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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