Cystic leukoencephalopathy without megalencephaly

disorder

SNOMED 720825005CUI C2751843

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.

Cognitive delay

Always present (100%)HP:0001263

Delayed language development

Always present (100%)HP:0000750

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Seizures

Frequent (30-79%)HP:0001250

Abnormal CNS myelination

Occasional (5-29%)HP:0011400

Abnormal deposits of calcium in the brain

Occasional (5-29%)HP:0002514

Ataxia

Occasional (5-29%)HP:0001251

Athetoid movements

Occasional (5-29%)HP:0002305

Decreased size of cranium

Occasional (5-29%)HP:0000252

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Doll-like facies

Occasional (5-29%)HP:0000295

Dystonic movements

Occasional (5-29%)HP:0001332

Global developmental delay, severe

Occasional (5-29%)HP:0011344

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Leukoencephalopathy

Occasional (5-29%)HP:0002352

Sensorineural deafness

Occasional (5-29%)HP:0000407

Focal white matter lesions

HP:0007042

Problems speaking

HP:0002465

Related Conditions

Leukoencephalopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Congenital anomaly of cerebrum(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Cyst of cerebrum(parent)

Quick Facts

SNOMED CT: 720825005
UMLS CUI: C2751843
Fully Specified Name: Cystic leukoencephalopathy without megalencephaly (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.