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Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Hereditary cryohydrocytosis with reduced stomatin
1 OMIM reference -
1 associated gene
No signs/symptoms info
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Hereditary cryohydrocytosis with reduced stomatin

SLC2A1
(UniProt - OMIM)
 SLC2A1
(UniProt - OMIM)

COMMON
GENES 		SLC2A1


Citations in the biomedical literature:


Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
SLC2A1
Hereditary cryohydrocytosis with reduced stomatin



Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Hereditary cryohydrocytosis with reduced stomatin

Synonym(s):
- DYT9
- Episodic choreoathetosis/spasticity
Synonym(s):
- CHC type 2
- Hereditary cryohydrocytosis type 2
- Stomatin-deficient cryohydrocytosis
- sdCHC
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.