Phenotype #0000223872
| Individual ID |
00296460 |
| Associated disease |
? |
| Diagnosis/Initial |
Weaver syndrome |
| Diagnosis/Definite |
IMMAS |
| Phenotype details |
see paper; ..., mild overgrowth; relative macrocephaly; no prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; downslanting palpebral fissures; epicanthal folds; low or broad nasal bridge; no prominent chin/jaw; developmental delay; mild intellectual disability (IQ66); normal corpus callosum; polymicrogyria; hypotonia; narrowed nipples, bilateral rib flaring; no finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; Bilateral foot pronation, pes planus, mild hypermobility of joints; no hypertrichosis; no pigmented nevi; Atypically soft skin; no CVS abnormalities; Frequent infections; no umbilical hernias; no cryptorchidism; |
| 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 |
2020-04-06 17:11:58 +02:00 (CEST) |
| Date last edited |
N/A |
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