
 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Owner
|

 Individual ID
|
0000001619 |
- |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00002702 |
0000001620 |
- |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00002703 |
0000001621 |
- |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00002704 |
0000001622 |
- |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00002705 |
0000002076 |
infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003236 |
0000002077 |
infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003237 |
0000002078 |
infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003238 |
0000002079 |
infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003239 |
0000002080 |
infertility, idopathic; sperm <5M/ml; testicular cytoloy severe hypospermatogenesis |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003240 |
0000002081 |
infertility, idopathic; azoospermia; testicular cytoloy Sertoli cell-only syndrome |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003241 |
0000002082 |
infertility, idopathic; azoospermia; testicular cytoloy Sertoli cell-only syndrome |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003242 |
0000002083 |
infertility, idopathic; azoospermia; testicular cytoloy Sertoli cell-only syndrome |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003243 |
0000002084 |
infertility, idopathic; azoospermia; testicular cytoloy Sertoli cell-only syndrome |
- |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
Johan den Dunnen |
00003244 |
0000091052 |
low T, severe hypospematogenesis; genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115572 |
0000091064 |
normal T, left cryptorchidism; genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115584 |
0000091078 |
normal T; genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115598 |
0000091093 |
genitalia normal; male infertility |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115613 |
0000091183 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115703 |
0000091189 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115709 |
0000091193 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115713 |
0000091202 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115722 |
0000091227 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115747 |
0000091239 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115759 |
0000091243 |
oligospermia; genitalia normal; Infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115763 |
0000091266 |
low T; genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115786 |
0000091278 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115798 |
0000091294 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115814 |
0000091377 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115897 |
0000091402 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115922 |
0000091448 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115968 |
0000091453 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00115973 |
0000091489 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00116009 |
0000091634 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00116154 |
0000091801 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00116321 |
0000091829 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00116349 |
0000091884 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00116404 |
0000091975 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00116495 |
0000092006 |
genitalia normal; infertility, male |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Bruce Gottlieb |
00116526 |
0000106396 |
male infertility (HP:0003251), azoospemia (HP:0000027) |
- |
SPGF70 |
Familial, autosomal recessive |
- |
- |
- |
yeserin@gmail.com |
- |
Yeşerin Yıldırım |
00107535 |
0000106799 |
male infertility (HP:0003251), azoospemia (HP:0000027) |
- |
SPGF70 |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Yeşerin Yıldırım |
00133226 |
0000106801 |
male infertility (HP:0003251), oligospermia (HP:0000798), asthenospermia (HP:0012207) |
- |
SPGF70 |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Yeşerin Yıldırım |
00133223 |
0000106804 |
