQ10D |
| Phenotype details |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 36m-ataxia; 2y-dysarthria; 3y-dysmetria; 3y-tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 5y-seizures, generalized tonic-clonic, apnea; repetitive status epilepticus; no stroke like episodes; encephalopathy; feeding difficulties; intermittent. divergent strabismus; no cardiomyopathy; no dysmorphic features; contractures, slight scoliosis; 6.25y-MRI brain no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination |
| Diagnosis/Initial |
neurodevelopmental delay |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
7y (7 years) |
| Age/Diagnosis |
- |
| Age/Onset |
1d |
| Phenotype/Onset |
leg spasticity |
| 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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