ODCs

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

COMMON GENES: 1

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

Hereditary cryohydrocytosis with reduced stomatin

Encephalopathy due to GLUT1 deficiency

Citations in the biomedical literature:

Hereditary cryohydrocytosis with reduced stomatin		Encephalopathy due to GLUT1 deficiency
	Synonym(s): - CHC type 2 - Hereditary cryohydrocytosis type 2 - Stomatin-deficient cryohydrocytosis - sdCHC		Synonym(s): - De Vivo disease - Glucose transporter type 1 deficiency - Glut-1 deficiency Syndrome - Glut1-DS

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

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

No signs/symptoms info available.