Phenotype #0000237147
| Individual ID |
00311898 |
| Associated disease |
RRS |
| Phenotype details |
height <3rd percentile; OFC >98th; frontal bossing; no high forehead; midface hypoplasia; no hypertelorism; telecanthus; upslanting palpebral fissures; no long eyelashes; no prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; no triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft lip and/or palate; bilobed tongue; webbed neck; no micrognathia; no abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; no hypoplastic phalanges; broad first toe; no scoliosis or kyphosis; no pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no urinary reflux; no inguinal hernia; no heart defects; umbilical hernia; no seizures; no hearing loss; no omphalocele; no hepatomegaly |
| Diagnosis/Initial |
Robinow syndrome |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
DRS3 |
| Age/Examination |
27y (27 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-09-30 09:24:57 +02:00 (CEST) |
| Date last edited |
N/A |
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