Male infertility with azoospermia or oligozoospermia due to single gene mutation

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Name:	Male infertility with azoospermia or oligozoospermia due to single gene mutation
Description:	A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.
ORPHAcode:	399805
XREF(s):	Orphanet OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM ICD-10 OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM
Analyte(s):	SPAG17 TEX14 TDRD9 NANOS1 FANCM TEX15 CT55 RPL10L CATIP RNF212 TERB1 TERB2 MOV10L1 FBXO43 RPL10L SHOC1 PNLDC1 DNAH10 STAG3 CFTR NR5A1 TAF4B ZMYND15 TEX11 SYCP3 SOHLH1 XRCC2 SYCE1 MEIOB C14ORF39 KLHL10 CCDC34 PDHA2 DNHD1 MSH5
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

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Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AFF2	100.00	0
AMH	75.52	0
AMHR2	100.00	0
BMP15	100.00	0
DACH2	99.75	0
DAZL	100.00	0
DIAPH2	100.00	0
DMC1	100.00	0
ESR1	99.95	0
FIGLA	98.07	0
FMR1	100.00	0
FOXL2	85.42	0
FOXO1	86.72	0
FOXO3	99.72	0
FSHR	100.00	0
GDF9	100.00	0
GPR3	100.00	0
HFM1	100.00	0
INHA	100.00	0
LHCGR	99.37	0
MCM8	97.95	0
MSH5	99.82	-2
NOBOX	100.00	0
NR5A1	100.00	0
PATL2	100.00	0
PGRMC1	100.00	0
POF1B	100.00	0
SOHLH1	100.00	0
SOHLH2	96.06	0
STAG3	99.70	0
TGFBR3	100.00	0
XPNPEP2	100.00	0

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