Phenotype #0000210219
| Individual ID |
00275608 |
| Associated disease |
? |
| Diagnosis/Initial |
Sotos syndrome |
| Diagnosis/Definite |
- |
| Phenotype details |
birth at term, birth weight 3,370g (-0.07), length 48.3cm (-0.92); weight 41.6kg (+2.61), height 135.3cm (+2.25), OFC 57.9cm (>+2.00); mild intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; autistic features (obsessive-compulsive tendencies); difficult/delayed social interactions; anxiety, attention deficit hyperactivity disorder; seizures; EEG abnormal focus on right; tic disorder; hypotonia; no hypertonia; MRI brain increased extra-axial spaces, mild ventriculomegaly; no ophthalmological findings; cardiomegaly, valve abnormality, abnormal EKG; advanced bone age, pes planus; infantile feeding difficulties; no brachycephaly; tall or broad forehead; long face; no protruding ears; short nose, long philtrum; hypotonic face/open mouth; high arched palate |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
7y (7 years) |
| 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 |
2020-01-11 14:20:58 +01:00 (CET) |
| Date last edited |
N/A |
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