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intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

MONDO:0018711

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 common findings: Narrow mouth, Narrow palate, Prominent nasal bridge, and Deeply set eye and others; and sometimes findings: Thick lower lip vermilion, Short chin, Ptosis, and Blue sclerae and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Delayed speech and language development, Intellectual disability, Specific learning disability

Diagnosis

Biomarker and diagnostic research for intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 18 common features.

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 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome.

203 publications have been identified in PubMed for intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome. Research spans Case Report / Case Series (34%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (23%).

Research Type	Count	% of Total
Patient case studies	65	34%

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 2:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:457365

GARD

Genetic and Rare Diseases Info Center

GARD:21906

Questions for Your Care Team

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Kisho

intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

Overview

Clinical Presentation

Diagnosis

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