Metadata | |
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ID | DOID:0111378 |
Name | fetal akinesia deformation sequence syndrome 2 |
Definition | A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. https://www.ncbi.nlm.nih.gov/pubmed/18179903 |
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Synonyms |
FADS2 [EXACT] |
Parent Relationships |