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NEK9-related lethal skeletal dysplasia

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
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:0014870:  NEK9-related lethal skeletal dysplasia
Orphanet:464366: 
UMLS:C4310760: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found