Term Name: | fetal akinesia deformation sequence syndrome 4 |
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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 ) |