MEGDEL syndrome

disorder

SNOMED 711409002CUI C4040739

Overview

By MedlinePlus, National Library of Medicine

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

Signs & Symptoms

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

3-Methylglutaconic aciduria

Always present (100%)HP:0003535

Dystonic disease

Always present (100%)HP:0001332

Loss of milestones

Always present (100%)HP:0002376

Poor school performance

Always present (100%)HP:0001249

Psychomotor development deficiency

Always present (100%)HP:0001263

Increased blood lactate

Very frequent (80-99%)HP:0002151

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Brain wasting

Frequent (30-79%)HP:0012444

Increased serum alanine

Frequent (30-79%)HP:0003348

Decreased size of cranium

Occasional (5-29%)HP:0000252

Seizures

Occasional (5-29%)HP:0001250

Abnormality of the coagulation cascade

HP:0003256

Aplasia/Hypoplasia involving the central nervous system

HP:0002977

Atrophic cerebellum

HP:0001272

Encephalopathy

HP:0001298

Extrapyramidal syndrome

HP:0002071

Feeding difficulties

HP:0011968

Generalised decreased muscle tone

HP:0001290

High blood ammonia levels

HP:0001987

Inability to walk

HP:0002540

Lacticacidemia

HP:0003128

Low blood sugar

HP:0001943

Neonatal sepsis

HP:0040187

No speech development

HP:0001344

Optic atrophy

HP:0000648

Peripheral hypotonia

HP:0001252

Postnatal failure to thrive

HP:0001508

Susceptibility to infection

HP:0002719

Related Conditions

3-Methylglutaconic aciduria type 4(parent)

Disorder of mitochondrial respiratory chain complexes(parent)

Congenital sensorineural hearing loss(parent)

Inherited metabolic disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 711409002
UMLS CUI: C4040739
Fully Specified Name: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (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.