no male infertility (-HP:0003251), no azoospemia (-HP:0000027), no oligospermia (-HP:0000798), no asthenospermia (-HP:0012207), Nonmotile sperm (HP:0012208) |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Yeşerin Yıldırım |
00133229 |
0000106806 |
male infertility unknown (?HP:0003251), azoospemia unknown (?HP:0000027), oligospermia unknown (?HP:0000798), asthenospermia unknown (?HP:0012207), Nonmotile sperm unknown (?HP:0012208) |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Yeşerin Yıldırım |
00133230 |
0000127076 |
see paper; ..., acephalic spermatozoa (decaudated spermatozoa syndrome (DDS)) |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Johan den Dunnen |
00154401 |
0000173136 |
Absence of outer dynein arms in spermatozoa |
male infertility |
male infertility |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Marie Legendre |
00230656 |
0000173137 |
Absence of outer dynein arms in spermatozoa |
male infertility |
male infertility |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Marie Legendre |
00230657 |
0000173138 |
Absence of outer dynein arms in spermatozoa |
male infertility |
male infertility |
Familial, autosomal recessive |
- |
- |
- |
- |
Protein absent |
Marie Legendre |
00230658 |
0000173141 |
Absence of outer dynein arms in spermatozoa |
male infertility |
male infertility |
Familial, autosomal recessive |
- |
- |
- |
- |
Absence of protiein |
Marie Legendre |
00230659 |
0000208439 |
see paper; … |
male infetrility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00273465 |
0000208440 |
see paper; … |
male infetrility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00273466 |
0000208441 |
see paper; … |
male infetrility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00273467 |
0000209175 |
see paper; ..., 2y of infertility, severe oligozoospermia |
oligozoospermia |
- |
Unknown |
28y |
- |
- |
- |
- |
Johan den Dunnen |
00274230 |
0000209176 |
see paper; ..., 1y6m of infertility, cryptozoospermia |
cryptozoospermia |
- |
Unknown |
29y |
- |
- |
- |
- |
Johan den Dunnen |
00274231 |
0000209177 |
see paper; ..., 2y6m of infertility, cryptozoospermia |
cryptozoospermia |
- |
Unknown |
27y |
- |
- |
- |
- |
Johan den Dunnen |
00274232 |
0000209178 |
see paper; ..., infertility of 17y, azoospermia |
azoospermia |
- |
Unknown |
39y |
- |
- |
- |
- |
Johan den Dunnen |
00274233 |
0000226757 |
see paper; ..., azoospermia (3/3), spermatogenesis arrest (maturation arrest spermatid stage), spermatogoniums and spermatocytes in phase I and phase II, very few spermatids, no spermiums lumen germ epithelia; tubulus membranes partly normal and partly thickened, , thickening excessive in some regions blocking tubules |
azoospermia |
SPGF14 |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00299447 |
0000226758 |
see paper; ..., azoospermia (3/4), oligozoospermia (1/4) |
reduced sperm levels |
SPGF14 |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00299448 |
0000230367 |
see paper; ..., azoospermia |
male infertility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00303291 |
0000230368 |
see paper; ..., azoospermia |
male infertility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00303292 |
0000230369 |
see paper; ..., azoospermia |
male infertility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00303293 |
0000230370 |
see paper; ..., azoospermia |
male infertility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00303294 |
0000230371 |
see paper; ..., azoospermia |
male infertility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00303295 |
0000230616 |
see paper; ..., infertility; no respiratory problems |
male infertility |
- |
Familial, autosomal recessive |
55y |
- |
- |
- |
- |
Johan den Dunnen |
00303540 |
0000230617 |
see paper; ..., infertility; no respiratory problems |
male infertility |
- |
Familial, autosomal recessive |
53y |
- |
- |
- |
- |
Johan den Dunnen |
00303541 |
0000230618 |
see paper; ..., infertility; no respiratory problems |
male infertility |
- |
Familial, autosomal recessive |
47y |
- |
- |
- |
- |
Johan den Dunnen |
00303542 |
0000230619 |
see paper; ..., infertility; no respiratory problems |
male infertility |
- |
Familial, autosomal recessive |
44y |
