Phenotypes for disease #05562 (SPGF (spermatogenic failure (SPGF)))

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

94 entries on 1 page. Showing entries 1 - 94.

Legend

How to query

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000168074	male infertility	-	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00222959
0000168075	male infertility	-	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00222960
0000168076	male infertility	-	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00222961
0000168077	male infertility	-	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00222962
0000168078	male infertility	-	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00222963
0000170495	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225378
0000170496	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225379
0000170497	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225380
0000170498	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225381
0000170499	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225382
0000170500	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225383
0000170501	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225384
0000170502	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225385
0000170503	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225386
0000170504	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225387
0000170505	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225388
0000170506	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225389
0000170507	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225390
0000170508	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225391
0000170509	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225392
0000170510	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225393
0000170511	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225394
0000170512	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225395
0000170513	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225396
0000170514	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225397
0000170515	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225398
0000170516	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225399
0000170517	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225400
0000170518	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225401
0000170519	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225402
0000170520	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225403
0000170521	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225404
0000170522	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225405
0000170523	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225406
0000170524	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225407
0000170525	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225408
0000170526	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225409
0000170527	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225410
0000170528	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225411
0000170529	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225412
0000170530	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225413
0000170531	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225414
0000170532	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225415
0000170533	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225416
0000170534	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225417
0000170535	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225418
0000170536	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225419
0000170537	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225420
0000170538	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225421
0000170539	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225422
0000170540	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225423
0000170541	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225424
0000170542	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225425
0000170543	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225426
0000170544	male fertility	-	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225427
0000170545	male infertility	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225428
0000170619	azoospermia	-	non-obstructive azoospermia, meiotic arrest.	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00225505
0000171895	spermatogenic failure	SPGF-8	see paper; …	Unknown	-	-	-	-	Johan den Dunnen	00227900
0000171896	spermatogenic failure	SPGF-8	see paper; …	Unknown	-	-	-	-	Johan den Dunnen	00227901
0000171897	spermatogenic failure	SPGF-8	see paper; …	Unknown	-	-	-	-	Johan den Dunnen	00227902
0000171898	spermatogenic failure	SPGF-8	see paper; …	Unknown	-	-	-	-	Johan den Dunnen	00227903
0000199414	non-obstructive azoospermia	SPGF-28	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00260880
0000199415	non-obstructive azoospermia	SPGF-28	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00260881
0000199416	non-obstructive azoospermia	SPGF-28	see paper; …	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00260882
0000199417	infertility	SPGF-28	see paper; ..., infertility due to oligoasthenospermia or azoospermia	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00260884
0000202001	male infertility	SPGF17	see paper; ..., infertile due to failure of oocyte activation, Western Blot no PLCZ1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00264159
0000207635	male infertility	SPGF	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00269842
0000207636	male infertility	SPGF	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00269843
0000207637	male infertility	SPGF	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00269844
0000207638	male infertility	SPGF	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00269845
0000207639	male infertility	SPGF	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00269846
0000207640	male infertility	SPGF	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00269847
0000207641	male infertility	SPGF	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00269848
0000207642	male infertility	SPGF	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00269849
0000295857	azoospermia	SPGF22	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00403110
0000295858	azoospermia	SPGF23	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00403111
0000295859	azoospermia	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00403112
0000295860	azoospermia	SPGF30	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00403113
0000300290	multiple morphological abnormalities sperm	SPGF49	see paper; ..., asthenoteratozoospermia	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00408161
0000300291	multiple morphological abnormalities sperm	SPGF49	see paper; ..., asthenoteratozoospermia	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00408162
0000300292	multiple morphological abnormalities sperm	SPGF49	see paper; ..., asthenoteratozoospermia	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00408163
0000300293	multiple morphological abnormalities sperm	SPGF49	see paper; ..., asthenoteratozoospermia	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00408164
0000300294	multiple morphological abnormalities sperm	SPGF49	see paper; ..., asthenoteratozoospermia	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00408165
0000306634	nonglobozoospermic	SPGF17	see paper; ..., nonglobozoospermic	Familial, autosomal recessive	44y	-	-	-	Johan den Dunnen	00414835
0000306635	nonglobozoospermic	SPGF17	see paper; ..., nonglobozoospermic	Familial, autosomal recessive	31y	-	-	-	Johan den Dunnen	00414836
0000306636	nonglobozoospermic	SPGF17	see paper; ..., nonglobozoospermic	Familial, autosomal recessive	44y	-	-	-	Johan den Dunnen	00414837
0000307757	azoospermia	SPGFX2	azoospermia, meiotic arrest, mixed testicular atrophy	Familial, X-linked	-	-	-	-	Johan den Dunnen	00415986
0000307758	azoospermia	SPGFX2	azoospermia, meiotic arrest	Familial, X-linked	-	-	-	-	Johan den Dunnen	00415987
0000307759	azoospermia	SPGFX2	azoospermia, meiotic arrest	Familial, X-linked	-	-	-	-	Johan den Dunnen	00415988
0000307760	azoospermia	SPGFX2	azoospermia, meiotic arrest	Familial, X-linked	-	-	-	-	Johan den Dunnen	00415989
0000307761	azoospermia	SPGFX2	azoospermia, meiotic arrest	Familial, X-linked	-	-	-	-	Johan den Dunnen	00415990
0000307762	azoospermia	SPGFX2	azoospermia, meiotic arrest, mixed testicular atrophy	Familial, X-linked	-	-	-	-	Johan den Dunnen	00415991
0000307763	azoospermia	SPGFX2	azoospermia, partial meiotic arrest	Familial, X-linked	-	-	-	-	Johan den Dunnen	00415992
0000309733	azoospermia	SPGFX2	see paper; ..., few sperm	Familial, X-linked	-	-	-	-	Johan den Dunnen	00418365

Legend

How to query

Global Variome shared LOVD