FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital variant of Rett syndrome ID (Ontology) DOID:0070657 (Human Disease)
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.
Also Known As "FOXG1 syndrome" ; "Rett syndrome, congenital variant"
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 Genes
 congenital variant of Rett syndrome       5
 for disease ribbon | congenital variant of Rett syndrome       5
 model of | congenital variant of Rett syndrome       5
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___________
developmental disorder of mental health  |
 |__pervasive developmental disorder_____|
central nervous system disease           |
 |__brain disease________________________|
                                         congenital variant of Rett syndrome  5 rec.
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Is a autosomal dominant disease
pervasive developmental disorder
brain disease
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Synonyms
  • "atypical Rett syndrome" RELATED
    "FOXG1 syndrome" EXACT
    "FOXG1-related encephalopathy" BROAD
    "Rett syndrome, congenital variant" EXACT
Secondary IDs
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GARD:12825
ICD10CM:Q04.8
MIM:613454
NCI:C176903
ORDO:561854
SNOMEDCT_US_2025_05_01:702450004
UMLS_CUI:C3150705