Global Variome shared LOVD

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Phenotype #0000237102 Individual ID 00311854 Associated disease RRS Phenotype details no macrocephaly, frontal bossing, high forehead, midface hypoplasia, hypertelorism, no long eyelashes, no prominent eyes, anteverted nares, wide nasal bridge, no short nose, no long philtrum, triangular mouth, gingival hyperplasia, no absent uvula, cleft soft palate, delayed dental eruption, no micrognathia; mesomelia; brachydactyly; clinodactyly; camptodactyly; broad thumb; no fetal finger/toe pads; broad 1st toe; no genital hypoplasia; no renal anomalies; patent ductus arteriosus Diagnosis/Initial Robinow syndrome Inheritance Unknown Diagnosis/Definite - Age/Examination 8y (8 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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