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3 OMIM references -
4 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Stargardt disease
Congenital ichthyosis - intellectual deficit - spastic quadriplegia

ABCA4 ELOVL4
CNGB3
ELOVL4
PROM1


COMMON
GENES
ELOVL4



Citations in the biomedical literature:


Stargardt disease
ABCA4 CNGB3 ELOVL4 PROM1
Congenital ichthyosis - intellectual deficit - spastic quadriplegia



Stargardt disease
Congenital ichthyosis - intellectual deficit - spastic quadriplegia

Synonym(s):
- Fundus flavimaculatus
- Macular dystrophy with flecks

Synonym(s):
- Congenital ichthyosis - intellectual deficit - spastic tetraplegia

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.