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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Cockayne syndrome type 2
Mandibular hypoplasia-deafness-progeroid syndrome

ERCC1 POLD1
ERCC6
ERCC8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ERCC6
(0.63)
POLD1



Citations in the biomedical literature:


Cockayne syndrome type 2
ERCC1 ERCC6 ERCC8
Mandibular hypoplasia-deafness-progeroid syndrome
POLD1



Cockayne syndrome type 2
Mandibular hypoplasia-deafness-progeroid syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- MDP syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.