Phenotype #0000233049

Individual ID 00307244
Associated disease DA
Phenotype details arthrogryposis multiplex congenita; knee flexion contracture; hip contracture; flexion contracture of finger; wrist flexion contracture; stiff shoulders; overlapping fingers; talipes; limited elbow extension; amyoplasia (not typical); decreased fetal movement (antenatal); diaphragmatic paralysis; elevated serum creatine kinase; hirsutism
Diagnosis/Initial distal arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Gianina Ravenscroft
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-08-05 17:01:04 +02:00 (CEST)
Date last edited 2020-10-27 08:49:44 +01:00 (CET)

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