neurogenic-type arthrogryposis multiplex congenita-2 (DOID:0090124)
Alliance: disease page
Synonyms: AMC2; AMC neurogenic type; AMCN; arthrogryposis multiplex congenita 2, neurogenic type; arthrogryposis multiplex congenita neurogenic type
Alt IDs: OMIM:208100, MESH:C536614, ORDO:1143, UMLS_CUI:C1859721
Definition: An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35.