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

MIM:618393

Ontology

Human Disease ( DOID:0111379 )

Relationships

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

autosomal recessive disease fetal akinesia deformation sequence syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models