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microcephaly-complex motor and sensory axonal neuropathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-complex motor and sensory axonal neuropathy syndrome

MONDO:0018507

Overview

Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.

Diagnosis

Biomarker and diagnostic research for microcephaly-complex motor and sensory axonal neuropathy syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 microcephaly-complex motor and sensory axonal neuropathy syndrome.

83 publications have been identified in PubMed for microcephaly-complex motor and sensory axonal neuropathy syndrome. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Patient case studies	45	54%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:423894

GARD

Genetic and Rare Diseases Info Center

GARD:21762

Questions for Your Care Team

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microcephaly-complex motor and sensory axonal neuropathy syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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