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last update : 16-07-2018
Symbol IDMAN
Location 19q13.2
Name Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy
Corresponding gene SPTBN4
Main clinical features
  • severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy
  • spectrinopathy that disrupts excitable domains in axons
  • severe hypotonia and global developmental delays; feeding difficulties were common during infancy, leading to gastrostomy tube in all affected individuals; progressive neuropathy was implied by a loss of deep tendon reflexes by early childhood; severe hypotonia and global developmental delays; severe cognitive delays, with no language development, and central-vision impairment
  • epilepsy was a prominent clinical feature
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type MCA/MR
    Remark(s) . variants in SPTBN4 cause profound neurological dysfunction, probably by reducing or disrupting the clustering of Na+ and KCNQ2- and KCNQ3-subunit-containing K+ channels (PMID: 29861105))