3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome

disorder

SNOMED 1222672002CUI C4540171

Overview

3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome 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-methylglutaricaciduria

Always present (100%)HP:0003344

Absent tendon reflexes

Always present (100%)HP:0001284

Choreoathetosis

Always present (100%)HP:0001266

Cognitive delay

Always present (100%)HP:0001263

Frontal protuberance

Always present (100%)HP:0002007

High arched palate

Always present (100%)HP:0000218

Increased CSF lactic acid

Always present (100%)HP:0002490

Increased length of eyelashes

Always present (100%)HP:0000527

Salaam convulsion

Always present (100%)HP:0011097

Short neck

Always present (100%)HP:0000470

Speech difficulties

Always present (100%)HP:0000750

Squint

Always present (100%)HP:0000486

Wide-spaced nipples

Always present (100%)HP:0006610

3-Methylglutaconic aciduria

Very frequent (80-99%)HP:0003535

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Clonus

Very frequent (80-99%)HP:0002169

Delayed ability to walk

Very frequent (80-99%)HP:0031936

Delayed gross motor development

Very frequent (80-99%)HP:0002194

Diffuse white matter abnormalities

Very frequent (80-99%)HP:0007204

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Encephalopathy

Very frequent (80-99%)HP:0001298

Increased blood lactate

Very frequent (80-99%)HP:0002151

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Mitochondrial complex V deficiency

Very frequent (80-99%)HP:0011925

Muscle weakness

Very frequent (80-99%)HP:0001324

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

physical aggression

Very frequent (80-99%)HP:0000718

Prolonged seizure

Very frequent (80-99%)HP:0002133

Slender build

Very frequent (80-99%)HP:0001533

Supratentorial atrophy

Very frequent (80-99%)HP:0002059

Related Conditions

Global developmental delay(parent)

3-Methylglutaconic aciduria(parent)

Developmental hereditary disorder(parent)

Severe mental retardation (I.Q. 20-34)(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1222672002
UMLS CUI: C4540171
Fully Specified Name: 3-methylglutaconic aciduria type 9 (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.