GM1 gangliosidosis type 2

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GM1 gangliosidosis type 2

ORPHA:79256Clinical subtype

Also called Juvenile GM1 gangliosidosis · Late-infantile GM1 gangliosidosis

What it is

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.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Childhood
Inheritance
Autosomal recessive
Classified as
Clinical subtype

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

GLB1Disease-causing germline mutation(s)

ICD-10 codes

E75.1filed under a broader ICD-10 category — shared with 4 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10126MONDO 0009261OMIM 230600UMLS C0268272

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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