Phenotype #0000250710
| Individual ID |
00332522 |
| Associated disease |
? |
| Diagnosis/Initial |
developmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 35w, weight 2500g; weight 13.1 kg (Z-score −2.17); length 96 cm (4th %tile); OFC 50 cm (36th %tile); infantile hypotonia; no laryngomalacia; gastro-oesophageal reflux disease; recurrent pneumonia; no serous otitis media; motor delay; speech delay; learning difficulties; ECG atrial septal defect; exotropia; MRI brain predominant perivascular space, no structural anomaly; dysmorphic features; epicanthal folds; hypertelorism; no downslanting palpebral fissures; medially sparse eyebrows; high arched palate; no micrognathia; small, low set, posteriorly rotated ears; no single transverse palmar crease; no broad thumbs and first toes; fifth finger clinodactyly; no hypoplastic nails; no hypospadias; undescended testes |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y2m (4 years, 2 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 |
2021-02-19 19:19:34 +01:00 (CET) |
| Date last edited |
N/A |
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