X-linked spinal muscular atrophy 2

Term ID

DOID:0111827

Synonyms

• infantile-onset X-linked spinal muscular atrophy
• SMAX2
• spinal muscular atrophy with arthrogryposis
• X-linked distal arthrogryposis multiplex congenita
• X-linked spinal muscular atrophy type 2

Definition

A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. (3)

References

• GARD:8521
• MESH:C535380
• OMIM:301830
• ORDO:1145
• SNOMEDCT_US_2023_03_01:719836007
• UMLS_CUI:C1844934

Ontology

Human Disease   ( DOID:0111827 )