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Disease Ontology Browser
congenital variant of Rett syndrome (DOID:0070657)
Alliance: disease page
Synonyms: atypical Rett syndrome; FOXG1 syndrome; FOXG1-related encephalopathy; Rett syndrome, congenital variant
Alt IDs: OMIM:613454, ICD10CM:Q04.8, NCI:C176903, ORDO:561854, UMLS_CUI:C3150705
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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09/30/2025
MGI 6.24 		The Jackson Laboratory