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lethal arthrogryposis-anterior horn cell disease syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe.
Mondo Term and Equivalent IDs
MONDO:0012750:  lethal arthrogryposis-anterior horn cell disease syndrome
MESH:C567502: 
Orphanet:53696: 
SCTID:715565004: 
UMLS:C2678471: