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syndromic X-linked intellectual developmental disorder bain type (DOID:0070538)
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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)
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11/12/2024
MGI 6.24 		The Jackson Laboratory