Phenotype #0000257266
| Individual ID |
00361873 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., no abnormalities during pregnancy; normal delivery; birth 38w+1; severe intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; generalized hypotonia; no spasticity; no ataxia; very agitated, difficulties to concentrate; no sleep disturbances; MRI brain normal; no regression; no other neurological abnormalities; no facial dysmorphisms; malformed teeth; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; toe syndactyly both sides digII/III, sandal gap left foot, transverse palmar crease right hand; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; obesity; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (316 U/L) |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
7y8m (7 years, 8 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 |
2021-04-11 17:48:18 +02:00 (CEST) |
| Date last edited |
N/A |
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