Phenotype #0000257464
| Individual ID |
00362051 |
| Associated disease |
? |
| Diagnosis/Initial |
developmental delay, hypotonia, poor feeding |
| Diagnosis/Definite |
- |
| Phenotype details |
developmental delay, hypotonia, poor feeding; short stature, proportionate; broad deep forehead, synophrys, hypertelorism, upslanting palpebral fissures, irregular dentition, downturned mouth, short neck, minimal facial expression; bilateral moderately severe vesicoureteric reflux and fixed talipes equinovarus, severe FTT, severe cyclical vomiting from 9 weeks; difficult to assess because of talipes; no apparent truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); EEG: intermittent slow activity with occipital sharp features, nil epileptiform; no microcephaly; minimal facial expression; no nystagmus; no saccadic abnormalities; no jerky eye movements; blue sclerae, absent tears, left convergent strabismus; 2y-head control; 30m-sit; 4y-stand; not walking; first single words by 7 years, <20 single words by 10.5 years; speech <20 single words; special school; very placid; MRI brain cerebellar arachnoid cyst considered unlikely to be of clinical significance |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-04-15 11:18:09 +02:00 (CEST) |
| Date last edited |
N/A |
|
