Phenotype #0000257463
| Individual ID |
00362050 |
| Associated disease |
? |
| Diagnosis/Initial |
developmental delay, hypotonia |
| Diagnosis/Definite |
- |
| Phenotype details |
developmental delay, hypotonia; mild proportionate short stature, height and weight below 0.4th percentile, no hormone investigations; broad forehead, straight eyebrows, tubular-shaped nose, broad nasal tip, small mouth with a slightly thin upper lip, and low-set, posteriorly rotated ears; fullness on backs of hands, short tapering fingers, clinodactyly of fifth finger, short toes; poor balance; no truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); abnormal movements, EEG inconclusive; microcephaly; intermittent nystagmus on upgaze; no saccadic abnormalities; no jerky eye movements; left convergent squint; 2y-stand; >4y-walk; 3 years, slightly slurred, needs speech and language therapy; mild speech delay; mainstream school with 1:1 support; behavioral difficulties; first MRI non-specific features and delayed global myelination, repeat normal |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
8y4m (8 years, 4 months) |
| 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 |
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