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Gene: Etv5 MGI:1096867

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ets variant 5
Synonyms:
1110005E01Rik,  erm,  8430401F14Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Etv5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Etv5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Polydactyly OMIM:615988
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Obesity, Polydactyly, Brachydactyly, Micropenis, Synda... OMIM:615983
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... OMIM:620438
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly OMIM:176305
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Young Syndrome
Azoospermia OMIM:279000
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Hyposmia OMIM:613724
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Polydactyly, Renal cyst, Brac... OMIM:615982
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism,... OMIM:614837
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Hypogonadism, Decreased testicular size, Azoospermia, Decreas... OMIM:614897
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Bardet-Biedl Syndrome 7
Clinodactyly, Hypogonadism, Obesity, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Small for gestation... ORPHA:294975
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Anosmia, Decreased serum testosterone concentration, Decreased testicular size, Az... OMIM:308700
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent sinusitis OMIM:618449
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Normosmic Congenital Hypogonadotropic Hypogonadism
Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li... ORPHA:432
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
48,Xyyy Syndrome
Depressed nasal bridge, Male hypogonadism, Recurrent upper respiratory tract infections, Azoosper... ORPHA:99329
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
49,Xyyyy Syndrome
Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreas... ORPHA:99330
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal insufficiency, O... OMIM:615993
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot OMIM:190680
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Hypogonadism, Obesity, Large for gestational age, Polydactyly OMIM:617119
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypo... ORPHA:141333
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Decreased response to growth hormone stimulation test, Decreased testicular size... ORPHA:280679
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Reduced social reciprocity, Increased serum testosterone... ORPHA:8
Ciliary Dyskinesia, Primary, 40
Azoospermia, Chronic rhinitis, Infertility, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Maternal Uniparental Disomy Of Chromosome X
Depressed nasal bridge, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal ... ORPHA:261519
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Postaxial polydactyly, Hypospadias OMIM:615985
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Carpenter Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial foot polydactyly, External genital hypop... ORPHA:65759
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Azoospermia, Narrow palm, Amenorrhea, Infertility, Diabetes insipidus, ... ORPHA:1445
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Reduced sperm motility OMIM:619436
Bardet-Biedl Syndrome 19
Renal hypoplasia, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, External ... OMIM:615996
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Ciliary Dyskinesia, Primary, 34
Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Absent central microtubular pair morpholog... OMIM:617091
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
48,Xxyy Syndrome
Elbow dislocation, Abnormal shoulder morphology, Decreased testicular size, Azoospermia, Obesity,... ORPHA:10
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Bardet-Biedl Syndrome 9
Irregular menstruation, Postaxial foot polydactyly, Obesity, Renal insufficiency, Polydactyly, Po... OMIM:615986
Ring Chromosome 22 Syndrome
Wide nasal base, Bulbous nose, Azoospermia, Inappropriate behavior ORPHA:1446
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Polydactyly, Hy... OMIM:615989
49,Xxxxy Syndrome
Small scrotum, Depressed nasal ridge, Depressed nasal bridge, Hypogonadism, Decreased testicular ... ORPHA:96264
48,Xxxy Syndrome
Small scrotum, Depressed nasal ridge, Hypogonadism, Decreased testicular size, Azoospermia, Obesi... ORPHA:96263
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidis... OMIM:308750
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent sinusitis, Male infertility, Nasal congestion OMIM:300991
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Obesity, Stage 5 chronic ki... OMIM:615994
Ciliary Dyskinesia, Primary, 26
Recurrent sinusitis, Reduced sperm motility, Infertility, Rhinitis, Absent outer dynein arms OMIM:615500
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Recu... OMIM:612649
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Male infertility, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Immo... OMIM:612650
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of th... OMIM:617926
