Phenotype #0000307833
| Individual ID |
00416067 |
| Associated disease |
COQ10D |
| Phenotype details |
see paper; ... (esp. treatment), normal intrauterine growth; birth preterm ; normal growth; delayed motor development; delayed cognitive development; regression in development; infantile dystonia; infancy spasticity; truncal hypotonia; 10w-seizures, focal seizures secondarily generalized; repetitive status epilepticus; no stroke like episodes; encephalopathy; no polyneuropathy; 1d-respiratory distress/insufficiency; feeding difficulties; no reaction to light or objects; no cardiomyopathy; dysmorphic features; intracerebral bleeding at age of 1 m; 20m-MRI brain cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area reduced in volume; cerebral atrophy (visual inspection); cerebrum reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination |
| Diagnosis/Initial |
neurodevelopmental delay |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
20m |
| Age/Diagnosis |
- |
| Age/Onset |
70d |
| Phenotype/Onset |
focal 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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