Metadata | |
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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 | |
Synonyms |
FADS4 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |