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1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Ocular albinism with congenital sensorineural deafness
Temperature-sensitive oculocutaneous albinism type 1

MITF TYR
TYR


COMMON
GENES
TYR



Citations in the biomedical literature:


Ocular albinism with congenital sensorineural deafness
MITF TYR
Temperature-sensitive oculocutaneous albinism type 1



Ocular albinism with congenital sensorineural deafness
Temperature-sensitive oculocutaneous albinism type 1

Synonym(s):
- Waardenburg syndrome type 2 with ocular albinism

Synonym(s):
- OCA1-TS
- TS OCA type 1

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.