Search Ontology:
Human Disease

fetal akinesia deformation sequence syndrome

Term ID
DOID:0111375
Synonyms
  • arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
  • FADS
  • fetal akinesia sequence
  • foetal akinesia deformation sequence syndrome
  • foetal akinesia sequence
  • Pena-Shokeir syndrome type 1
Definition
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. (3)
References
Ontology
Human Disease   ( DOID:0111375 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models