Phenotype #0000187439

Individual ID 00248448
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; third trimester knee extension on ultra-sound
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen