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This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

GM2 gangliosidosis

E4_GM2GANGLIO

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E75.0
  • Cause of death: ICD-10 E75.0

2 out of 7 registries used, show all original rules.

8

4. Check minimum number of events

None

8

5. Include endpoints

None

8

6. Filter based on genotype QC (FinnGen only)

8

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E75
Name in latin Gangliosidosis GM2

Case counts by codes

FinnGen case counts by registry codes:

Not enough data for upset plot.

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 97 54 43
Only index persons 79 44 35
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population - 58.29 50.07
Only index persons 54.97 58.87 50.07

-FinnGen-

Key figures

All Female Male
Number of individuals 8 5 -
Unadjusted period prevalence (%) 0.00 0.00 -
Median age at first event (years) 61.17 59.29 -

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

Mortality – FinRegistry

Relationships between endpoints

Index endpoint: E4_GM2GANGLIO – GM2 gangliosidosis

GWS hits: -

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