Global Variome shared LOVD

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Phenotype #0000237098 Individual ID 00311850 Associated disease RRS Phenotype details macrocephaly, no frontal bossing, high forehead, no midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, no wide nasal bridge, no short nose, long philtrum, triangular mouth, gingival hyperplasia, absent uvula, no cleft soft palate, dental anomalies, micrognathia; mesomelia; brachydactyly; clinodactyly; no camptodactyly; broad thumb; no fetal finger/toe pads; broad 1st toe; renal anomalies; cardiac anomalies Diagnosis/Initial Robinow syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite RRS2 Age/Examination 5y (5 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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