Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness-Infertility Syndrome
infertility due to extratesticular cause
Laterality Defects, Autosomal Dominant
Left-Right Axis Malformations
Male Sterility due to Y-Chromosome Deletions
oligospermia +
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome
Polyasplenia
right atrial isomerism
Sertoli cell-only syndrome +
situs inversus +
spermatogenic failure +
Teratozoospermia +
Visceral Heterotaxy 10, Autosomal
Characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Caused by homozygous mutation in the CFAP52 gene on chromosome 17p13.
Visceral Heterotaxy 11, Autosomal
Visceral Heterotaxy 12, Autosomal
Visceral Heterotaxy 2, Autosomal
Visceral Heterotaxy 3, Autosomal
Visceral Heterotaxy 4, Autosomal
Visceral Heterotaxy 5, Autosomal
Visceral Heterotaxy 6, Autosomal
Visceral Heterotaxy 7, Autosomal
Visceral Heterotaxy 8, Autosomal
Visceral Heterotaxy 9, Autosomal
Visceroatrial Heterotaxy, Autosomal Recessive
Synonyms
Exact Synonyms:
HTX10
;
autosomal visceral heterotaxy 10 with male infertility