Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome

disorder

SNOMED 1237514002CUI C4540096

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Anxiety disease

Frequent (30-79%)HP:0000739

Cavus foot

Frequent (30-79%)HP:0001761

Decreased body height

Frequent (30-79%)HP:0004322

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Delayed motor milestones

Frequent (30-79%)HP:0001270

Depression

Frequent (30-79%)HP:0000716

Dysdiadochokinesis

Frequent (30-79%)HP:0002075

Dysmetria

Frequent (30-79%)HP:0001310

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Eye size difference

Frequent (30-79%)HP:0100887

Fatty lump

Frequent (30-79%)HP:0012032

Gait disturbance

Frequent (30-79%)HP:0001288

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Generalized joint laxity

Frequent (30-79%)HP:0002761

High arched palate

Frequent (30-79%)HP:0000218

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Hyperthyroidism

Frequent (30-79%)HP:0000836

Hypoacusis

Frequent (30-79%)HP:0000365

Hyporeflexia

Frequent (30-79%)HP:0001265

Increased intramyocellular lipid droplets

Frequent (30-79%)HP:0012240

Increased muscle glycogen content

Frequent (30-79%)HP:0009051

Increased variation in muscle fibre size

Frequent (30-79%)HP:0003557

Mental retardation, mild

Frequent (30-79%)HP:0001256

Mildly elevated creatine kinase

Frequent (30-79%)HP:0008180

Mitochondrial myopathy

Frequent (30-79%)HP:0003737

Muscle pain

Frequent (30-79%)HP:0003326

Ocular hypotelorism

Frequent (30-79%)HP:0000601

Pectus excavatum

Frequent (30-79%)HP:0000767

Positive Gower sign

Frequent (30-79%)HP:0003391

Primary amenorrhea

Frequent (30-79%)HP:0000786

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Mitochondrial myopathy(parent)

Autosomal hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary ataxia(parent)

Cerebellar ataxia(parent)

Developmental delay(parent)

Developmental hereditary disorder(parent)

Hereditary cerebellar atrophy(parent)

Quick Facts

SNOMED CT: 1237514002
UMLS CUI: C4540096
Fully Specified Name: Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.