Term Name: | fetal akinesia deformation sequence syndrome 2 |
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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 ) |