Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation

disorder

SNOMED 718212006CUI C4273660

Overview

Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

3-Methylglutaconic aciduria

Very frequent (80-99%)HP:0003535

Brain inflammation

Very frequent (80-99%)HP:0002383

Central hypotonia

Very frequent (80-99%)HP:0001252

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

High blood ammonia levels

Very frequent (80-99%)HP:0001987

Low-set ears

Very frequent (80-99%)HP:0000369

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Oligohydramnios

Very frequent (80-99%)HP:0001562

Psychomotor retardation, moderate

Very frequent (80-99%)HP:0011343

Abnormal aortic valve morphology

Frequent (30-79%)HP:0001646

Abnormal pulmonary valve morphology

Frequent (30-79%)HP:0001641

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Chronic heart failure

Frequent (30-79%)HP:0001635

Cryptorchidism

Frequent (30-79%)HP:0000028

Enlarged liver

Frequent (30-79%)HP:0002240

Flexion contractures

Frequent (30-79%)HP:0001371

Hypoplastic or absent corpus callosum

Frequent (30-79%)HP:0007370

Hypospadias

Frequent (30-79%)HP:0000047

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Large mouth

Frequent (30-79%)HP:0000154

Poor growth

Frequent (30-79%)HP:0001510

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Respiratory failure

Frequent (30-79%)HP:0002878

Retrognathia

Frequent (30-79%)HP:0000278

Abnormal heart rate

Occasional (5-29%)HP:0011675

Epilepsy

Occasional (5-29%)HP:0001250

Renal anomalies

Occasional (5-29%)HP:0000077

Related Conditions

Mitochondrial myopathy(parent)

Myocardial disease(parent)

Encephalopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Neonatal cardiovascular disorder(parent)

Neonatal metabolic disorder(parent)

Quick Facts

SNOMED CT: 718212006
UMLS CUI: C4273660
Fully Specified Name: Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.