Infantile leukoencephalopathy and megalencephaly

disorder

SNOMED 703536004CUI C1858854

Overview

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

Signs & Symptoms

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

Large head

Always present (100%)HP:0000256

Macrencephaly

Always present (100%)HP:0001355

Ataxia

Frequent (30-79%)HP:0001251

Behavioral changes

Frequent (30-79%)HP:0000708

Cerebral subcortical cyst

Frequent (30-79%)HP:6000461

Diffuse swelling of cerebral white matter

Frequent (30-79%)HP:0007341

Epilepsy

Frequent (30-79%)HP:0001250

Intellectual deterioration

Frequent (30-79%)HP:0001268

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Macrocephaly, postnatal

Frequent (30-79%)HP:0005490

Progressive degeneration of movement

Frequent (30-79%)HP:0002333

Unsteady walk

Frequent (30-79%)HP:0002317

Athetoid movements

Occasional (5-29%)HP:0002305

Autism

Occasional (5-29%)HP:0000717

Cerebral white matter atrophy

Occasional (5-29%)HP:0012762

Clumsiness

Occasional (5-29%)HP:0002312

Dystonic disease

Occasional (5-29%)HP:0001332

Extrapyramidal syndrome

Occasional (5-29%)HP:0002071

Mental-retardation

Occasional (5-29%)HP:0001249

Prolonged seizure

Occasional (5-29%)HP:0002133

Delayed motor milestones

HP:0001270

Diffuse spongiform leukoencephalopathy

HP:0006943

Mental retardation, mild

HP:0001256

Related Conditions

Macroencephaly(parent)

Hereditary disorder of nervous system(parent)

Leukoencephalopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 703536004
UMLS CUI: C1858854
Fully Specified Name: Megalencephalic leukoencephalopathy with subcortical cysts (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.