syndromic X-linked intellectual developmental disorder bain type

Term ID

DOID:0070538

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. (3)

References

• GARD:13442
• NCI:C183311
• OMIM:300986
• UMLS_CUI:C4310814

Ontology

Human Disease   ( DOID:0070538 )