Hypotonia, infantile, with psychomotor retardation and characteristic facies: genes and variants
Hypotonia, infantile, with psychomotor retardation and characteristic facies is linked to 1 analyzed protein (UNC80). 1 DNA variants are known to cause it; 79 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Genes linked to Hypotonia, infantile, with psychomotor retardation and characteristic facies
UNC80: Protein unc-80 homolog
Within the NALCN complex, it helps control background sodium conductance and neuronal excitability. Biallelic loss-of-function variants cause IHPRF2, with severe hypotonia, developmental impairment, absent or limited speech, and characteristic facial features.
1 disease-causing and 79 uncertain variants in UNC80 are linked to Hypotonia, infantile, with psychomotor retardation and characteristic facies.
Known disease-causing variants in Hypotonia, infantile, with psychomotor retardation and characteristic facies
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| UNC80 R2536T | 2536 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Hypotonia, infantile, with psychomotor retardation and characteristic facies?
In CATVariant, Hypotonia, infantile, with psychomotor retardation and characteristic facies is linked to 1 analyzed protein: UNC80 (Protein unc-80 homolog).
How many genetic variants are linked to Hypotonia, infantile, with psychomotor retardation and characteristic facies?
109 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 79 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypotonia, infantile, with psychomotor retardation and characteristic facies 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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