Conditions / Genetic
spermatogenic failure 54
info ยท Genetic
A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP
A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35.
Signs and symptoms
- Coiled sperm flagella
- Male infertility
- Tapered sperm head
- Reduced sperm motility
- Abnormal sperm axoneme morphology
- Short sperm flagella
- Oligozoospermia
- Cryptozoospermia
Also known as: SPGF54