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autosomal recessive limb-girdle muscular dystrophy type R18 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Limb-girdle muscular dystrophy; and common findings: Intellectual disability, Myalgia, Brain shrinkage (cerebral atrophy), and Hip dysplasia and others. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Poor speech, Inability to walk, Dystonia
Muscles	9	Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Muscle spasm
Digestive system	6	Hepatic steatosis, Enlarged liver (hepatomegaly), Elevated circulating hepatic transaminase concentration
Lab test results	2	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating hepatic transaminase concentration
Eyes	2	Strabismus, Cataract
Growth and development	2	Short stature, Intrauterine growth retardation
Bones and joints	2	Excessive inward curvature of the lower spine (hyperlordosis), Sideways curvature of the spine (scoliosis)
Head and neck	1	Microcephaly
Arms and legs	1	Limb-girdle muscular dystrophy

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autosomal recessive limb-girdle muscular dystrophy type R18

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autosomal recessive limb-girdle muscular dystrophy type R18

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications