Lethal congenital contracture syndrome 7
MONDO:0014569Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.
Also known as: CNTNAP1 lethal congenital contracture syndrome, lethal congenital contracture syndrome 7, lethal congenital contracture syndrome caused by mutation in CNTNAP1, lethal congenital contracture syndrome type 7, LCCS7
1 clinical trial for this condition and its sub-types.
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Disease
(717)
Hereditary disease
(188)
Human disease
(15)
Developmental defect during embryogenesis
(8)
Congenital limb malformation
(3)
Disease of genetic or genomic mechanism
(2)
Arthrogryposis multiplex congenita
(1)
Arthrogryposis syndrome
(0)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)