Human genes for neurogenic-type arthrogryposis multiplex congenita-2
Neurogenic-type arthrogryposis multiplex congenita-2 [DOID:0090124]
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.
Synonyms: neurogenic-type arthrogryposis multiplex congenita-2, DOID:0090124, neurogenictype arthrogryposis multiplex congenita2, AMC2, AMCN ...