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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
5 OMIM references -
6 associated genes
No signs/symptoms info
Primary ciliary dyskinesia - retinitis pigmentosa
Achromatopsia

RPGR CNGA3
CNGB3
GNAT2
PDE6C
PDE6H
RPGR


COMMON
GENES
RPGR



Citations in the biomedical literature:


Primary ciliary dyskinesia - retinitis pigmentosa
RPGR
Achromatopsia
CNGA3 CNGB3 GNAT2 PDE6C PDE6H



Primary ciliary dyskinesia - retinitis pigmentosa
Achromatopsia

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.