Neurology · Neurology / Pediatric neurology; Metabolic disease
Cerebral folate deficiency syndrome
also: CFD
Low CSF 5-methyltetrahydrofolate with neurologic disease.
- Specialty
- Neurology
- Subspecialty
- Neurology / Pediatric neurology; Metabolic disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infantile-onset after 4–6 months
- Gene(s) involved
- FOLR1
- Alternative names & eponyms
- CFD
Etiology & mechanism
FOLR1 mutation or autoantibodies to folate receptor alpha.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Cerebral folate deficiency syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Angelman syndrome
ataxia, microcephaly, seizures
3 shared
Leigh syndrome
ataxia, developmental regression, hypotonia
3 shared
Menkes syndrome
developmental regression, hypotonia, seizures
2 shared
Action myoclonus–renal failure syndrome
ataxia, seizures
2 shared
Cohen syndrome
hypotonia, microcephaly
2 shared
Congenital Zika syndrome
microcephaly, seizures
2 shared
Cri du chat syndrome
hypotonia, microcephaly
2 shared
Crigler–Najjar syndrome
hypotonia, seizures
2 shared
Dravet syndrome
ataxia, developmental regression
2 shared
EAST syndrome
ataxia, seizures
Shares genes with
None.
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