DO_rare_slim NCIthesaurus has material basis in disease has location autosomal dominant disease pervasive developmental disorder congenital variant of Rett syndrome MIM:613454 NCI:C176903 ICD10CM:QA0.0151 MIM:613454 ORDO:561854 SNOMEDCT_US_2025_09_01:702450004 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. FOXG1 syndrome GARD:12825 UMLS_CUI:C3150705 ICD10CM:Q04.8 disease_ontology DOID:0070657 NCI:C176903 FOXG1-related encephalopathy GARD:12825 UMLS_CUI:C3150705 ORDO:561854 Rett syndrome, congenital variant atypical Rett syndrome brain disease autosomal dominant inheritance brain