- |
- |
- |
- |
Johan den Dunnen |
00303543 |
0000230620 |
see paper; ..., situs inversus totalis; infertility; mild respiratory problems |
male infertility |
- |
Familial, autosomal recessive |
27y |
- |
- |
- |
- |
Johan den Dunnen |
00303544 |
0000230621 |
see paper; ..., dextrocardia associated with congenitally corrected transposition of the great arteries, mitral atresia and pulmonic atresia; no respiratory problems |
male infertility |
- |
Familial, autosomal recessive |
3m |
- |
- |
- |
- |
Johan den Dunnen |
00303545 |
0000230622 |
see paper; ..., situs inversus totalis; suspected infertility; no respiratory problems |
male infertility |
- |
Familial, autosomal recessive |
29y |
- |
- |
- |
- |
Johan den Dunnen |
00303546 |
0000230623 |
see paper; ..., situs inversus totalis; infertility; no respiratory problems |
male infertility |
- |
Familial, autosomal recessive |
26y |
- |
- |
- |
- |
Johan den Dunnen |
00303547 |
0000230624 |
see paper; ..., situs inversus totalis; no respiratory problems |
male infertility |
- |
Familial, autosomal recessive |
6y |
- |
- |
- |
- |
Johan den Dunnen |
00303548 |
0000230625 |
see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough |
infertility |
CILD3 |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00303549 |
0000230626 |
see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough |
infertility |
CILD3 |
Familial, autosomal recessive |
15y |
- |
- |
- |
- |
Johan den Dunnen |
00303550 |
0000230627 |
see paper; ..., situs solitus; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough |
infertility |
CILD3 |
Familial, autosomal recessive |
24y |
- |
- |
- |
- |
Johan den Dunnen |
00303551 |
0000230628 |
see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough |
infertility |
CILD3 |
Familial, autosomal recessive |
17y |
- |
- |
- |
- |
Johan den Dunnen |
00303552 |
0000230629 |
see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough |
infertility |
CILD3 |
Familial, autosomal recessive |
16y |
- |
- |
- |
- |
Johan den Dunnen |
00303553 |
0000232859 |
see paper; ... |
male infertility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00307034 |
0000232860 |
see paper; ... |
male infertility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00307035 |
0000232861 |
see paper; ... |
male infertility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00307036 |
0000232863 |
see paper; ..., asthenozoospermia, multiple morphological abnormalities sperm flagella |
male infertility |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00307038 |
0000232864 |
follicle-stimulating hormone 9 (IU/L), luteinizing hormone 5.3 (IU/L), testosterone 14.6 (nmol/L), testicular volume right/left 17/23; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 91/99% spermatocytes, 6/1% spermatogonia, 3/0% Sertoli cell-only, 0/0% tubular shadows), testicular biopsy and sperm extraction negative |
male infertility |
- |
Familial, autosomal recessive |
38y |
- |
- |
- |
- |
Johan den Dunnen |
00307039 |
0000232865 |
follicle-stimulating hormone 4.7 (IU/L), luteinizing hormone 1.5 (IU/L), testosterone 9.6 (nmol/L), testicular volume right/left 19/26; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 71/91% spermatocytes, 10/4% spermatogonia, 17/1% Sertoli cell-only, 2/4% tubular shadows), testicular biopsy and sperm extraction negative |
male infertility |
- |
Familial, autosomal recessive |
41y |
- |
- |
- |
- |
Johan den Dunnen |
00307040 |
0000232866 |
follicle-stimulating hormone 7.8 (IU/L), luteinizing hormone 5.1 (IU/L), testosterone 10.1 (nmol/L), testicular volume right/left 15/15; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 96/97% spermatocytes, 0/2% spermatogonia, 3/1% Sertoli cell-only, 1/0% tubular shadows), testicular biopsy and sperm extraction negative |
male infertility |
- |
Familial, autosomal recessive |
36y |
- |
- |
- |
- |
Johan den Dunnen |
00307041 |
0000232867 |
follicle-stimulating hormone 5.5 (IU/L), luteinizing hormone 3.2 (IU/L), testosterone 43.6 (nmol/L), testicular volume right/left 28/20; cryptozoospermia or azoospermiaa; |
male infertility |
- |
Familial, autosomal recessive |
43y |
- |
- |
- |
- |
Johan den Dunnen |
00307042 |
