Term Name: | congenital variant of Rett syndrome |
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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 ) |