Phenotype #0000347495
| Individual ID |
00459419 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paperp; C-section due to failure dilatation uterine cervix; birth 40w, elective C-section, weight 3.52kg, length 52cm, OFC 35cm; weight 8,6kg (-1 SD), length 78cm (+1.5 SD), OFC 42.9cm (-2.69 SD); profound global development delay; bedridden; speech global hyporeactivity; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
1y5m (1 year, 5 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-12-27 14:26:09 +01:00 (CET) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
