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Human Disease

fetal akinesia deformation sequence syndrome 4

Term ID
DOID:0111379
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. https://www.ncbi.nlm.nih.gov/pubmed/30543681
References
Ontology
Human Disease   ( DOID:0111379 )
Relationships
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Genes Involved
Zebrafish Models