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neurodegenerative syndrome due to cerebral folate transport deficiency

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Uniprot Description A neurodegenerative disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy and leukodystrophy.
Mondo Term and Equivalent IDs
MONDO:0013110:  neurodegenerative syndrome due to cerebral folate transport deficiency
GARD:0010594: 
MESH:C567791: 
Orphanet:217382: 
SCTID:711403001: