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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]
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