Phenotype #0000321931
| Individual ID |
00431331 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDHFS |
| Phenotype details |
see paper; ..., global development delay; intellectual disability; 10m-sit, 18m-walk; severe speech delay; severe pica and aggressive behavior; neurologic features; truncal hypotonia; muscle weakness; seizures; no pyramidal signs; ataxia; MRI unremarkable (MRS showed decreased NAA and mildly elevated lactic acid); prominent ears, large ear lobes, and over-folded helices; epicanthal folds, down-slanting palpebral fissures; high arched narrow palate; prominent nasal tip, flat nasal bridge, under-developed nasolabial fold; thin upper lip; no pointy chin; early caries; skin abnormalities; dry skin, keratosis pilaris; excessive arm hair growth; exotropia; no hypermetropia; normal vision; no gastro-intestinal abnormalities; no swallowing difficulties; early obesity; normal hands/feet; hypermobility; small hands/feet, short toes |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
7y6m (7 years, 6 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 |
2023-02-08 20:43:15 +01:00 (CET) |
| Date last edited |
N/A |
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