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Metadata
ID DOID:0111379
Name fetal akinesia deformation sequence syndrome 4
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
Xrefs

OMIM:618393

Synonyms

FADS4 [EXACT]

Parent Relationships

is_a fetal akinesia deformation sequence syndrome

is_a autosomal recessive disease

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