Phenotype #0000223859
| Individual ID |
00296447 |
| Associated disease |
? |
| Diagnosis/Initial |
Weaver syndrome |
| Diagnosis/Definite |
IMMAS |
| Phenotype details |
see paper; ..., overgrowth; macrocephaly, plagiocephaly (flat occiput); prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; no downslanting palpebral fissures; no low or broad nasal bridge; developmental delay; moderate intellectual disability (DQ48); normal corpus callosum; brain third ventricle enlargede ; hypotonia; advanced bone age (3y5m at 18m); mild scoliosis <20degrees; large hands; large feet; finger camptodactyly or clinodactyly; flexion disorders of fingers, knee joints contracture (mild), short second and fourth toes (bilateral), broad metaphyses, atrophy of gastrocnemius muscles; no excessive loose skin; no pigmented nevi; Plantar skin defects, ingrown nails of halluces; umbilical hernias |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
11y (11 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 14:06:31 +02:00 (CEST) |
| Date last edited |
2020-04-06 17:23:59 +02:00 (CEST) |
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