Fetal akinesia deformation sequence 1
MONDO:0100101Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.
Also known as: FADS1, Pena-Shokeir syndrome type 1, Pena-Shokeir syndrome, type 1
10 clinical trials for this condition and its sub-types.
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Disease
(618)
Hereditary disease
(172)
Respiratory system disorder
(127)
Syndromic disease
(24)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Congenital limb malformation
(3)
Disease of genetic or genomic mechanism
(2)
Arthrogryposis multiplex congenita
(1)
Multiple congenital anomalies/dysmorphic syndrome
(1)