Phenotype #0000187453

Individual ID 00248462
Associated disease arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Initial distal arthrogryposis
Age/Examination -
Diagnosis/Definite DA-5D
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset -
Phenotype details see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; reduced fetal movement, abnormal position
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 2019-07-23 23:23:22 +02:00 (CEST)
Date last edited N/A

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