OBO ID: DOID:0111379
Term Name: fetal akinesia deformation sequence syndrome 4 Search Ontology:
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 )
OTHER fetal akinesia deformation sequence syndrome 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NUP88 Fetal akinesia deformation sequence 4 618393
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)