Ciliary Dyskinesia, Primary, 18
Male infertility, Recurrent sinusitis, Immotile sperm, Absent inner dynein arms, Rhinitis, Absent... OMIM:614874
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility OMIM:602271
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity, Cryptorchidism, Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Bifid scrotum, Microphallus, Ectrodactyly, Abnormal scrotum morphology, Cryptor... ORPHA:397590
Aromatase Deficiency
Delayed epiphyseal ossification, Female infertility, Male infertility, Ambiguous genitalia, femal... ORPHA:91
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Abnormal external genitalia, Polydactyly, Decreased body weight, Clinodactyly of the 5th finger, ... ORPHA:231140
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve... ORPHA:330015
Senior-Loken Syndrome 9
Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Hypoplasia of the femora... OMIM:616629
Laurence-Moon Syndrome
Small scrotum, Obesity, Polydactyly, Abnormality of the hand, Micropenis OMIM:245800
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Postaxial polydactyly, Renal cyst, Syndactyly, Vaginal atre... OMIM:605231
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia, Obesity, Postaxial polydactyly, Brachydactyly OMIM:600151
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Immotile sperm, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Reduced sperm motility, Recurrent sinusitis, Absent inner and outer dynein arms,... OMIM:615444
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
8P11.2 Deletion Syndrome
Anosmia, Abnormality of the hypothalamus-pituitary axis, Depressed nasal bridge, Hypogonadism, Az... ORPHA:251066
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Female infertility, Failure to thrive, Premature ovarian insufficiency OMIM:619518
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly ORPHA:2155
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Ciliary Dyskinesia, Primary, 15
Infertility, Nasal polyposis, Immotile sperm, Abnormal axonemal organization of respiratory motil... OMIM:613808
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Nasal congestion, Reduced sperm motility OMIM:615434
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Recurrent sinusitis, Male infertility, Chronic rhinitis OMIM:612444
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly OMIM:601163
Nephronophthisis 15
Obesity, Nephronophthisis, Polydactyly OMIM:614845
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Hypospadias, Cryptorchidism, Polydactyly OMIM:616910
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Ciliary Dyskinesia, Primary, 5
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis, Reduced sperm motility OMIM:608647
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Gapo Syndrome
Choanal atresia, Optic atrophy, Depressed nasal bridge, Hypogonadism, Thick nasal alae, Anteverte... ORPHA:2067
Aarskog-Scott Syndrome
Short 5th finger, Elevated circulating luteinizing hormone level, Failure to thrive, Clinodactyly... OMIM:305400
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Facial diplegia, Hypogonadism OMIM:160900
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Bloom Syndrome
Recurrent upper respiratory tract infections, Azoospermia, Prominent nose, Type II diabetes melli... OMIM:210900
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Broad nasal tip, Failure to thrive, Breast hypoplasia, Prominent nose, Oligozoospermia, Low hangi... OMIM:614813
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms, Rhinitis, Male infertility OMIM:614935
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Reduced social reciprocity, Wi... ORPHA:254531
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov... OMIM:618142
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Neonatal ... OMIM:146510
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Weight loss, Oligozoospermia, Abnormal testis morphology, Primary testicular failur... ORPHA:85450
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypogonadism, Hypopituitarism, Cryptorchidism, Postaxial polydactyly... OMIM:615849
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Chronic rhinitis, Amenorrhea, Delayed puber... ORPHA:168569
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... OMIM:258860
Joubert Syndrome 15
Micropenis, Preaxial polydactyly, Ambiguous genitalia, Nephronophthisis OMIM:614464
Joubert Syndrome 23
Polydactyly OMIM:616490
Hypomelia With Mullerian Duct Anomalies
Split hand, Postaxial hand polydactyly OMIM:146160
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger OMIM:607131
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:607361
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Hypoplastic scapulae, Short distal phalanx of finger, Micromelia, ... OMIM:614091
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Clinodactyly, Tibial torsion, Decreased response... OMIM:602782
Suleiman-El-Hattab Syndrome
Clinodactyly, Failure to thrive, Cryptorchidism, Single transverse palmar crease, Polydactyly, Hy... OMIM:618950
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Postaxial polydactyly, Renal cyst, Camptodactyly, Ulnar deviation of ... OMIM:614175
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly,... OMIM:615503
Joubert Syndrome 37
