Temtamy syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. (Orphanet Rare Disease Ontology, Orphanet_1777)
External Link http://www.omim.org/entry/218340
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Genes

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

Symbol Name
C12ORF57 chromosome 12 open reading frame 57