Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000299016 Individual ID 00406541 Associated disease RRS Phenotype details short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; no depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; thin upper lip vermilion; gingival overgrowth; bifid tongue; micrognathia; retrognathia; no oral cleft; no short neck; pectus excavatum; no broad thumb; short palm; brachydactyly; no hypoplastic labia minora; no hypoplastic labia majora; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; scoliosis; rib fusion; mesomelia; hemivertebrae Diagnosis/Initial Robinow syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite RRS1 Age/Examination - 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 2022-04-01 11:58:12 +02:00 (CEST) Date last edited N/A

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