Galactocerebroside beta-galactosidase deficiency - early onset

disorder

SNOMED 238030005CUI C0751273

Overview

Galactocerebroside beta-galactosidase deficiency - early onset 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 circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Abnormal visual evoked responses

Very frequent (80-99%)HP:0000649

Elevated csf protein

Very frequent (80-99%)HP:0002922

Frequently cries for no reason

Very frequent (80-99%)HP:0030215

Functional motor deficit

Very frequent (80-99%)HP:0004302

Hyperpyrexia

Very frequent (80-99%)HP:0033031

Intellectual deterioration

Very frequent (80-99%)HP:0001268

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Irritability

Very frequent (80-99%)HP:0000737

Nerve damage causing decreased feeling and movement

Very frequent (80-99%)HP:0007141

Reduced leukocyte galactocerebrosidase activity

Very frequent (80-99%)HP:0034322

Unexplained fevers

Very frequent (80-99%)HP:0001955

Worsening neurological symptoms

Very frequent (80-99%)HP:0002344

Abnormality of the periventricular white matter

Frequent (30-79%)HP:0002518

Decreased nerve conduction velocity

Frequent (30-79%)HP:0000762

Delayed brainstem auditory evoked response conduction time

Frequent (30-79%)HP:0004466

Elevated brain choline level by MRS

Frequent (30-79%)HP:0012706

Feeding difficulties

Frequent (30-79%)HP:0011968

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Poor weight gain

Frequent (30-79%)HP:0001508

Psychomotor deterioration

Frequent (30-79%)HP:0002361

Reduced brain glutamate level by MRS

Frequent (30-79%)HP:0031161

Reduced brain N-acetyl aspartate level by MRS

Frequent (30-79%)HP:0012708

Spasticity of lower limb

Frequent (30-79%)HP:0002061

Thumb clasp

Frequent (30-79%)HP:0001188

Truncal hypotonia

Frequent (30-79%)HP:0008936

Abnormal heart rate variability

Occasional (5-29%)HP:0031860

Ankle clonus

Occasional (5-29%)HP:0011448

Arc de cercle

Occasional (5-29%)HP:0002179

Cachexia

Occasional (5-29%)HP:0004326

Related Conditions

Galactosylceramide beta-galactosidase deficiency(parent)

Quick Facts

SNOMED CT: 238030005
UMLS CUI: C0751273
Fully Specified Name: Galactocerebroside beta-galactosidase deficiency - early 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.