Phenotype #0000346982
| Individual ID |
00458551 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
NEDHBA |
| Phenotype details |
see paper; ..., buchal cord, respiratory distress; birth at term, birth-36w, weight 2.2kg (Z=2.24), OFC 30cm (Z=-3.42, microcephaly); OFC 30cm (below 3rd); failure to thrive; severe global developmental delay, severe intellectual disability; developmental regression; crawl, not walking; delayed speech, babbling; normal vision, no hearing loss; dysmorphic features, long eyelashes, large ears, broad nasal bridge, upturned nares; central tone hypotonia; reduced peripheral tone; normal to diminished deep tendon reflexes; seizures, epileptic encephalopathy; dysphagia requiring G-tube placement, constipation; anxiety; MRI 1.5y/4y-dysplastic short corpus callosum, small septum pellucidum whit short fornices, small "slit-like" frontal horns, bilateral incomplete hippocampal rotation, bilateral multiple small nodules of gray matter heterotopia extending from the occipital horns to overlying cortex; EEG subclinical seizure activity, hypsarrhythmia pattern |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
7y (7 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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