About   Help   FAQ
Disease Ontology Browser
syndromic X-linked intellectual developmental disorder bain type (DOID:0070538)
Alliance: disease page
Synonyms: HNRNPH2-related neurodevelopmental disorder; HNRNPH2-RNDD; Mental Retardation, X-linked, Syndrome, Bain Type; MRXSB
Alt IDs: OMIM:300986, NCI:C183311, UMLS_CUI:C4310814
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory