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Profound mental retardation

DOID EFO Endpoint Browser

F5_PRORET

mental retardation: ['Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)']

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Endpoint definition

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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 — F73
  • Hospital discharge: ICD-9 — 3182
  • Hospital discharge: ICD-8 — 314
  • Cause of death: ICD-10 — F73
  • Cause of death: ICD-9 — 3182
  • Cause of death: ICD-8 — 314

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

34

4. Check minimum number of events

None

34

5. Include endpoints

None

34

6. Filter based on genotype QC (FinnGen only)

33

Control definitions (FinnGen only)

Control exclude F5_MENTRET

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 F70-F79
Name in latin Retardatio mentalis profunda

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3013 1422 1589
Only index persons 2026 948 1078
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.04
Only index persons 0.04 0.03 0.04
Median age at first event (years)
Whole population 23.23 24.05 22.46
Only index persons 24.02 25.08 23.09

-FinnGen-

Key figures

All Female Male
Number of individuals 33 20 13
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 23.42 30.73 12.18

-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

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Relationships between endpoints

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Index endpoint: F5_PRORET – Profound mental retardation

GWS hits: -

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