Phenotype #0000034630
| Individual ID |
00047268 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability Excessive appetite Poor fine motor coordination Large bifrontal diameter Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Umbilical hernia |
| Inheritance |
Familial |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Ana Cohen |
| Database submission license |
No license selected |
| Created by |
William Gibson |
| Date created |
2014-08-18 20:27:43 +02:00 (CEST) |
| Date last edited |
N/A |
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