IMMUNODEFICIENCY 23

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 23
OrphanetNr:
OMIM Id: 615816
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000793) Membranoproliferative glomerulonephritis rare [HPO:skoehler] 8 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0003193) Allergic rhinitis 6 / 7739
4
 (HPO:0000405) Conductive hearing impairment 164 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0100543) Cognitive impairment 230 / 7739
10
 (HPO:0003474) Sensory impairment 54 / 7739
11
 (HPO:0001260) Dysarthria 329 / 7739
12
 (HPO:0002650) Scoliosis 705 / 7739
13
 (HPO:0000964) Eczema 81 / 7739
14
 (HPO:0200029) Vasculitis in the skin 6 / 7739
15
 (HPO:0001875) Neutropenia 83 / 7739
16
 (HPO:0001878) Hemolytic anemia rare [HPO:skoehler] 83 / 7739
17
 (HPO:0001888) Lymphopenia 43 / 7739
18
 (HPO:0002110) Bronchiectasis 73 / 7739
19
 (HPO:0002099) Asthma 62 / 7739
20
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
21
 (HPO:0002721) Immunodeficiency 97 / 7739
22
 (HPO:0001252) Muscular hypotonia 990 / 7739
23
 (HPO:0040148) Cortical myoclonus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: