Phenotype #0000187455

Individual ID	00248464
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; breech presentation, C‐section, arthrogryposis multiplexa congenita at birth
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