Encephalopathy due to sulfite oxidase deficiency

rare

Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.

Identifiers: MONDO:0019358 Orphanet:833
Part of: Developmental anomaly of metabolic origin Inborn disorder of methionine cycle and sulfur amino acid metabolism Lens disorder

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Sulfite oxidase deficiency due to molybdenum cofactor deficiency	MONDO:0020480	4
Isolated sulfite oxidase deficiency	MONDO:0010089		SUOX

Rare disease

Projects

Including projects on subtypes.

No projects yet.