Global Variome shared LOVD

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Phenotype #0000237120 Individual ID 00311872 Associated disease RRS Phenotype details 12d-prominent forehead, flat occiput, micrognathia, prominent eyes, hypertelorism, downslanting palpebral fissures, flat nasal bridge, nuchal edema, congenital pes equinovarus, congenital atrioventricular septal defect, recurrent respiratory infections; deceased Diagnosis/Initial Robinow syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite OPSMD Age/Examination 00y00m12d (12 days) 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 16:10:21 +02:00 (CEST) Date last edited 2020-09-29 19:57:24 +02:00 (CEST)

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