Phenotype #0000237148
| Individual ID |
00311899 |
| Associated disease |
RRS |
| Phenotype details |
height <3rd percentile; OFC 50th-75th; no frontal bossing; no high forehead; midface hypoplasia; hypertelorism; no telecanthus; upslanting palpebral fissures; long eyelashes; prominent eyes; 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; cleft palate; bilobed tongue, short tongue; no short neck; micrognathia; abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; syndactyly; camptodactyly; broad thumb; no nail dysplasia; bifid first and second phalanges; hypoplastic phalanges; broad first toe; scoliosis or kyphosis; pectus anomaly; sacral dimple; no agenesis of the labia minora; small clitoris; urinary reflux; no inguinal hernia; ventricular septal defect, pulmonary atresia, hypoplastic right heart; no umbilical hernia; no seizures; no hearing loss; omphalocele; no hepatomegaly |
| Diagnosis/Initial |
Robinow syndrome |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
DRS3 |
| Age/Examination |
10y (10 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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