/neurodegenerative syndrome due to cerebral folate transport deficiency

neurodegenerative syndrome due to cerebral folate transport deficiency

Rare Disease

MONDO:0013110

Also Known As

cerebral folate receptor alpha deficiencyneurodegenerative syndrome due to cerebral folate transport deficiencycerebral folate deficiency syndromecerebral folate transport deficiencyneurodegeneration due to cerebral folate TRANSPORT deficiency

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Associated Genes

FOLR1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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MONDO:0010188

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constitutional megaloblastic anemia with severe neurologic disease

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neurodegenerative syndrome due to cerebral folate transport deficiency

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases