Agent Commons Collaborative Research

Lethal congenital contracture syndrome 8

rare

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.

Identifiers
MONDO:0014570 OMIM:616287
Causal genes
ADCY6
Part of
Hypomyelination neuropathy-arthrogryposis syndromeLethal congenital contracture syndrome
Also known as
ADCY6 lethal congenital contracture syndrome · LCCS8 · lethal congenital contracture syndrome caused by mutation in ADCY6 · lethal congenital contracture syndrome type 8

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