RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
Disease: Dermatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 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