MGA7 - 3-methylglutaconic aciduria type 7

disorder

SNOMED 764860006CUI C4225393

Overview

MGA7 - 3-methylglutaconic aciduria type 7 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

Head circumference small for gestational age

Very frequent (80-99%)HP:0011451

Increased calcium level in kidney

Very frequent (80-99%)HP:0000121

Lens opacities

Very frequent (80-99%)HP:0000518

Neutropoenia

Very frequent (80-99%)HP:0001875

Renal cyst

Very frequent (80-99%)HP:0000107

Abnormality of the basal ganglia

Frequent (30-79%)HP:0002134

Arc de cercle

Frequent (30-79%)HP:0002179

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Central hypotonia

Frequent (30-79%)HP:0001252

Cerebral atrophy

Frequent (30-79%)HP:0002059

Choreoathetosis

Frequent (30-79%)HP:0001266

Corticospinal signs

Frequent (30-79%)HP:0007256

Delayed gross motor development

Frequent (30-79%)HP:0002194

Encephalopathy

Frequent (30-79%)HP:0001298

Extrapyramidal dysfunction

Frequent (30-79%)HP:0002071

Feeding difficulties

Frequent (30-79%)HP:0011968

Growth failure

Frequent (30-79%)HP:0001510

Hypoplastic bone marrow

Frequent (30-79%)HP:0005528

Increased blood lactate

Frequent (30-79%)HP:0002151

Increased reflexes

Frequent (30-79%)HP:0001347

Infection associated neutropenia

Frequent (30-79%)HP:0410256

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Jerking

Frequent (30-79%)HP:0001336

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Progressive extrapyramidal movement disorder

Frequent (30-79%)HP:0007153

Psychomotor regression in infants

Frequent (30-79%)HP:0002376

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Fatty liver

Occasional (5-29%)HP:0001397

Hypertonia

Occasional (5-29%)HP:0001276

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

3-Methylglutaconic aciduria(parent)

Quick Facts

SNOMED CT: 764860006
UMLS CUI: C4225393
Fully Specified Name: 3-methylglutaconic aciduria type 7 (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.