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GENATLAS PHENOTYPE
last update : 16-04-2019
Symbol SMAX
Location Xp11.3
Name X-linked infantile spinal-muscular atrophy
Corresponding gene UBA1
Other symbol(s) AMCD
Main clinical features
  • hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) . associated with loss of anterior horn cells and death in infancy
    • Genetic determination sex linked
    Related entries including arthrogryposis multiplex congenita distal, lethal (type I)
    Function/system disorder neurology
    neuromuscular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutation in exon 15 leading to alteration of the UBE1-mediated ubiquitin-proteasome system results in disturbed neuronal/motorneuron development
    Remark(s)