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DO Term : syndromic X-linked intellectual developmental disorder bain type [DOID:0070538] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • HNRNPH2-RNDD,
  • MRXSB,
  • GARD:13442,
  • OMIM:300986,
  • HNRNPH2-related neurodevelopmental disorder,
  • UMLS_CUI:C4310814,
  • NCI:C183311,
  • Mental Retardation, X-linked, Syndrome, Bain Type,
  • 300986
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