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lethal congenital contracture syndrome 6

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 ZBTB42 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. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities.
Mondo Term and Equivalent IDs
MONDO:0014549:  lethal congenital contracture syndrome 6
UMLS:C4015686: