rs138249161, POLR3B

N. diseases: 8
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
0.710 GeneticVariation BEFREE We report on the clinical, neuroradiological and endocrinological follow-up of a male affected by 4H syndrome with confirmed POLR3B mutations (c.1568 T > A/p.V523E variant in exon 15 and the novel c.1988C > T/p.T663I mutation in exon 19). 26204956 2015
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
0.710 CausalMutation CLINVAR