Decreased testicular size, Obesity, Cryptorchidism, Hydronephrosis, Postaxial polydactyly, Microp... OMIM:619185
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Preaxial foot polydactyly, Obesity, Proteinuria, 2-3... OMIM:619471
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Abnormality of the ovary, Decreased testi... OMIM:209900
Bloom Syndrome
Azoospermia, Oligozoospermia, Abdominal obesity, Premature ovarian insufficiency, Rhinitis, Diabe... ORPHA:125
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Cryptorchidism, Weight loss, Hy... ORPHA:84
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Joubert Syndrome 18
Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyly, Camptodactyly OMIM:614815
Joubert Syndrome 16
Polydactyly OMIM:614465
Primary Ciliary Dyskinesia
Abnormal sperm motility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis,... ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Hypospadias, Sandal gap OMIM:615761
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Failure to thrive in infancy, Polydactyly, Decreased body weight... ORPHA:313781
Endocrine-Cerebroosteodysplasia
Small scrotum, Fibular bowing, Cryptorchidism, Talipes equinovarus, Bowed forearm bones, Hypospad... OMIM:612651
Wolfram Syndrome 1
Hydroureter, Limited mobility of proximal interphalangeal joint, Hydronephrosis, Hypothyroidism, ... OMIM:222300
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Obesity, Abnormal social behavior ORPHA:444002
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Split hand, Phocomelia ORPHA:3004
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Cryptorchidism, Postaxial polydactyly, Small for gestational age, Tapered finger OMIM:613792
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Hip dysplasia, Cryptorchidism, Polydactyly ORPHA:531151
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly OMIM:602501
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... OMIM:619721
Joubert Syndrome 27
Polydactyly OMIM:617120
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Ambiguous genitalia, Brachydactyly, Hypoplas... OMIM:617895
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Cryptorchidism, Failure to thrive, Proximal renal tubular acidosis OMIM:615824
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Macrodactyly
Macrodactyly OMIM:155500
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Hypospadias ORPHA:544254
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Male infertility, Horseshoe kidney, Cryptorchidism, Absent radius, Ect... OMIM:227650
Tarp Syndrome
Failure to thrive, Clinodactyly, Horseshoe kidney, Single transverse palmar crease, Neonatal deat... OMIM:311900
Pelger-Huet Anomaly
Short 3rd metacarpal, Failure to thrive, Upper limb undergrowth, Short 5th metacarpal, Polydactyl... OMIM:169400
Joubert Syndrome 7
Nephronophthisis, Genu valgum, Stage 5 chronic kidney disease, Postaxial polydactyly, Renal cyst,... OMIM:611560
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Facial palsy, Secondary ... OMIM:157640
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Cryptorchidi... OMIM:616300
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Young-Onset Parkinson Disease
Male sexual dysfunction, Female sexual dysfunction, Reduced social reciprocity, Abnormal autonomi... ORPHA:2828
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Male infertility, Chronic rhinitis, Absent outer dynein arms OMIM:244400
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
3Mc Syndrome 3
Clinodactyly, Bifid scrotum, Preaxial polydactyly, Horseshoe kidney, Cryptorchidism, Radioulnar s... OMIM:248340
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Elbow dislocation, Carpal synostosis, Short thumb,... ORPHA:90652
Orofaciodigital Syndrome Type 6
Failure to thrive, Finger clinodactyly, Bilateral cryptorchidism, Preaxial polydactyly, Hand poly... ORPHA:2754
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Congeni... ORPHA:435638
Hsd10 Disease
Optic atrophy, Abnormal social behavior ORPHA:391417
Houge-Janssens Syndrome 2
Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia OMIM:616362
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Syndactyly, Absent thumb, Pect... OMIM:607323
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Splayed toes, Primary amenorrhea, Prema... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Splayed toes, Primary amenorrhea, Prema... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Splayed toes, Primary amenorrhea, Prema... ORPHA:99228
Monosomy X
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Splayed toes, Primary amenorrhea, Prema... ORPHA:99226
Dyrk1A-Related Intellectual Disability Syndrome
Acromesomelia, Unilateral renal agenesis, Hypospadias, Toe syndactyly, Failure to thrive, Breast ... ORPHA:464306
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, Cryptorchidism, 2-3 toe syndactyly, P... ORPHA:404440
Rhombencephalosynapsis
Finger syndactyly, Abnormality of the uterus, Polydactyly, Short phalanx of finger, Complete dupl... ORPHA:59315
Lesch-Nyhan Syndrome
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Hip dislocation OMIM:300322
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Failure to thrive, Cryptorchidism, Single transverse palmar crease... OMIM:247200
