Phenotype #0000321930
| Individual ID |
00431330 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDHFS |
| Phenotype details |
see paper; ..., global development delay; intellectual disability; 18m-sit, 34m-walk; single words (4–5) at 34 months; no meaningful contact fter status epilepticus and resuscitation; neurologic features; hypotonia; muscle weakness; seizures; pyramidal signs after status epilepticus and resuscitation; no ataxia; MRI dilation frontal interhemispheric cleft; over-folded helices, large earlobes, pronounced antitragus; long eyelashes, down-slanting palpebral fissures; high arched narrow palate; flat nasal bridge, broad bulbous nasal tip, long philtrum; thin upper lip; pointy chin; early caries; skin abnormalities; dry skin, keratosis pilaris; hypertrichosis back; exotropia; no hypermetropia; vision loss after status epilepticus and resuscitation; gastro-intestinal abnormalities; swallowing difficulties after status epilepticus and resuscitation; early obesity; normal extremities; normal joints; normal hands/feet |
| 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 |
2023-02-08 20:43:15 +01:00 (CET) |
| Date last edited |
N/A |
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