RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
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 		0.020 GeneticVariation disease BEFREE We found a novel homozygous mutation in RTTN associated with microcephalic PD as well as complex brain malformations and congenital dermatitis, thus expanding the phenotypic spectrum of both RTTN-associated diseases and ciliary dysfunction. 26940245 2016
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.020 GeneticVariation disease BEFREE Our results expand the phenotype of RTTN-related disorders, hitherto limited to polymicrogyria, to include microcephalic primordial dwarfism with a complex brain phenotype involving simplified gyration. 26608784 2015