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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 3
1 OMIM reference -
4 associated genes
No signs/symptoms info
Nijmegen breakage syndrome-like disorder
Constitutional mismatch repair deficiency syndrome

RAD50 MLH1
MSH2
MSH6
PMS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RAD50
RAD50
RAD50
(0.55)
(0.55)
(0.55)
MLH1
MSH2
MSH6



Citations in the biomedical literature:


Nijmegen breakage syndrome-like disorder
RAD50
Constitutional mismatch repair deficiency syndrome
MLH1 MSH2 MSH6 PMS2



Nijmegen breakage syndrome-like disorder
Constitutional mismatch repair deficiency syndrome

Synonym(s):
- Microcephaly and chromosomal instability without immunodeficiency
- NBS-like disorder
- NBSLD
- RAD50 deficiency

Synonym(s):
- CMMR-D syndrome

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

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

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

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

No signs/symptoms info available.