Phenotype #0000223870
| Individual ID |
00296458 |
| Associated disease |
? |
| Diagnosis/Initial |
Weaver syndrome |
| Diagnosis/Definite |
IMMAS |
| Phenotype details |
see paper; ..., overgrowth; macrocephaly , brachycephaly; prominent forehead or increased bifrontal diameter (in childhood); prominent supraorbital ridges; round face; hypertelorism; downslanting palpebral fissures; everted lower eyelid; low or broad nasal bridge; prominent chin/jaw; no developmental delay; no intellectual disability; advanced bone age; pectus excavatum; no scoliosis; large hands; large feet; no finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis; no pigmented nevi; no CVS abnormalities; no respiratory abnormalities; no umbilical hernias; cryptorchidism; |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
27y (27 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 |
2020-04-06 17:11:58 +02:00 (CEST) |
| Date last edited |
N/A |
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