Condition: Abnormal posture


rs63750687 in PSEN1 gene and Abnormal posture PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs139455627 in TSPEAR gene and Abnormal posture PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Abnormal posture PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs748787734 in TUBB4A gene and Abnormal posture PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.