Neurodevelopmental disorder with hypotonia, neuropathy, and deafness: genes and variants
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness is linked to 1 analyzed protein (SPTBN4). 2 DNA variants are known to cause it; 30 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, neuropathy, and deafness
SPTBN4: Spectrin beta chain, non-erythrocytic 4
It stabilizes axonal membrane domains and organizes ion channels and cytoskeletal complexes at nodes of Ranvier and neuromuscular structures. Biallelic pathogenic variants cause a severe neurodevelopmental disorder with congenital hypotonia, neuropathy, deafness, and respiratory insufficiency.
2 disease-causing and 30 uncertain variants in SPTBN4 are linked to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.
Known disease-causing variants in Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SPTBN4 R246P | 246 | Calponin-homology (CH) 2 | Disease-causing (★) |
| SPTBN4 R2435C | 2435 | PH | Disease-causing |
Frequently asked questions
Which genes are linked to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness?
In CATVariant, Neurodevelopmental disorder with hypotonia, neuropathy, and deafness is linked to 1 analyzed protein: SPTBN4 (Spectrin beta chain, non-erythrocytic 4).
How many genetic variants are linked to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness?
45 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 30 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 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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