Gene

DNAH1

Pathology

Infertility

SANGER

Gene

PRKG1

Pathology

Aortic aneurysm

SANGER

Gene

PMM2

Pathology

Juvenile hemorrhagic stroke

SANGER

Gene

PLIN1

Pathology

Lipodistrophy

SANGER

Gene

POR

Pathology

Infertility

SANGER

Gene

ELN

Pathology

Cutis laxa, autosomal dominant, Supravalvar aortic stenosis

SANGER

Gene

TEX11

Pathology

Infertility

SANGER

Gene

ZPBP

Pathology

Infertility

SANGER

Gene

SOHLH1

Pathology

Infertility

SANGER

Gene

GLI2

Pathology

Infertility

SANGER

Gene

USP9Y

Pathology

Infertility

SANGER

Gene

NR5A1

Pathology

Infertility

SANGER

Gene

KLHL10

Pathology

Infertility

SANGER

Gene

MYO1A

Pathology

Deafness

SANGER

Gene

DYSF

Pathology

Muscular dystrophy, Myopathy

SANGER

Gene

MEIOB

Pathology

Infertility

SANGER

Gene

DNAH11

Pathology

Infertility

SANGER

Gene

HDAC8

Pathology

Genetic obesity

SANGER

Gene

GUCY1A1

Pathology

Hemorrhagic stroke

SANGER

Gene

THRB

Pathology

Resistance to thyroid hormones

SANGER