Category: QA0 - Neurodevelopmental disorders related to specific genetic pathogenic variants

 Chapter Notes

 QA0

Neurodevelopmental disorders related to specific genetic pathogenic variants

Code also, if applicable, any associated conditions, such as:

attention-deficit hyperactivity disorders (F90.-)

autism spectrum disorder (F84.0)

developmental and epileptic encephalopathy (G93.45)

epilepsy, by specific type (G40.-)

intellectual disabilities (F70-F79)

pervasive developmental disorders (F84.-)

 QA0.0

Neurodevelopmental disorders related to pathogenic variants in specific genes

 QA0.01

Neurodevelopmental disorders related to pathogenic variants in certain specific genes

 QA0.010

Neurodevelopmental disorders, related to pathogenic variants in ion channel genes

 QA0.0101

SCN2A-related neurodevelopmental disorder

 QA0.0102

CACNA1A-related neurodevelopmental disorder

 QA0.0109

Neurodevelopmental disorder related to pathogenic variant in other ion channel gene

SCN8A-related neurodevelopmental disorder

 QA0.011

Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes

 QA0.012

Neurodevelopmental disorders, related to pathogenic variants in other receptor genes

 QA0.013

Neurodevelopmental disorders, related to pathogenic variants in other transporter and solute carrier genes

 QA0.0131

SLC6A1-related disorder

GABA transporter 1 deficiency

 QA0.0139

Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene

 QA0.014

Neurodevelopmental disorders, related to pathogenic variants in synapse related genes

 QA0.0141

Syntaxin-binding protein 1-related disorder

STXBP1-related disorders

 QA0.0142

DLG4-related synaptopathy

 QA0.0149

Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene

Other genetic synaptopathy

 QA0.015

Neurodevelopmental disorders, related to genes associated with transcription and gene expression

 QA0.0151

FOXG1 syndrome

FOXG1-related disorder

FOXG1-related encephalopathy

FOXG1-related neurodevelopmental disorder

 QA0.0159

Neurodevelopmental disorder, related to other genes associated with transcription and gene expression

 QA0.8

Other neurodevelopmental disorders related to pathogenic variants in other specific genes