Multiple mitochondrial dysfunctions syndrome type 3

disorder

SNOMED 1208620009CUI C3809165

Overview

Multiple mitochondrial dysfunctions syndrome type 3 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.

Arthrogryposis multiplex

Always present (100%)HP:0002804

Beta-aminoisobutyric aciduria

Always present (100%)HP:0032480

Central hypotonia

Always present (100%)HP:0001252

Decreased activity of mitochondrial complex II

Always present (100%)HP:0008314

Decreased size of cranium

Always present (100%)HP:0000252

Degeneration of cerebrum

Always present (100%)HP:0002059

Dilated cerebral ventricle

Always present (100%)HP:0002119

Elevated brain choline level by MRS

Always present (100%)HP:0012706

Elevated lactate:pyruvate ratio

Always present (100%)HP:0032653

Feeding difficulties

Always present (100%)HP:0011968

High glycine levels in cerebrospinal fluid

Always present (100%)HP:0500230

Hyperglycinemia

Always present (100%)HP:0002154

Hypoplasia of corpus callosum

Always present (100%)HP:0002079

Increased amniotic fluid index

Always present (100%)HP:0001561

Increased CSF lactic acid

Always present (100%)HP:0002490

Intrauterine growth retardation, IUGR

Always present (100%)HP:0001511

Lacticacidosis

Always present (100%)HP:0003128

More grooves in brain

Always present (100%)HP:0002126

Respiratory complex I deficiency

Always present (100%)HP:0011923

High arched palate

Frequent (30-79%)HP:0000218

Muscle weakness, generalised

Frequent (30-79%)HP:0003324

Retrognathia

Frequent (30-79%)HP:0000278

Wide-spaced nipples

Frequent (30-79%)HP:0006610

Seizures

Very rare (1-4%)HP:0001250

Cognitive deficits

HP:0100543

Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts

HP:6000830

Encephalopathy

HP:0001298

Impaired vision

HP:0000505

Intermittent fever

HP:0001954

Involuntary, rapid, rhythmic eye movements

HP:0000639

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Multiple mitochondrial dysfunctions syndrome(parent)

Quick Facts

SNOMED CT: 1208620009
UMLS CUI: C3809165
Fully Specified Name: Multiple mitochondrial dysfunctions syndrome type 3 (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.