ODCs

Click node...

3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Rare isolated myopia

Dopa-responsive dystonia due to sepiapterin reductase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SCO2	(0.49)	SPR

Citations in the biomedical literature:

Rare isolated myopia		Dopa-responsive dystonia due to sepiapterin reductase deficiency
	Synonym(s): (no synonyms)		Synonym(s): - Autosomal recessive sepiapterin reductase-deficient DRD - DRD autosomique rÃ©cessive par dÃ©ficit en sÃ©piaptÃ©rine rÃ©ductase - DRD due to SRD - SPR deficiency - Sepiapterin reductase deficiency

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

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