RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 GeneticVariation disease BEFREE A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. 29356416 2018