Phenotype #0000187443

Individual ID 00248452
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; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, born at term
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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