TELO2, telomere maintenance 2, 9894

N. diseases: 37; N. variants: 7
Disease: Seckel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		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