Phenotype #0000307844
| Individual ID |
00416078 |
| Associated disease |
COQ10D |
| Phenotype details |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; regression in development; 15m-ataxia; 15m-dystonia; dysarthria; dysmetria; tremor; 15m-spasticity; hemiparesis; truncal hypotonia; 2y-seizures, none under medication; 2y-status epilepticus ; 2y-stroke like episodes; encephalopathy; no polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; strabismus; no cardiomyopathy; short bulbous nose, broad nasal bridge, long philtrum, deep-set eyes, broad eyebrows, impression of hypertelorism; MRI brain 1y6m-normal, 3y3m-no cerebellar atrophy (visual inspection); no cerebellar hypoplasia; no cerebral atrophy (visual inspection); parieto-occipital ri>le; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; T2/FLAIR abnormalities white matter (white matter and cortical); enlarged supratentorial ventricles; normal myelination; normal myelination |
| Diagnosis/Initial |
neurodevelopmental delay |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
3y6m (3 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
15m |
| Phenotype/Onset |
motoric regression, spasticity in lower extremities |
| 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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