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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Autosomal dominant keratitis
Morning glory syndrome

PAX6 PAX6


COMMON
GENES
PAX6



Citations in the biomedical literature:


Autosomal dominant keratitis
PAX6
Morning glory syndrome



Autosomal dominant keratitis
Morning glory syndrome

Synonym(s):
- Hereditary keratitis

Synonym(s):
- Ectasic coloboma
- Volubilis syndrome

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown

External references:
1 OMIM reference -
1 MeSH reference: C537022
External references:
1 OMIM reference -
No MeSH references

Morning glory syndrome

Very frequent
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Strabismus / squint
- Visual loss / blindness / amblyopia

Occasional
- Cataract / lens opacification
- Coloboma of the optic nerve
- Nystagmus
- Retinal detachment


Autosomal dominant keratitis

(no data available)