0000232868 |
follicle-stimulating hormone 3.5 (IU/L), luteinizing hormone 3.6 (IU/L), testosterone 18.6 (nmol/L), testicular volume right/left 26/23; cryptozoospermia or azoospermiaa; |
male infertility |
- |
Familial, autosomal recessive |
26y |
- |
- |
- |
- |
Johan den Dunnen |
00307043 |
0000232869 |
follicle-stimulating hormone 6.7 (IU/L), luteinizing hormone 3.2 (IU/L), testosterone N/A (nmol/L); azoospermia; maturation arrest at round spermatid stage, (quantification N/A), testicular biopsy and sperm extraction negative |
male infertility |
- |
Familial, autosomal recessive |
34y |
- |
- |
- |
- |
Johan den Dunnen |
00307044 |
0000232870 |
follicle-stimulating hormone N/A (IU/L); azoospermia; dispersed Sertoli cells, some tubules contained only spermatogonia, testicular biopsy and sperm extraction negative |
male infertility |
- |
Familial, autosomal recessive |
44y |
- |
- |
- |
- |
Johan den Dunnen |
00307045 |
0000232871 |
follicle-stimulating hormone 5 (IU/L), luteinizing hormone 2.0 (IU/L), testosterone 11.3 (nmol/L); azoospermia; predominant meiotic arrest with occasional spermatids, (unilateral testicular biopsy and sperm extraction: 4% tubules with elongating spermatids, 5% round spermatids, 88% spermatocytes, 2% spermatogonia, 0% Sertoli cell-only, 0% tubular shadows), testicular biopsy and sperm extraction positive |
male infertility |
- |
Familial, autosomal recessive |
41y |
- |
- |
- |
- |
Johan den Dunnen |
00307046 |
0000232872 |
follicle-stimulating hormone 10.4 (IU/L),, testosterone 15.4 (nmol/L), testicular volume right/left 20/20; azoospermia; predominant meiotic arrest with occasional postmeiotic germ cells (quantification N/A), testicular biopsy and sperm extraction negative |
male infertility |
- |
Familial, autosomal recessive |
33y |
- |
- |
- |
- |
Johan den Dunnen |
00307047 |
0000232873 |
follicle-stimulating hormone 8.3 (IU/L), luteinizing hormone 4.4 (IU/L), testosterone 8.8 (nmol/L), testicular volume right/left 15/15; azoospermia; maturation arrest at round spermatid stage, (quantification N/A), testicular biopsy and sperm extraction negative |
male infertility |
- |
Familial, autosomal recessive |
28y |
- |
- |
- |
- |
Johan den Dunnen |
00307048 |
0000232874 |
follicle-stimulating hormone 3.65 (IU/L), luteinizing hormone 3.17 (IU/L), testosterone 18.24 (nmol/L), testicular volume right/left 12/12; severe oligozoospermia |
male infertility |
CMT2Z |
Familial, autosomal recessive |
34y |
- |
- |
- |
- |
Johan den Dunnen |
00307049 |
0000236647 |
see paper; ..., severe asthenozoospermia |
infertility, multiple morphological abnormalities of the flagella |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00311400 |
0000236648 |
see paper; ..., severe asthenozoospermia |
infertility, multiple morphological abnormalities of the flagella |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00311401 |
0000236649 |
see paper; ..., severe asthenozoospermia |
infertility, multiple morphological abnormalities of the flagella |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00311402 |
0000236650 |
see paper; ..., severe asthenozoospermia |
infertility, multiple morphological abnormalities of the flagella |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00311403 |
0000236651 |
see paper; ..., severe asthenozoospermia |
infertility, multiple morphological abnormalities of the flagella |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00311404 |
0000236652 |
see paper; ..., severe asthenozoospermia |
infertility, multiple morphological abnormalities of the flagella |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00311405 |
0000238588 |
see paper; nonobstructive azoospermia, no spermatogonia, no spermatocyte, no spermatids, no mature spermatozoa |
nonobstructive azoospermia |
- |
Unknown |
- |
- |
- |
- |
- |
Johan den Dunnen |
00314816 |
0000238589 |
see paper; nonobstructive azoospermia, ... |
nonobstructive azoospermia |
- |
Unknown |
- |
- |
- |
- |
- |
Johan den Dunnen |
00314831 |
0000238593 |
see paper; idiopathic non-obstructive azoospermia, ... |
non-obstructive azoospermia |
SPGF32 |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Johan den Dunnen |
00314835 |