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Christianson syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.
Uniprot Description A syndrome characterized by profound mental retardation, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with Angelman syndrome.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0010278:  Christianson syndrome
GARD:0010572: 
MESH:C567484: 
Orphanet:85278: 
SCTID:702354007: 
UMLS:C2678194: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)