Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000230406 Individual ID 00303329 Associated disease SGS Phenotype details Scoliosis (HP:0002650), Bifid uvula (HP:0000193), Wide anterior fontanel (HP:0000260) Diagnosis/Initial Shprintzen-Goldberg syndrome Inheritance Isolated (sporadic) Diagnosis/Definite SGS Age/Examination 3m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Katta M Girisha Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-04 16:44:02 +02:00 (CEST) Date last edited N/A

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