Global Variome shared LOVD

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Phenotype #0000237103 Individual ID 00311855 Associated disease RRS Phenotype details height (45th); no macrocephaly, broad forehead, high forehead, midface hypoplasia, hypertelorism, mild long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, thin vermillion border, gingival hyperplasia, no bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly 5th fingers; short low implanted thumbs; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies Diagnosis/Initial Robinow syndrome Inheritance Isolated (sporadic) Diagnosis/Definite OMOD2 Age/Examination 10y3m (10 years, 3 months) 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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