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).
