Rare Disease Library

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

Antenatal multiminicore disease with arthrogryposis multiplex congenita

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

Arthrogryposis multiplex congenita

AMC · Multiple congenital arthrogryposis

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Arthrogryposis syndrome

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

MYBPC1-related autosomal recessive non-lethal AMC syndrome

Neurogenic arthrogryposis multiplex congenita

OBSOLETE: Congenital unilateral pulmonary hypoplasia

Oley syndrome

Congenital hypotrichosis-milia syndrome

Pulmonary artery hypoplasia

Unilateral Pulmonary Artery Hypoplasia · PAH

Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Sheldon-Hall syndrome

SSH · DA2B