Phenotype #0000223874
| Individual ID |
00296462 |
| Associated disease |
? |
| Diagnosis/Initial |
Weaver syndrome |
| Diagnosis/Definite |
IMMAS |
| Phenotype details |
see paper; ..., overgrowth; macrocephaly; no prominent forehead or increased bifrontal diameter; prominent supraorbital ridges, enlarged frontal sinuses; no round face; mild hypertelorism; downslanting palpebral fissures; no low or broad nasal bridge; no prominent chin/jaw; developmental delay; learning disabilities (IQ100); complete agenesis corpus callosum; no hypotonia; no advanced bone age; no thoracic/chest abnormalities; no scoliosis; large hands; large feet; finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis; no pigmented nevi; no CVS abnormalities; no respiratory abnormalities; no umbilical hernias; cryptorchidism; Disjoined epididymides |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
15y5m (15 years, 5 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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