Christianson syndrome

Term ID

DOID:0060825

Synonyms

• Christianson type of X-linked syndromic intellectual developmental disorder
• mental retardation, microcephaly, epilepsy, and ataxia syndrome
• mental retardation, X-linked syndromic, Christianson type
• MRXSCH
• X-linked Angelman-like syndrome
• X-linked intellectual disability, South African type
• X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome

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. (3)

References

• GARD:10572
• MESH:C537450
• MIM:300243
• ORDO:85278
• UMLS_CUI:C1846130

Ontology

Human Disease   ( DOID:0060825 )