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homocystinuria due to methylene tetrahydrofolate reductase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
Uniprot Description Autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia [MIM:603174], developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders.
Mondo Term and Equivalent IDs
MONDO:0009353:  homocystinuria due to methylene tetrahydrofolate reductase deficiency
GARD:0002734: 
MESH:C537357: 
Orphanet:395: 
SCTID:41797007: