has material basis in germline mutation in disease has feature FOXG1 syndromic intellectual disability pervasive developmental disorder congenital nervous system disorder hereditary disease epilepsy monogenic epilepsy atypical Rett syndrome FOXG1 disorder 2018-06-29T19:29:48Z https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/7850 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/foxg1_syndrome https://www.malacards.org/card/foxg1_syndrome_due_to_intragenic_alteration https://www.malacards.org/card/rett_syndrome_congenital_variant OMIM:613454 MONDO:0100040 MEDGEN:462055 FOXG1 disorder DOID:0070657 A monogenic disease that has material basis in mutation in the FOXG1 gene. FOXG1 inherited genetic disease Orphanet:561854 FOXG1-related epileptic-dyskinetic encephalopathy inherited genetic disease caused by mutation in FOXG1 NCIT:C176903 GARD:0026022 Rett syndrome, congenital variant UMLS:C3150705 Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. (https://orcid.org/0000-0002-6733-369X) ICD10CM:F84.8 Orphanet:598164 FOXG1 syndrome due to intragenic alteration FOXG1 syndrome Mendelian neurodevelopmental disorder