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neurodevelopmental disorder with microcephaly, ataxia, and seizures - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with microcephaly, ataxia, and seizures

MONDO:0060577

Also known as:NEDMAS

Overview

GeneticsAutosomal recessive · SARS1 (chr 1)

OnsetINFANTILE, JUVENILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Bilateral tonic-clonic seizure, Microcephaly, Moderate intellectual disability, and Aggressive behavior and others; and common findings: Slender build and Pes planus.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Bilateral tonic-clonic seizure, Moderate intellectual disability, Aggressive behavior

Genetic Landscape

SARS1 function has not been fully characterized.

Neurodevelopmental disorder with microcephaly, ataxia, and seizures has limited evidence linking it to mutations in the SARS1 gene on chromosome 1.

Diagnosis

Genetic testing for SARS1 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neurodevelopmental disorder with microcephaly, ataxia, and seizures.

17 publications have been identified in PubMed for neurodevelopmental disorder with microcephaly, ataxia, and seizures. Research spans Case Report / Case Series (36%), Epidemiology / Natural History (29%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Patient case studies	5	36%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617709

GARD

Genetic and Rare Diseases Info Center

GARD:22576

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

neurodevelopmental disorder with microcephaly, ataxia, and seizures

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neurodevelopmental disorder with microcephaly, ataxia, and seizures

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications