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congenital muscular dystrophy with intellectual disability - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital muscular dystrophy with intellectual disability

MONDO:0018278

Also known as:CMD with intellectual disabilityCMD-MR

Overview

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 very common findings: Intellectual disability, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Floppy infant, and Hypoglycosylation of alpha-dystroglycan and others; and common findings: Microcephaly, Global developmental delay, Motor delay, and Cerebral cortical atrophy and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	13

Prognosis

Phenotype severity distribution: 5 very common features, 10 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 congenital muscular dystrophy with intellectual disability.

16 publications have been identified in PubMed for congenital muscular dystrophy with intellectual disability. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (31%), and Basic Science / Preclinical (25%).

Research Type	Count	% of Total
Patient case studies	6	38%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:370968

GARD

Genetic and Rare Diseases Info Center

GARD:17606

Questions for Your Care Team

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Kisho

congenital muscular dystrophy with intellectual disability

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital muscular dystrophy with intellectual disability

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications