Infantile gangliosidosis with bony involvement

disorder

SNOMED 238026007CUI C0268271

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.

Decreased beta-galactosidase activity

Always present (100%)HP:0008166

Thickened facial skin with coarse facial features

Always present (100%)HP:0000280

Brain and/or spinal cord issue

Very frequent (80-99%)HP:0000707

Developmental regression

Very frequent (80-99%)HP:0002376

Enlarged liver

Very frequent (80-99%)HP:0002240

Funny looking face

Very frequent (80-99%)HP:0001999

Hepatosplenomegaly

Very frequent (80-99%)HP:0001433

Hypoacusis

Very frequent (80-99%)HP:0000365

Hypotonia, early

Very frequent (80-99%)HP:0008947

Increased urinary galactosylated oligosaccharide

Very frequent (80-99%)HP:0410346

Large spleen

Very frequent (80-99%)HP:0001744

Legal blindness

Very frequent (80-99%)HP:0000618

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Skeletal anomalies

Very frequent (80-99%)HP:0000924

Urinary glycosaminoglycan excretion

Very frequent (80-99%)HP:0003541

Abnormal skeletal development

Frequent (30-79%)HP:0002652

Aspiration pneumonia

Frequent (30-79%)HP:0011951

Diffuse cerebral atrophy

Frequent (30-79%)HP:0002506

Diffuse white matter abnormalities

Frequent (30-79%)HP:0007204

Disease of the heart muscle

Frequent (30-79%)HP:0001638

Dysostosis multiplex

Frequent (30-79%)HP:0000943

Exaggerated acoustic startle response

Frequent (30-79%)HP:0002267

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Macular cherry red spot

Frequent (30-79%)HP:0010729

T2 hypointense basal ganglia

Frequent (30-79%)HP:0012753

Abnormality of odontoid tissue

Occasional (5-29%)HP:3000050

Abnormality of the placenta

Occasional (5-29%)HP:0100767

Acetabular dysplasia

Occasional (5-29%)HP:0008807

Related Conditions

GM1 gangliosidosis(parent)

Quick Facts

SNOMED CT: 238026007
UMLS CUI: C0268271
Fully Specified Name: Infantile GM1 gangliosidosis (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.