You are using an outdated browser. Please upgrade your browser to improve your experience.

lethal congenital contracture syndrome 7

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.
Uniprot Description A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period.
Mondo Term and Equivalent IDs
MONDO:0014569:  lethal congenital contracture syndrome 7
UMLS:C4225386: