| Metadata | |
|---|---|
| ID | DOID:0070538 |
| Name | syndromic X-linked intellectual developmental disorder bain type |
| Definition | A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. https://pubmed.ncbi.nlm.nih.gov/27545675/, https://pubmed.ncbi.nlm.nih.gov/37372334/, https://www.ncbi.nlm.nih.gov/books/NBK584018/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
HNRNPH2-related neurodevelopmental disorder [EXACT] HNRNPH2-RNDD [EXACT] Mental Retardation, X-linked, Syndrome, Bain Type [EXACT] MRXSB [EXACT] |
| Parent Relationships |