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arthrogryposis multiplex congenita CNS calcification

Disease Summary
Associated Targets (0)

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Mondo Description A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle.
Mondo Term and Equivalent IDs
MONDO:0022500:  arthrogryposis multiplex congenita CNS calcification
GARD:0000785: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found