PUS7, pseudouridine synthase 7, 54517

N. diseases: 26; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.410 GeneticVariation disease BEFREE We describe two families in which two different homozygous PUS7 mutations (missense and frameshift deletion) segregate with a phenotype comprising intellectual disability and progressive microcephaly. 30778726 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.410 Biomarker disease GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.410 Biomarker disease HPO