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Cardiomyopathy - hypotonia - lactic acidosis
1 OMIM reference -
1 associated gene
32 connected diseases
No signs/symptoms info
Disease Type of connection
Giant cell glioblastoma
Gliosarcoma
Intermittent hydrarthrosis
Leber congenital amaurosis
Senior-Loken syndrome
TRAPS syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Burkitt lymphoma
CLN3 disease
Coffin-Siris syndrome
Familial multiple meningioma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Huntington disease
Ichthyosis-hypotrichosis syndrome
Juvenile Huntington disease
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Young adult-onset Parkinsonism
Fatal infantile cytochrome C oxidase deficiency
Leigh syndrome with cardiomyopathy
Autosomal dominant optic atrophy and peripheral neuropathy
Autosomal recessive cutis laxa type 2, classic type
Autosomal recessive distal renal tubular acidosis with deafness
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive spastic paraplegia type 7
DDOST-CDG
Isolated NADH-CoQ reductase deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Wrinkly skin syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC25A3 Q00325600370
No signs/symptoms info available.