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Metadata
DOID 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
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]

Xrefs

GARD:10572

MESH:C537450

MESH:C567484

OMIM:300243

ORDO:85278

UMLS_CUI:C1846130

Relationships

is_a syndromic X-linked intellectual disability

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