FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Christianson syndrome ID (Ontology) DOID:0060825 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26.
Also Known As "Christianson type of X-linked syndromic intellectual developmental disorder" ; "mental retardation, microcephaly, epilepsy, and ataxia syndrome" ; "mental retardation, X-linked syndromic, Christianson type" (for all, see Synonyms field below)
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 Genes
 Christianson syndrome       1
 for disease ribbon | Christianson syndrome       1
 model of | Christianson syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked dominant disease___________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                Christianson syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked dominant disease
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Synonyms
  • "Christianson type of X-linked syndromic intellectual developmental disorder" EXACT
    "mental retardation, microcephaly, epilepsy, and ataxia syndrome" EXACT
    "mental retardation, X-linked syndromic, Christianson type" EXACT
    "MRXSCH" EXACT OMO:0003012
    "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
Secondary IDs
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GARD:10572
MESH:C537450
MIM:300243
ORDO:85278
UMLS_CUI:C1846130