Christianson syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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. (Orphanet Rare Disease Ontology, Orphanet_85278)
External Link http://www.omim.org/entry/300243
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Genes

1 genes associated with the Christianson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6