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Tarp Syndrome
Finger syndactyly, Failure to thrive, Clinodactyly, Horseshoe kidney, Hypoplasia of proximal radi... ORPHA:2886
Mend Syndrome
Failure to thrive, Broad hallux, Crossed fused renal ectopia, Overlapping fingers, Overlapping to... OMIM:300960
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Spontaneous, recurrent epistaxis, Cachexia, Papilledema, Delayed pub... ORPHA:2072
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Decreased response to growth hormone stimulation test, External genital hypoplas... ORPHA:177907
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Hip dislocation, Aminoac... ORPHA:534
Meckel Syndrome 14
Postaxial foot polydactyly, Bowing of the long bones, Aplasia of the uterus, Postaxial polydactyl... OMIM:619879
Senior-Loken Syndrome 8
Nephronophthisis, Stage 5 chronic kidney disease, Polydactyly, Global glomerulosclerosis, Pancrea... OMIM:616307
Tetrasomy 9P
Inappropriate behavior, Polymicrogyria, Pachygyria, Bulbous nose, Absent gallbladder, Cryptorchid... ORPHA:3310
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Failure to thrive, Supernumerary nipple, Rhizomelic arm shortening, Renal ... ORPHA:397715
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Sandal gap, Horseshoe kidney, Postaxial polydactyly, Postaxial hand p... OMIM:174300
Alstrom Syndrome
Irregular menstruation, Nephritis, Insulin-resistant diabetes mellitus, Decreased response to gro... OMIM:203800
Fg Syndrome Type 1
Small pituitary gland, Choanal atresia, Slender build, Prominent nose, Cryptorchidism, Hypospadia... ORPHA:93932
Bardet-Biedl Syndrome
Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hydrometroco... ORPHA:110
Pallister-Hall Syndrome
Small scrotum, Toe syndactyly, Broad thumb, Radial bowing, Hydrometrocolpos, Hypopituitarism, Pol... ORPHA:672
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Cryptorchidism, Single transverse palmar crease, Polydacty... ORPHA:404448
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Small for gestational age, Short 5th toe, 2-4 toe cutaneous syndactyly... ORPHA:268261
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Cryptorchidism, Hip cont... OMIM:210710
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Horseshoe kidney, Overlapping toe, Clino... ORPHA:221120
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Failure to thrive, Postaxial polydactyly, Hip dy... OMIM:614576
Microphthalmia, Syndromic 6
Small scrotum, Renal hypoplasia, Toe syndactyly, Failure to thrive, Finger syndactyly, Thumb cont... OMIM:607932
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Short tibia, Preaxial polydactyly, Septate vagina, Absent gallbladder, Neonatal... OMIM:617925
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Hemiatrophy, Stippled calc... OMIM:302960
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Nephrocalcinosis, Insulin-resistant diabete... ORPHA:769
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity, Preaxial polydactyly ORPHA:163681
Carpenter Syndrome 2
Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovar... OMIM:614976
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Small hand, Failure to thrive, Prominent fingertip pads, Sandal gap, Decreased... OMIM:615873
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Cryptorchidism, Talipes equinovarus, Dislocated radial head,... OMIM:180849
Au-Kline Syndrome
Chronic kidney disease, Failure to thrive, Supernumerary nipple, Overlapping toe, Vesicoureteral ... OMIM:616580
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Arachnodactyly, Slender toe, Long t... ORPHA:3063
Choanal Atresia
Polydactyly ORPHA:137914
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Clinodactyly, Abnormality of the uterus, Camptodactyly of finger, Rad... OMIM:249000
Cystic Fibrosis
Nasal polyposis, Decreased body mass index, Absent vas deferens, Failure to thrive, Male infertility ORPHA:586
Lamb-Shaffer Syndrome
Optic atrophy, Broad nasal tip, Abnormal social behavior ORPHA:530983
Cystinosis, Nephropathic
Genu valgum, Hematuria, Weight loss, Male infertility, Aminoaciduria, Generalized aminoaciduria, ... OMIM:219800
Mend Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Prominent nasal bridge, Cryptorchidism, A... ORPHA:401973
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Abnormality of thyroid physiology, Hydronephrosis, Postaxial polydactyly, Unilateral ... OMIM:300968
Kinsship Syndrome
Renal hypoplasia, Failure to thrive, Horseshoe kidney, Single transverse palmar crease, Fibular h... OMIM:619297
Vater/Vacterl Association
Failure to thrive, Short thumb, Preaxial polydactyly, Vesicoureteral reflux, Ureteropelvic juncti... OMIM:192350
Legius Syndrome
Male urethral meatus stenosis, Polydactyly, Nephrolithiasis, Clinodactyly of the 5th finger, Ovar... ORPHA:137605
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Ovarian cyst, Polydactyly, Proteinuria, Brachydactyly, ... OMIM:311200
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Congenital hypothyroidism, Single transverse palmar crease, Postaxial polydact... OMIM:617527
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Ovarian carcinoma, Polydactyly, Down-sloping shou... OMIM:109400
Joubert Syndrome 39
