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GENATLAS PHENOTYPE
last update : 28-09-2021
Symbol SPG81
Location 2p23.3
Name spastic paraplegia 81
Corresponding gene SELENOI
Main clinical features
  • neurologic disorder with onset in infancy; delayed motor development, progressive spasticity, and other neurologic impairment, including impaired intellectual development and speech delay
  • also additional features, including bifid uvula, microcephaly, seizures, and variable ocular anomalies
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)