Multiple mitochondrial dysfunctions syndrome type 4

disorder

SNOMED 1208621008CUI C4225348

Overview

Multiple mitochondrial dysfunctions syndrome type 4 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.

Decreased activity of mitochondrial complex I

Always present (100%)HP:0011923

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

No speech development

Always present (100%)HP:0001344

Optic atrophy

Always present (100%)HP:0000648

Profound global developmental delay

Frequent (30-79%)HP:0012736

Psychomotor regression

Frequent (30-79%)HP:0002376

Abnormality of the periventricular white matter

HP:0002518

Generalised decreased muscle tone

HP:0001290

Increased reflexes

HP:0001347

Involuntary, rapid, rhythmic eye movements

HP:0000639

Leukodystrophy

HP:0002415

Poor vision

HP:0000505

Unresponsive wakefulness

HP:0031358

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Inherited metabolic disorder of nervous system(parent)

Chronic nervous system disease(parent)

Chronic metabolic disease(parent)

Leucodystrophy(parent)

Inherited optic neuropathy(parent)

Multiple mitochondrial dysfunctions syndrome(parent)

Quick Facts

SNOMED CT: 1208621008
UMLS CUI: C4225348
Fully Specified Name: Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.