Rare Disease Library

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

Antenatal multiminicore disease with arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita

AMC · Multiple congenital arthrogryposis

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

Neurogenic arthrogryposis multiplex congenita

Sheldon-Hall syndrome

SSH · DA2B