Global Variome shared LOVD

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Phenotype #0000237108 Individual ID 00311860 Associated disease RRS Phenotype details height (-2.1 SD); no macrocephaly, broad forehead, high forehead, no midface hypoplasia, no hypertelorism, no long eyelashes, no prominent eyes, anteverted nares, no wide nasal bridge, no thin vermillion border, no bilobed tongue, no dental anomalies, low set ears; mesomelia; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no renal anomalies; no cardiac anomalies Diagnosis/Initial Robinow syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite OMOD2 Age/Examination 30y (30 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 2020-09-29 15:19:08 +02:00 (CEST) Date last edited N/A

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