Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities: genes and variants
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities is linked to 1 analyzed protein (GNAI1). 8 DNA variants are known to cause it; 10 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
GNAI1: Guanine nucleotide-binding protein G(i) subunit alpha-1
It couples inhibitory G-protein-coupled receptors to downstream effectors, including suppression of adenylyl cyclase and modulation of ion channels. Pathogenic variants can disturb neuronal signaling and have been associated with developmental movement disorders and neurodevelopmental phenotypes.
8 disease-causing and 10 uncertain variants in GNAI1 are linked to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities.
Where Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities variants cluster
- GNAI1 G1 motif (positions 35–48): 4 of 8 disease-causing changes, 12.6× more than its size predicts.
Known disease-causing variants in Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GNAI1 T48K | 48 | G-alpha | Disease-causing (★★) |
| GNAI1 G45D | 45 | G-alpha | Disease-causing (★★) |
| GNAI1 D272N | 272 | G-alpha | Disease-causing (★★) |
| GNAI1 D173V | 173 | G-alpha | Disease-causing (★★) |
| GNAI1 T48I | 48 | G-alpha | Disease-causing (★) |
| GNAI1 G40C | 40 | G-alpha | Disease-causing (★) |
| GNAI1 Q204R | 204 | G-alpha | Disease-causing (★) |
| GNAI1 D272G | 272 | G-alpha | Disease-causing |
Frequently asked questions
Which genes are linked to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities?
In CATVariant, Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities is linked to 1 analyzed protein: GNAI1 (Guanine nucleotide-binding protein G(i) subunit alpha-1).
How many genetic variants are linked to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities?
26 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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