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FOXG1 disorder

http://purl.obolibrary.org/obo/MONDO_0100040

A monogenic disease that has material basis in mutation in the FOXG1 gene.

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Term info

Label

FOXG1 disorder

Synonyms

FOXG1 disorder
FOXG1 inherited genetic disease
inherited genetic disease caused by mutation in FOXG1

comment

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.

creator

https://orcid.org/0000-0001-5208-3432

date

2018-06-29T19:29:48Z

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015653

MONDO:0100040

Term relations

Subclass of:

syndromic intellectual disability
genetic nervous system disorder
monogenic epilepsy
pervasive developmental disorder
disease has feature some epilepsy