QA0.01 Neurodevelopmental disorders related to pathogenic variants in certain specific genes

Codes

• QA0.010Neurodevelopmental disorders, related to pathogenic variants in ion channel genes

  • QA0.0101SCN2A-related neurodevelopmental disorder
  • QA0.0102CACNA1A-related neurodevelopmental disorder
  • QA0.0109Neurodevelopmental disorder related to pathogenic variant in other ion channel gene
• QA0.011Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes
• QA0.012Neurodevelopmental disorders, related to pathogenic variants in other receptor genes
• QA0.013Neurodevelopmental disorders, related to pathogenic variants in other transporter and solute carrier genes

  • QA0.0131SLC6A1-related disorder
  • QA0.0139Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene
• QA0.014Neurodevelopmental disorders, related to pathogenic variants in synapse related genes

  • QA0.0141Syntaxin-binding protein 1-related disorder
  • QA0.0142DLG4-related synaptopathy
  • QA0.0149Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene
• QA0.015Neurodevelopmental disorders, related to genes associated with transcription and gene expression

  • QA0.0151FOXG1 syndrome
  • QA0.0159Neurodevelopmental disorder, related to other genes associated with transcription and gene expression