Term Name: | syndromic X-linked intellectual developmental disorder bain type |
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Synonyms: | HNRNPH2-related neurodevelopmental disorder, HNRNPH2-RNDD, Mental Retardation, X-linked, Syndrome, Bain Type, MRXSB |
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. |
Ontology: | Human Disease [DOID:0070538] ( DOID:0070538 ) |