Phenotype #0000307861
| Individual ID |
00416095 |
| Associated disease |
COQ10D |
| Phenotype details |
see paper; ... (esp. treatment), 8m-died respiratory failure; intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 14d-seizures; no stroke like episodes; encephalopathy; 7d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; intrauterine growth restriction; MRI brain 3w-3m cerebellar atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; bilateral cystic degeneration (noncerebellar); basal ganglia involvement, hyperintensities of bilateral. lentiform nuclei; cystic infarcts after crisis; restricted diffusion bilateral frontal wm; |
| Diagnosis/Initial |
neurodevelopmental delay |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
8m |
| Age/Diagnosis |
- |
| Age/Onset |
7d |
| Phenotype/Onset |
apnea |
| 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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