Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9894
Gene Symbol: TELO2
TELO2
0.010 GeneticVariation disease BEFREE This report of Danish siblings with YHFS serves to expand the presentation of this new syndrome to include features in keeping with a form of microcephalic primordial dwarfism on the severe end of the clinical spectrum, and adds two novel mutations to the <i>TELO2</i> mutational spectrum. 28944240 2017