Phenotype #0000307838
| Individual ID |
00416072 |
| Associated disease |
COQ10D |
| Phenotype details |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; no regression in development; 15m-spasticity; no truncal hypotonia; 2,5y-seizures, generalized; no status epilepticus; no stroke like episodes; no encephalopathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 15m-MRI brain no cerebellar atrophy (visual inspection); no cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); bilateral, thalamic lesions; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination |
| Diagnosis/Initial |
neurodevelopmental delay |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
2y6m (2 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
1d |
| Phenotype/Onset |
developmental delay, leg spasticity |
| 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 |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
