Global Variome shared LOVD

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Phenotype #0000237106 Individual ID 00311858 Associated disease RRS Phenotype details height (-1.7 SD); macrocephaly, broad forehead, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; broad 1st toe; genital hypoplasia; renal anomalies; no cardiac anomalies Diagnosis/Initial Robinow syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite OMOD2 Age/Examination 47y (47 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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