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
Christianson syndrome
Summary
- Synonym
-
- MRXSCH
- X-linked Angelman-like syndrome
- X-linked intellectual disability, South African type
- X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
- mental retardation, X-linked syndromic, Christianson type
- mental retardation, microcephaly, epilepsy, and ataxia syndrome
- Definition
- A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26.
- Super Class
- X-linked dominant disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060825
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
