| Metadata | |
|---|---|
| ID | DOID:0060825 |
| Name | Christianson 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. https://www.ncbi.nlm.nih.gov/pubmed/18342287, https://www.ncbi.nlm.nih.gov/pubmed/20949524, https://www.ncbi.nlm.nih.gov/pubmed/25044251 |
| Xrefs | |
| SKOS |
exactMatch MESH:C537450 broadMatch MESH:C567484 |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation, microcephaly, epilepsy, and ataxia syndrome [EXACT] mental retardation, X-linked syndromic, Christianson type [EXACT] MRXSCH [EXACT] X-linked Angelman-like syndrome [EXACT] X-linked intellectual disability, South African type [EXACT] X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |