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Neurodevelopmental delay

Disease

1 paper

  • Humans1

Latest

American Journal of Human Genetics·24 Oct

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

Cohort study of 13 peopleMechanisms
Paper

Related

  • CG71561
  • Clathrin-mediated endocytosis1
  • Lipid and ceramide metabolism1
  • PI3K–AKT signalling1
  • PRDX31
  • PRDX31
  • Proteostasis1
  • RPS61
  • RPS6KC11
  • SPHK11
  • SPHK11
  • Synapse1
  • Tor1
  • Hypotonia1
  • Leukodystrophy1
  • mTOR signalling1
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