Phenotype #0000346987
| Individual ID |
00458556 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
NEDHBA |
| Phenotype details |
see paper; ..., pregnancy unremarkable, birth-40w, weight 2.26kg (4th), OFC 34cm (50th); height 97cm (2nd), weight 15kg (2nd), OFC 47cm (-2, below 15th); mild-moderate global developmental delay, mild-moderate intellectual disability; no developmental regression; 2y-walk; current normal gross motor skills; ataxia; 1.5y-first speech, 3 words sentences; normal vision, no hearing loss; dysarthria; no dysmorphic features; mild cerebellar ataxia; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; sudden attack unawareness for 24h, in PICU 48h; no Bruxism, tempered tantrum, aggressiveness, no stereotypy; MRI 1m/1y5m-bilateral incomplete hippocampal rotation, thin corpus callosum, slightly delayed myelination, choroidal plexus cysts left lateral ventricle/right temporal horn |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
5y (5 years) |
| 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 |
2024-12-18 16:32:47 +01:00 (CET) |
| Date last edited |
N/A |
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