UniProtKB/Swiss-Prot

Rett syndrome congenital variant: A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, mental retardation, psychomotor regression and stereotypical movements.

MalaCards based summary

Rett Syndrome, Congenital Variant, is also known as rett syndrome congenital variant, and has symptoms including constipation, seizures and athetosis. An important gene associated with Rett Syndrome, Congenital Variant is FOXG1 (Forkhead Box G1). Affiliated tissues include eye and tongue.

OMIM

The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (300005). (613454)