Leucoencephalopathy with calcifications and cysts

disorder

SNOMED 1186710001CUI C3281200

Overview

Leucoencephalopathy with calcifications and cysts 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.

Abnormal deposits of calcium in the brain

Very frequent (80-99%)HP:0002514

Cerebral cystic malformation

Very frequent (80-99%)HP:0010576

Leukoencephalopathy

Very frequent (80-99%)HP:0002352

Ataxia

Frequent (30-79%)HP:0001251

Basal ganglion calcification

Frequent (30-79%)HP:0002135

Cerebellar dentate nucleus calcification

Frequent (30-79%)HP:0002461

Cognitive deficits

Frequent (30-79%)HP:0100543

Corticospinal signs

Frequent (30-79%)HP:0007256

Emotional lability

Frequent (30-79%)HP:0000712

Intellectual deterioration

Frequent (30-79%)HP:0001268

Intracerebral periventricular calcifications

Frequent (30-79%)HP:0007229

Rosenthal fibres

Frequent (30-79%)HP:0100320

Seizures

Frequent (30-79%)HP:0001250

Subcortical white matter calcifications

Frequent (30-79%)HP:0007346

Cerebral hemorrhage

Occasional (5-29%)HP:0001342

Cerebral vascular events

Occasional (5-29%)HP:0001297

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Dystonic movements

Occasional (5-29%)HP:0001332

Gait disturbance

Occasional (5-29%)HP:0001288

Intracranial hypertension

Occasional (5-29%)HP:0002516

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Localized motor seizures

Occasional (5-29%)HP:0011153

Mental and motor retardation

Occasional (5-29%)HP:0001263

Paralysis on one side of body

Occasional (5-29%)HP:0002301

Posterior fossa cyst

Occasional (5-29%)HP:0007291

Tremor

Occasional (5-29%)HP:0001337

Psychotic episodes

Very rare (1-4%)HP:0000725

Extrapyramidal dysfunction

HP:0002071

Leukodystrophy

HP:0002415

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Cerebral calcification(parent)

Leukoencephalopathy(parent)

Cardiovascular system hereditary disorder(parent)

Cerebral small vessel disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Cyst of cerebrum(parent)

Quick Facts

SNOMED CT: 1186710001
UMLS CUI: C3281200
Fully Specified Name: Leukoencephalopathy with calcifications and cysts (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.