Globoid cell leukodystrophy, late-onset

disorder

SNOMED 41142009CUI C0268252

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.

Elevated csf protein

Very frequent (80-99%)HP:0002922

Reduced leukocyte galactocerebrosidase activity

Very frequent (80-99%)HP:0034322

Abnormal CNS myelination

Frequent (30-79%)HP:0011400

Abnormal visual evoked responses

Frequent (30-79%)HP:0000649

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Clumsiness

Frequent (30-79%)HP:0002312

Deafness

Frequent (30-79%)HP:0000365

Decreased nerve conduction velocity

Frequent (30-79%)HP:0000762

Delayed brainstem auditory evoked response conduction time

Frequent (30-79%)HP:0004466

Developmental regression

Frequent (30-79%)HP:0002376

EEG with persistent abnormal rhythmic activity

Frequent (30-79%)HP:0010846

Esotropia

Frequent (30-79%)HP:0000565

Frequent falls

Frequent (30-79%)HP:0002359

Functional motor deficit

Frequent (30-79%)HP:0004302

Gait disturbance

Frequent (30-79%)HP:0001288

Intellectual deterioration

Frequent (30-79%)HP:0001268

Loss of ambulation

Frequent (30-79%)HP:0002505

Loss of speech

Frequent (30-79%)HP:0002371

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Neuropathy

Frequent (30-79%)HP:0009830

No development of motor milestones

Frequent (30-79%)HP:0001270

Pyramidal tract dysfunction

Frequent (30-79%)HP:0002493

Spastic diparesis

Frequent (30-79%)HP:0001264

Spastic paraparesis

Frequent (30-79%)HP:0002313

Spasticity of lower limb

Frequent (30-79%)HP:0002061

Visual loss

Frequent (30-79%)HP:0000572

Acroparesthesia

Occasional (5-29%)HP:0031006

Ataxia

Occasional (5-29%)HP:0001251

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Related Conditions

Galactosylceramide beta-galactosidase deficiency(parent)

Quick Facts

SNOMED CT: 41142009
UMLS CUI: C0268252
Fully Specified Name: Globoid cell leukodystrophy, late-onset (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.