Global Variome shared LOVD

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

Phenotype #0000350510 Individual ID 00464476 Associated disease OGS Phenotype details see paper; ..., birth weight 2948g (-1SD); bilateral swelling proximal interphalangeal joints; moderate intellectual disability, attended school for special educational needs; synophrys, low frontal hairline Diagnosis/Initial overgrowth Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 17.5y 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 2025-03-18 16:03:05 +01:00 (CET) Date last edited 2025-03-18 16:24:57 +01:00 (CET)

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