Postaxial polydactyly, Overweight, Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Methylmalonic aciduria, Failure to thrive, 3-Methylglutaconic acidu... ORPHA:17
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Wide nasal bridge, Optic atrophy, Underdeveloped nasal alae, Decreased respon... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Wide nasal bridge, Optic atrophy, Underdeveloped nasal alae, Decreased respon... ORPHA:363958
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Toe syndactyly, Failure to thrive, Bilateral renal hypo... OMIM:619488
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Postaxial polydactyly, Micropenis, Polycysti... OMIM:616546
Cystic Fibrosis
Nasal polyposis, Failure to thrive, Male infertility OMIM:219700
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... ORPHA:273
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of... ORPHA:457284
Charge Syndrome
Bifid femur, Bifid scrotum, Abnormal morphology of female internal genitalia, Horseshoe kidney, A... ORPHA:138
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly OMIM:603387
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Failure to thrive, Clinodactyly, Vesicoureteral reflux, Hydronephrosis, Renal c... OMIM:618460
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Hydrometrocolpos, Horseshoe kidney, Postaxial polydactyly, Short clavicles... OMIM:617088
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Congenital Sialidosis Type 2
Polydactyly ORPHA:93400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad distal phalanx of finger, Broad thumb, Failure to thrive, Abnormal proximal phalanx morphol... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad distal phalanx of finger, Broad thumb, Failure to thrive, Abnormal proximal phalanx morphol... ORPHA:353277
Monosomy 9Q22.3
Palmar pits, Ovarian fibroma, Large for gestational age, Polydactyly ORPHA:77301
Stromme Syndrome
Hydronephrosis, Preaxial polydactyly, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Joubert Syndrome 14
Postaxial polydactyly, Renal cyst OMIM:614424
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly OMIM:219730
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Absent proximal phalanx of thumb, Short thumb, Lacrimal gland hyp... OMIM:149730
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Renal insufficiency, Polydactyly, Renal cyst, Brachydactyly, Postaxial ... OMIM:613610
Neurocardiofaciodigital Syndrome
Failure to thrive, Vesicoureteral reflux, Polydactyly, Small for gestational age, Syndactyly OMIM:619869
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Supernumerary nipple, Cryptorchidism, Talipes equinovarus, 2-3 finger syndactyly, Br... OMIM:312870
Noonan Syndrome 1
Clinodactyly, Radial deviation of finger, Hypogonadism, Failure to thrive in infancy, Cryptorchid... OMIM:163950
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Talipes equinovarus,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Talipes equinovarus,... ORPHA:352665
Cerebrooculonasal Syndrome
Postaxial polydactyly, Hypoplastic male external genitalia, Postaxial hand polydactyly OMIM:605627
Faciocardiomelic Syndrome
Hypoplastic pelvis, Slender long bone, Polydactyly OMIM:612731
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Orofaciodigital Syndrome Xiv
Broad hallux, Preaxial polydactyly, Unilateral renal hypoplasia, Cryptorchidism, Postaxial hand p... OMIM:615948
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormal social behavior ORPHA:309256
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Hydronephrosis, Postaxia... ORPHA:480880
Okamoto Syndrome
Urinary incontinence, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Polydactyl... ORPHA:2729
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormal social behavior ORPHA:309263
Williams Syndrome
Precocious puberty, Wide nasal bridge, Cholelithiasis, Failure to thrive in infancy, Obesity, Typ... ORPHA:904
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Failure to thrive, Medullary nephrocalcinosis, Dark urine, Renal insufficiency, Stag... OMIM:619534
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Failure to thrive, Polydactyly OMIM:301022
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Bulbous nose, Anteverted nares, Abnormal social behavior, Wide nose ORPHA:314647
Dihydropyrimidine Dehydrogenase Deficiency
Depressed nasal bridge, Prominent nasal tip, Abnormal social behavior, Anteverted nares ORPHA:1675
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Absent distal phalanges, Arachnodactyly, Talipes equinovarus, Post... OMIM:610168
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Loeys-Dietz Syndrome 1
Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Postaxial hand polydactyly, Camptodac... OMIM:609192
Tuberous Sclerosis Complex
Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tumor, Parathyroid adenom... ORPHA:805
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Etv5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Etv5.

No publications found that use IMPC mice or data for Etv5.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Etv5em1(IMPC)Ccpcz Exon Deletion Mice
Etv5tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Etv5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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