info icon

Microcephaly

Q17_MICROCEPHALY

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 Q02
  • Cause of death: ICD-10 Q02

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

24

4. Check minimum number of events

None

24

5. Include endpoints

None

24

6. Filter based on genotype QC (FinnGen only)

24

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_NERVOUS_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q0
Name in latin
Microcephalia

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 952 472 480
Only index persons 434 219 215
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population - 1.81 2.39
Only index persons 4.68 4.37 4.99

-FinnGen-

Key figures

All Female Male
Number of individuals 24 14 10
Unadjusted period prevalence (%) 0.00 0.00 0.00
Median age at first event (years) 4.54 6.57 1.70

-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.

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

No data available

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3007164) IgA [Mass/volume] in Serum or Plasma
15
110
1.96
0.86
1.7
1.8
g/l
1.6
1.4
—
8
58
(3007853) Bacteria identified in Skin by Aerobe culture
6
33
2.08
0.86
2.5
1.6
—
—
—
0
0
(40758558) Short blood count panel - Blood
14
98
2.03
0.82
4.6
10.2
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
18
143
2.03
0.73
5.8
3.2
pmol/l
15.1
14.6
0.34
18
135
(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma
6
35
1.95
0.64
2.5
3.0
u/l
103.5
147.5
—
6
35
(3002256) Pathology report gross observation
0
19
0.00
0.63
0.0
1.2
—
—
—
0
0
(3020961) Endomysium IgA Ab [Titer] in Serum
6
36
1.88
0.62
1.2
1.3
—
—
—
0
0
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
0
23
0.00
0.61
0.0
1.8
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
0
23
0.00
0.61
0.0
1.9
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
7
45
1.78
0.56
1.1
1.3
—
—
—
0
0
(3013707) Erythrocyte sedimentation rate by Westergren method
16
127
1.78
0.55
3.6
7.2
mm/h
6.9
9.0
0.80
16
121
(3044889) 12 lead EKG panel
5
76
0.57
0.45
1.4
2.2
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
0
15
0.00
0.43
0.0
4.6
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
0
15
0.00
0.43
0.0
2.1
—
—
—
0
0
(3044290) Cell count panel - Cerebral spinal fluid
0
16
0.00
0.43
0.0
5.7
—
—
—
0
0
(3000991) Gas panel - Venous blood
5
69
0.65
0.32
7.0
13.5
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
18
158
1.55
0.30
6.1
3.8
mu/l
2.3
2.2
0.20
18
149
(3005322) IgE [Units/volume] in Serum or Plasma
5
37
1.44
0.25
3.2
1.4
u/ml
5761.0
180.7
—
5
32
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
5
37
1.44
0.25
1.0
1.1
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
6
48
1.33
0.22
4.0
3.9
—
—
—
0
0
(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
0
11
0.00
0.22
0.0
3.3
—
5.5
—
0
11
(3011648) Oxygen content in Venous blood
0
11
0.00
0.22
0.0
44.0
—
10.6
—
0
11
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
11
0.00
0.22
0.0
1.5
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
0
11
0.00
0.22
0.0
1.4
—
—
—
0
0
(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay
0
11
0.00
0.22
0.0
2.0
—
—
—
0
0
(3010375) cycloSPORINE [Mass/volume] in Blood
0
10
0.00
0.22
0.0
31.4
—
168.9
—
0
10
(3023511) Choriogonadotropin [Units/volume] in Urine
0
10
0.00
0.22
0.0
1.6
—
—
—
0
0
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.22
0.0
1.6
—
—
—
0
0
(3016018) Differential panel - Cerebral spinal fluid
0
10
0.00
0.22
0.0
8.1
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
0
10
0.00
0.22
0.0
1.3
—
—
—
0
0
(3008757) Leukocyte morphology finding [Identifier] in Blood
0
12
0.00
0.22
0.0
3.9
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
12
0.00
0.22
0.0
1.5
—
—
—
0
0
(40761535) Cells panel - Urine sediment
0
12
0.00
0.22
0.0
4.0
—
—
—
0
0
(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum
0
12
0.00
0.22
0.0
2.1
—
—
—
0
0
(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma
0
12
0.00
0.22
0.0
4.4
—
283.2
—
0
12
(3022313) Gas panel - Capillary blood
10
82
1.38
0.21
7.7
13.6
—
—
—
0
0
(3003740) Influenza virus B Ag [Presence] in Specimen
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
(3007566) Smooth muscle Ab [Titer] in Serum
0
13
0.00
0.21
0.0
2.2
—
—
—
0
0
(3002523) Influenza virus A Ag [Presence] in Specimen
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
(3024928) Oxygen saturation in Venous blood
0
13
0.00
0.21
0.0
43.8
—
—
—
0
0
(3034770) Mitochondria Ab [Titer] in Serum
0
13
0.00
0.21
0.0
2.3
—
—
—
0
0
(3032773) Endomysium IgG Ab [Titer] in Serum
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(3019230) Fractional oxyhemoglobin in Venous blood
0
14
0.00
0.20
0.0
35.6
—
73.4
—
0
14
(3003694) ABO and Rh group [Type] in Blood
7
60
1.23
0.20
1.4
1.8
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
7
86
0.74
0.18
2.0
2.0
—
—
—
0
0
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
8
95
0.76
0.18
2.1
3.5
mmol/l
2.7
2.6
—
8
86
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
8
94
0.78
0.18
2.0
3.4
mmol/l
1.4
1.4
—
8
84
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
10
85
1.30
0.15
8.3
13.5
mmol/l
24.4
24.0
—
10
85
(3026008) Bacteria identified in Urine by Culture
5
44
1.17
0.11
1.4
4.0
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
5
60
0.79
0.09
3.2
4.1
