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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 18-09-2009 |
Symbol | CFLTD |
Location | 11q13.4 |
Name | cerebral folate transport defect |
Other name(s) | neurodegeneration due to cerebral folate transport deficiency |
Corresponding gene | FOLR1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/organic acid |
Type | disease |
Remark(s) |