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Metadata
ID DOID:0110001
Name 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Definition A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.
https://www.ncbi.nlm.nih.gov/pubmed/22683713
Xrefs

OMIM:614739

ORDO:352328

Synonyms

3-methylglutaconic aciduria type 6 [EXACT]

MEGDEL [EXACT]

MEGDEL syndrome [EXACT]

MGCA6 [EXACT]

Parent Relationships

is_a 3-methylglutaconic aciduria

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