Table 2. [FOLR1-Related Cerebral Folate Transport Deficiency:...]. - GeneReviews®

Signs	% of Persons w/Feature	Comment
Developmental delay / intellectual disability	Universal finding	Subtle changes may occur in the 1st year of life
Cognitive impairment	≥90%
Behavior issues	≥90%
Movement disorders	≥90%
Seizures	≥90%
Speech impairment	≥65%	Also language impairment; likely underreported
Changes of hypomyelination on MRI	≥90%

From: FOLR1-Related Cerebral Folate Transport Deficiency

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