Phenotype #0000307848
| Individual ID |
00416082 |
| Associated disease |
COQ10D |
| Phenotype details |
see paper; ... (esp. treatment), 6y-died seizures; normal intrauterine growth; birth full term; microcephaly; delayed motor development; delayed cognitive development; no regression in development; 3m-ataxia; 6m-dystonia; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 3m-seizures, infantile spasms, later generalized tonic clonic seizures; no status epilepticus; no stroke like episodes; encephalopathy; polyneuropathy; no respiratory distress/insufficiency; feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 3y-MRI brain cerebellar atrophy (visual inspection); no cerebellar hypoplasia; cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; bilaterally symmetrical olivary nuclei hypertrophy, appearing hyperintense on T2W and FLAIR images, bilateral hippocampal atrophy, posterior limb of internal capsule showed hyperintense signal on T2W images; delayed myelination; delayed myelination |
| Diagnosis/Initial |
neurodevelopmental delay |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
3y (3 years) |
| Age/Diagnosis |
- |
| Age/Onset |
3m |
| Phenotype/Onset |
infantile spasms |
| 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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