Global Variome shared LOVD

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

Phenotype #0000245747 Individual ID 00327457 Associated disease SMALED2A Phenotype details HP:0002650 scoliosis; HP:0001760 abnormal foot morphology; HP:0002804 arthrogryposis multiplex congenita; HP:0003202 skeletal muscle atrophy Diagnosis/Initial Arthrogryposis multiplex congenita Inheritance Isolated (sporadic) Diagnosis/Definite SMALED2B Age/Examination 21y (21 years) Age/Diagnosis 21y Age/Onset 00y00m Phenotype/Onset - Protein - Owner name Francisco Ribeiro-Mourão Database submission license No license selected Created by Francisco Ribeiro-Mourão Date created 2021-01-21 13:48:16 +01:00 (CET) Date last edited 2021-01-24 12:49:37 +01:00 (CET)

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