Term Name: congenital variant of Rett syndrome
Synonyms: atypical Rett syndrome, FOXG1 syndrome, FOXG1-related encephalopathy, Rett syndrome, congenital variant
Definition: 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.
Ontology: Human Disease [DOID:0070657]   ( DOID:0070657 )

Relationships
is a type of: autosomal dominant disease brain disease pervasive developmental disorder