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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00987 |
Fetal akinesia deformation sequence Pena-Shokeir syndrome, type 1 |
Fetal akinesia deformation sequence (FADS) is a heterogeneous disorder characterized by impaired fetal movement and resulting developmental defects. Fetal movement is essential for normal fetal development ... | Congenital malformation |
(FADS1) MUSK [HSA:4593] [KO:K05129] (FADS2) RAPSN [HSA:5913] [KO:K24924] (FADS3) DOK7 [HSA:285489] [KO:K24038] (FADS4) NUP88 [HSA:4927] [KO:K14318] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |