congenital variant of Rett syndrome

A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous m

A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1.

Signs and symptoms

• Hypotonia
• Generalized hypotonia
• Delayed ability to sit
• Progressive microcephaly
• Absent speech
• Global developmental delay
• Focal-onset seizure
• Severe intellectual disability
• Delayed speech and language development
• Delayed ability to walk

Also known as: FOXG1 syndrome; Rett syndrome, congenital variant