Term Name: | neurogenic-type arthrogryposis multiplex congenita-2 |
---|---|
Synonyms: | AMC neurogenic type, AMC2, AMCN, arthrogryposis multiplex congenita 2, neurogenic type, arthrogryposis multiplex congenita neurogenic type |
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. |
Ontology: | Human Disease [DOID:0090124] ( DOID:0090124 ) |