Mutations in FOXG1 can result in a variant Rett syndrome.

Chromosome: 14q12

Gene: FOXG1 (forkhead box G1)


Inheritance: autosomal dominant or de novo


Onset: during early infancy


Clinical features:

(1) microcephaly

(2) severe mental retardation without regression

(3) dyskinesia with midline stereotypic activities

(4) hypotonia/floppy, with difficulty sitting

(5) variable seizures


The diagnosis may be suspected by changes seen in a brain MRI (corpus callosum hypogenesis).

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