DISEASES

Disease-gene associations mined from literature

Human genes for fetal akinesia deformation sequence syndrome

Fetal akinesia deformation sequence syndrome [DOID:0111375]

A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.

Synonyms:  fetal akinesia deformation sequence syndrome,  DOID:0111375,  fetal akinesia deformation sequence disease,  fetal akinesia deformation sequence disorder,  fetal akinesia deformation sequence syndromes ...