Phenotype #0000245841

Individual ID 00327589
Associated disease SMALED2A
Phenotype details HP:0002747 Respiratory insufficiency due to muscle weakness; HP:0002878 Respiratory failure; HP:0011968 Feeding difficulties;HP:0003202 Skeletal muscle atrophy; HP:0001374 Congenital hip dislocation; HP:0001760 Abnormal foot morphology; HP:0001762 Talipes equinovarus; HP:0002804 Arthrogryposis multiplex congenita;HP:0002119 Ventriculomegaly; HP:0001558 Decreased fetal movement
Diagnosis/Initial arthrogriposis
Inheritance Familial, autosomal dominant
Diagnosis/Definite SMALED2B
Age/Examination 00y01m (1 month)
Age/Diagnosis 00y01m
Age/Onset 00y00m
Phenotype/Onset -
Protein -
Owner name Francisco Ribeiro-Mourão
Database submission license No license selected
Created by Johan den Dunnen
Date created 2021-01-24 12:48:29 +01:00 (CET)
Date last edited N/A

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