Global Variome shared LOVD

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Phenotype #0000237143 Individual ID 00311894 Associated disease RRS Phenotype details hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; no cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe Diagnosis/Initial Robinow syndrome Inheritance Isolated (sporadic) Diagnosis/Definite DRS2 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 2020-09-30 09:24:57 +02:00 (CEST) Date last edited N/A

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