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Features include always present findings: Progressive microcephaly, Microcephaly, and Profound global developmental delay; and common findings: Epicanthus, Sloping forehead, Low muscle tone (hypotonia), and High palate and others. 21 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 6 | Enlarged brain ventricles (ventriculomegaly), Overactive reflexes (hyperreflexia), Brain shrinkage (cerebral atrophy) |
Muscles | 3 | Low muscle tone (hypotonia), Cerebellar vermis atrophy, Brain shrinkage (cerebral atrophy) |
Head and neck | 3 | High palate, Progressive microcephaly, Microcephaly |
QARS1 function has not been fully characterized.
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome is caused by mutations in the QARS1 gene on chromosome 3.
Genetic testing for QARS1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 9 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome.
8 publications have been identified in PubMed for diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Diagnostic / Biomarker (13%).
Ahmad R (2025). [PMID: 40448856](https://pubmed.ncbi.nlm.nih.gov/40448856/). *Mol Biol Rep*. [Review / Meta-Analysis]
Aughey GN (2025). [PMID: 39692517](https://pubmed.ncbi.nlm.nih.gov/39692517/). *Brain*. [Case Report / Case Series]
Abdel-Hamid MS (2025). [PMID: 39966089](https://pubmed.ncbi.nlm.nih.gov/39966089/). *Clin Genet*. [Diagnostic / Biomarker]
Ahmad SR (2025). [PMID: 40371665](https://pubmed.ncbi.nlm.nih.gov/40371665/). *Clin Genet*. [Case Report / Case Series]
Corona-Rivera JR (2024). [PMID: 38564972](https://pubmed.ncbi.nlm.nih.gov/38564972/). *Mol Genet Metab*. [Review / Meta-Analysis]
Güven NE (2024). [PMID: 39359952](https://pubmed.ncbi.nlm.nih.gov/39359952/). *Mol Syndromol*. [Case Report / Case Series]
Farooqui S (2024). [PMID: 38179855](https://pubmed.ncbi.nlm.nih.gov/38179855/). *Am J Med Genet A*. [Case Report / Case Series]
Gowda VK (2024). [PMID: 39502845](https://pubmed.ncbi.nlm.nih.gov/39502845/). *J Pediatr Genet*. [Basic Science / Preclinical]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center