Phenotype #0000307851
| Individual ID |
00416085 |
| Associated disease |
COQ10D |
| Phenotype details |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 8y-ataxia; dysarthria; dysmetria; childhood spasticity; no tetraparesis/paraparesis; no truncal hypotonia; 12y-seizures; 8y-stroke like episodes; no encephalopathy; polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 27y-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; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; occipital-parietal and mediolateral, cortical and subcortical lesions, gliosis and oliguria; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipital cortical and subcortical hyperintensities; normal myelination; normal myelination |
| Diagnosis/Initial |
neurodevelopmental delay |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
27y (27 years) |
| Age/Diagnosis |
- |
| Age/Onset |
8y |
| Phenotype/Onset |
ataxia |
| 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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