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
7
63
1.16
0.09
2.6
4.4
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
7
66
1.09
0.09
3.6
7.4
—
—
—
0
0
(3015736) pH of Urine
8
75
1.10
0.09
3.1
4.3
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
9
84
1.11
0.08
3.8
4.7
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
13
123
1.12
0.02
3.9
5.3
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
10
94
1.11
0.01
3.7
5.1
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
14
134
1.11
0.01
5.0
16.1
—
—
—
0
0
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
10
98
1.03
0.00
2.1
2.7
mmol/l
5.4
5.3
—
10
90
(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3024932) HLA-DR beta [Type]
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3017115) Methotrexate [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
32.7
—
0.6
—
0
6
(3045414) Leukocytes [Presence] in Urine
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3016845) Adenovirus Ag [Presence] in Specimen by Immunofluorescence
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3024471) HLA-A [Type]
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
3.0
—
—
—
0
0
(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
2.2
—
215.7
—
0
6
(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3022229) Phosphate [Moles/volume] in Urine
0
6
0.00
0.00
0.0
4.0
—
14.0
—
0
6
(3012336) Haptoglobin [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
4.5
—
1.0
—
0
6
(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting
0
6
0.00
0.00
0.0
2.3
—
0.3
—
0
6
(3001788) Aldosterone [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
1767.2
—
0
6
(4034850)
0
6
0.00
0.00
0.0
7.0
—
—
—
0
0
(3032352) Blasts [#/volume] in Cerebral spinal fluid
0
6
0.00
0.00
0.0
4.3
—
—
—
0
0
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
9
96
0.90
0.00
2.0
3.7
mmol/l
4.1
4.3
—
9
89
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
6
67
0.86
0.00
2.0
2.2
—
—
—
0
0
(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3011985) Renin [Units/volume] in Plasma
0
5
0.00
0.00
0.0
1.8
—
1701.4
—
0
5
(3040151) Glucose [Moles/volume] in Capillary blood
0
9
0.00
0.00
0.0
1.7
—
5.4
—
0
9
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
(3016038) Potassium [Moles/volume] in Urine
0
7
0.00
0.00
0.0
2.0
—
33.0
—
0
7
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
5.0
—
4.6
—
0
5
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3022621) pH of Urine by Test strip
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
9
92
0.97
0.00
1.9
3.5
mmol/l
1.2
1.1
—
9
86
(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay
0
9
0.00
0.00
0.0
5.0
—
98.0
—
0
9
(3047181) Lactate [Moles/volume] in Blood
0
5
0.00
0.00
0.0
15.0
—
1.1
—
0
5
(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3014051) Protein [Presence] in Urine by Test strip
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(21494434) Karyotype in Bone marrow
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3029080) Hemoglobin [Entitic mass] in Reticulocytes
0
5
0.00
0.00
0.0
6.2
—
32.4
—
0
5
(3022493) Free Hemoglobin [Mass/volume] in Plasma
0
5
0.00
0.00
0.0
3.4
—
183.8
—
0
5
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3045142) Bone marrow Pathology biopsy report
0
9
0.00
0.00
0.0
2.1
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
9
93
0.95
0.00
12.1
23.1
mmol/l
24.9
24.3
—
9
93
(21494755) Public health laboratory ask at order entry panel
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
8
0.00
0.00
0.0
1.7
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
0
8
0.00
0.00
0.0
2.5
—
—
—
0
0
(3029634) Reagin Ab [Titer] in Serum by VDRL
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3020891) Body temperature
0
8
0.00
0.00
0.0
14.3
—
—
—
0
0
(3029493) Herpes virus 6 DNA [Presence] in Blood by NAA with probe detection
0
8
0.00
0.00
0.0
5.5
—
—
—
0
0
(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3003752) BK virus DNA [Units/volume] (viral load) in Urine by NAA with probe detection
0
5
0.00
0.00
0.0
4.6
—
—
—
0
0
(3051611) Lipemic interference index of Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
855.2
—
0
5
(3051651) Icteric interference index of Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
7
0.00
0.00
0.0
4.4
—
—
—
0
0
(3045781) Inhibin B [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
141.8
—
0
5
(3026250) Tacrolimus [Mass/volume] in Blood
0
5
0.00
0.00
0.0
67.6
—
6.3
—
0
5
(3018405) Lactate [Moles/volume] in Arterial blood
0
7
0.00
0.00
0.0
6.7
—
1.8
—
0
7
(3035933) Granulocytes/100 leukocytes in Blood
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3032390) JC virus DNA [#/volume] (viral load) in Urine by NAA with probe detection
0
5
0.00
0.00
0.0
4.6
—
—
—
0
0
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
8
85
0.91
0.00
5.1
3.6
mmol/mol
33.8
35.8
—
8
79
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
0
9
0.00
0.00
0.0
2.9
—
—
—
0
0
(3016914) Bacteria identified in Cerebral spinal fluid by Culture
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_MICROCEPHALY and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_MICROCEPHALY.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: Q17_MICROCEPHALY – Microcephaly

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
loading spinner Loading data