congenital variant of Rett syndrome

Term ID

DOID:0070657

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. (4)

References

• GARD:12825
• ICD10CM:Q04.8
• MIM:613454
• NCI:C176903
• ORDO:561854
• SNOMEDCT_US_2025_05_01:702450004
• UMLS_CUI:C3150705

Ontology

Human Disease   ( DOID:0070657 )