Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
syndromic X-linked intellectual developmental disorder bain type
Summary
- Synonym
-
- HNRNPH2-RNDD
- HNRNPH2-related neurodevelopmental disorder
- MRXSB
- Mental Retardation, X-linked, Syndrome, Bain Type
- 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0070538
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
