RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. 29883675 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. 30121372 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. 29967526 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease HPO