Global Variome shared LOVD

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Phenotype #0000237151 Individual ID 00311902 Associated disease RRS Phenotype details height <3rd percentile; OFC >98th; no frontal bossing; no high forehead; midface hypoplasia; no hypertelorism; telecanthus; no upslanting palpebral fissures; no long eyelashes; prominent eyes; blue sclerae; epicanthal folds; anteverted nares; wide nasal bridge; short nose; long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; cleft palate; bilobed tongue; no short neck; 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; no broad first toe; scoliosis or kyphosis; pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no urinary reflux; no inguinal hernia; ventricular septal defect; no umbilical hernia; no seizures; hearing loss; no omphalocele; no hepatomegaly Diagnosis/Initial Robinow syndrome Inheritance Isolated (sporadic) Diagnosis/Definite DRS3 Age/Examination 33y (33 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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