Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

MONDO:0015252

Also known as:BD syndromeintellectual disability - athetosis - microphthalmiaintellectual disability-athetosis-microphthalmia syndrome

Overview

Diagnosis

Biomarker and diagnostic research for severe microbrachycephaly-intellectual disability-athetoid cerebral palsy 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 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome.

181 publications have been identified in PubMed for severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome. Kisho has analyzed 103 by research type. Research spans Case Report / Case Series (29%), Review / Meta-Analysis (24%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	30

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1236

GARD

Genetic and Rare Diseases Info Center

GARD:3482

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications