| Metadata | |
|---|---|
| ID | DOID:0070657 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070657 Copy |
| Name | congenital variant of Rett syndrome |
| 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC5522617/, https://pmc.ncbi.nlm.nih.gov/articles/PMC6747066/, https://pubmed.ncbi.nlm.nih.gov/28661489/, https://www.ncbi.nlm.nih.gov/books/NBK604176/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:702450004 |
| SKOS |
exactMatch GARD:12825 exactMatch MIM:613454 exactMatch NCI:C176903 exactMatch ORDO:561854 exactMatch UMLS_CUI:C3150705 broadMatch ICD10CM:Q04.8 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
atypical Rett syndrome [RELATED] FOXG1 syndrome [EXACT] FOXG1-related encephalopathy [BROAD] Rett syndrome, congenital variant [EXACT] |
| Parent Relationships |
is_a brain disease |