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GENATLAS PHENOTYPE
last update : 17-03-2016
Symbol AMCSMA1
Location 5q13.2
HGNC id 456
Name arthrogryposis multiplex congenita-spinal muscular atrophy1
Other name(s) spinal muscular atrophy, type 0
Corresponding gene SMN1 , SMN2 , NAIP
Other symbol(s) AMC-SMA, SMA0, AMC1, AMCN1
Main clinical features
  • prenatal onset
  • generalized weakness and respiratory distress at birth
  • fatal at birth without respirator support
    • Genetic determination autosomal recessive
    Related entries SMA, SMA2,SMA3, SMA4
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   large genomic deletions encompassing the SMN gene often extend to involve the NAIP gene
    Remark(s)