Term Name: fetal akinesia deformation sequence syndrome 4
Synonyms: FADS4
Definition: A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2.
Ontology: Human Disease [DOID:0111379]   ( DOID:0111379 )

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