RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
Disease: Malformations of Cortical Development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.010 GeneticVariation disease BEFREE Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. 29883675 2018