GM1 gangliosidosis type 2
Findings
No curated finding names GM1 gangliosidosis type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.
Definition from the Mondo Disease Ontology (MONDO:0009261), read 2026-09-29. CC BY 4.0.
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Beaking of vertebral bodiesHPOHP:0004568
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- Decreased beta-galactosidase activityHPOHP:0008166
- 1 of 1 reported patient
- Dysostosis multiplexHPOHP:0000943
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Flat faceHPOHP:0012368
Show the remaining 11
- Joint stiffnessHPOHP:0001387
- 1 of 1 reported patient
- Limb undergrowthHPOHP:0009826
- 1 of 1 reported patient
- Motor regressionHPOHP:0033044
- 1 of 1 reported patient
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- Patent ductus arteriosusHPOHP:0001643
- 1 of 1 reported patient
- Premature birthHPOHP:0001622
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GLB1HGNC:4298
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: GM1 gangliosidosis type 2
- Also called
- juvenile GM1 gangliosidosislate-infantile GM1 gangliosidosis