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neurogenic-type arthrogryposis multiplex congenita-2
Summary
- Synonym
-
- 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.
- Super Class
- arthrogryposis multiplex congenita
External Links
- Disease Ontology
- DOID:0090124
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
