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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
Combined immunodeficiency due to STK4 deficiency

YWHAE STK4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.63)
STK4



Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Combined immunodeficiency due to STK4 deficiency
STK4



Distal 17p13.3 microdeletion syndrome
Combined immunodeficiency due to STK4 deficiency

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3

Synonym(s):
- CID due to STK4 deficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.