Search Ontology:
Human Disease

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
  • MIM:300986
  • NCI:C183311
  • UMLS_CUI:C4310814
Ontology
Human Disease   ( DOID:0070538 )
Relationships
is a type of
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Genes Involved
Zebrafish Models