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 )

Relationships
is a type of: arthrogryposis multiplex congenita