Phenotype #0000307839
| Individual ID |
00416073 |
| Associated disease |
COQ10D |
| Phenotype details |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; no regression in development; ataxia; spasticity; no tetraparesis/paraparesis; truncal hypotonia; no seizures; no stroke like episodes; no encephalopathy; no respiratory distress/insufficiency; feeding difficulties; slow saccadic movements; no cardiomyopathy; no dysmorphic features; MRI brain 4y-5.25y 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 |
4y (4 years) |
| Age/Diagnosis |
- |
| Age/Onset |
11m |
| Phenotype/Onset |
seizures |
| 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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