Term Name: fetal akinesia deformation sequence syndrome 2
Synonyms: FADS2
Definition: A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2.
Ontology: Human Disease [DOID:0111378]   ( DOID:0111378 )

Relationships
is a type of: autosomal recessive disease fetal akinesia deformation sequence syndrome