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Features include always present findings: Intellectual disability and Delayed speech and language development; and very common findings: Spasticity. 32 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 6 | Seizure, Intellectual disability, Delayed speech and language development |
SVBP function has not been fully characterized.
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly is associated with mutations in the SVBP gene on chromosome 1.
Genetic testing for SVBP is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 1 very common feature, 5 common features.
No clinical trials have been registered for neurodevelopmental disorder with ataxia, hypotonia, and microcephaly.
15 publications have been identified in PubMed for neurodevelopmental disorder with ataxia, hypotonia, and microcephaly. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (31%), and Epidemiology / Natural History (23%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 31% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:58 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Arms and legs
6 |
Split hand, Short 4th toe, Intrinsic hand muscle atrophy |
Head and neck | 2 | Coarse facial features, Microcephaly |
Muscles | 2 | Intrinsic hand muscle atrophy, Muscular ventricular septal defect |
Skin | 1 | Preauricular skin tag |
Heart and blood vessels | 1 | Muscular ventricular septal defect |
Hormones | 1 | Hypothyroidism |
Laboratory research |
4 |
31% |
Disease patterns and progression | 3 | 23% |
Research summaries | 2 | 15% |
Rezaei Z (2026). [PMID: 41825724](https://pubmed.ncbi.nlm.nih.gov/41825724/). *Eur J Med Genet*. [Epidemiology / Natural History]
Hwang S (2026). [PMID: 41152456](https://pubmed.ncbi.nlm.nih.gov/41152456/). *J Hum Genet*. [Epidemiology / Natural History]
Zhang J (2026). [PMID: 40855003](https://pubmed.ncbi.nlm.nih.gov/40855003/). *Mol Psychiatry*. [Basic Science / Preclinical]
Chen L (2025). [PMID: 39709005](https://pubmed.ncbi.nlm.nih.gov/39709005/). *Eur J Med Genet*. [Case Report / Case Series]
Del Greco C (2025). [PMID: 39963003](https://pubmed.ncbi.nlm.nih.gov/39963003/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Aughey GN (2025). [PMID: 39692517](https://pubmed.ncbi.nlm.nih.gov/39692517/). *Brain*. [Case Report / Case Series]
Launay N (2025). [PMID: 39412222](https://pubmed.ncbi.nlm.nih.gov/39412222/). *Aging Cell*. [Basic Science / Preclinical]
Sandal P (2025). [PMID: 39565297](https://pubmed.ncbi.nlm.nih.gov/39565297/). *Hum Mol Genet*. [Basic Science / Preclinical]
Škarica M (2025). [PMID: 40428407](https://pubmed.ncbi.nlm.nih.gov/40428407/). *Genes (Basel)*. [Review / Meta-Analysis]
Gupta R (2025). [PMID: 40973137](https://pubmed.ncbi.nlm.nih.gov/40973137/). *J Physiol*. [Basic Science / Preclinical]