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Male infertility due to large-headed multiflagellar polyploid spermatozoa

ORPHA:137893Clinical subtypeAutosomal recessive

Ассоциированные гены (8)

AURKC
aurora kinase C
Disease-causing germline mutation(s) (loss of function) in
OMIM: 603495
DNHD1
dynein heavy chain domain 1
Disease-causing germline mutation(s) in
OMIM: 617277
CFAP47
cilia and flagella associated protein 47
Disease-causing germline mutation(s) in
OMIM: 301057
DNAH10
dynein axonemal heavy chain 10
Disease-causing germline mutation(s) in
OMIM: 605884
AKAP3
A-kinase anchoring protein 3
Disease-causing germline mutation(s) (loss of function) in
OMIM: 604689
CFAP61
cilia and flagella associated protein 61
Disease-causing germline mutation(s) in
OMIM: 620381
ARMC12
armadillo repeat containing 12
Disease-causing germline mutation(s) (loss of function) in
OMIM: 620377
IFT74
intraflagellar transport 74
Disease-causing germline mutation(s) in
OMIM: 608040

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы