Mutant gene

Mutation frequency

Related diseases

Genetic model

DNAH1

13

Primary ciliary dyskinesia, Spermatogenic failure

AR

DNAH9

5

Primary ciliary dyskinesia

AR

NME8

4

Primary ciliary dyskinesia

AR

DNAH5

1

Primary ciliary dyskinesia

AR

CCDC 40

1

Primary ciliary dyskinesia

AR

DNAI2

1

Primary ciliary dyskinesia

AR

FSIP2

4

Spermatogenesis disorder

AR

TEX15

4

Spermatogenesis disorder

AR

AK7

2

Spermatogenesis disorder

AR

USP9Y

1

Spermatogenesis disorder

YL

CFAP43

1

Spermatogenesis disorder

AR

SOHLH1

1

Spermatogenesis disorder

AD

KLHL10

1

Spermatogenesis disorder

AD

SUN5

1

Spermatogenesis disorder

AR

KAL1

1

Hypogonadotropic hypogonadism

XLR

TACR3

1

Hypogonadotropic hypogonadism

AR

POR

1

Cytochrome P450 oxidoreductase deficiency

AR

DPY19L2

2

Round-headed spermatozoa, Spermatogenesis disorder

AR

AZFc deletion

1

Azoospermia or oligospermia