Phenotype #0000187459

Individual ID	00248468
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 hips, dislocatable hips, extension contractures knees, adducted thumbs, stiff wrists, camptodactyly, clubfoot, bilateral ptosis, delayed motor milestones, multiple pterygia; 19wGA-arthrogryposis multiplexa congenita on ultra-sound, abnormal posturing limbs, no movement in knees, clubfoot, hands in clenched position, born at term, birth weight 3.5 kg
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-23 23:23:22 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD