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lethal congenital contracture syndrome 4

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 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.
Mondo Term and Equivalent IDs
MONDO:0013965:  lethal congenital contracture syndrome 4
GARD:0012645: 
UMLS:C3554046: