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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Left bundle branch block, Cytochrome C oxidase-negative muscle fibers, and Exercise intolerance and others; and sometimes findings: Shrinkage of the cerebellum (cerebellar atrophy), Seizure, Abnormality of the liver, and Low muscle tone (hypotonia) and others. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Generalized hypotonia
Digestive system	5	Abnormality of the liver, Gastroesophageal reflux, Constipation
Brain and nerves	4	Seizure, Cerebral visual impairment, Exercise intolerance
Lab test results	3	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating hepatic transaminase concentration, Increased circulating lactate concentration
Heart and blood vessels	3	Arrhythmia, Left bundle branch block, Ventricular bigeminy
Eyes	2	Cerebral visual impairment, Ptosis
Head and neck	1	Facial palsy
Arms and legs	1	Limb muscle weakness
Growth and development	1	Failure to thrive

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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team