Global Variome shared LOVD

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Phenotype #0000237150 Individual ID 00311901 Associated disease RRS Phenotype details height <3rd percentile; OFC 50th; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no telecanthus; upslanting palpebral fissures; long eyelashes; prominent eyes; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; no triangular mouth; no thin upper lip; no absent uvula; cleft lip, cleft palate; no short neck; micrognathia; low set ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; hypoplastic phalanges (fifth); no broad first toe; no scoliosis or kyphosis; no sacral dimple; cryptorchidism; no hypospadias; buried micropenis; no urinary reflux; no inguinal hernia; patent ductus arteriosu, patent foramen ovale, tricuspid regurgitation; no umbilical hernia; no seizures; no omphalocele; no hepatomegaly Diagnosis/Initial Robinow syndrome Inheritance Isolated (sporadic) Diagnosis/Definite DRS3 Age/Examination 19m 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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