Phenotype #0000239239

Individual ID 00315488
Associated disease arthrogryposis
Inheritance Isolated (sporadic)
Diagnosis/Initial arthrogryposis multiplex congenita
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details see paper; reduced fetal movements; arthrogryposis multiplex congenita; bilateral perisylvian polymicrogyria; cerebellar hypoplasia; hypoplasia corpus callosum; femur fracture; central apnea; talipes; ulnar deviation of finger; single transverse palmian crease, ...
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-10-27 09:56:44 +01:00 (CET)
Date last edited N/A

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