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5 OMIM references -
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Achromatopsia
Distal 17p13.3 microdeletion syndrome

CNGA3 YWHAE
CNGB3
GNAT2
PDE6C
PDE6H
RPGR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RPGR
(0.52)
YWHAE



Citations in the biomedical literature:


Achromatopsia
CNGA3 CNGB3 GNAT2 PDE6C PDE6H RPGR

Distal 17p13.3 microdeletion syndrome
YWHAE



Achromatopsia
Distal 17p13.3 microdeletion syndrome

Synonym(s):
- ACHM
- Complete or incomplete color blindness
- Pingelapese blindness
- Rod monochromacy
- Rod monochromatism
- Total color blindness

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

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

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.