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Gene: Wdr62 MGI:1923696

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Gene Summary

Name:
WD repeat domain 62
Synonyms:
2310038K02Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Wdr62em1(IMPC)Tcp HOM Early adult 0.00
small testis Wdr62em1(IMPC)Tcp HOM Early adult 0.00
male infertility Wdr62em1(IMPC)Tcp HOM Early adult 0.00
small seminal vesicle Wdr62em1(IMPC)Tcp HOM Early adult 0.00
increased circulating sodium level Wdr62em1(IMPC)Tcp HOM Early adult 1.16×10-05
decreased prepulse inhibition Wdr62em1(IMPC)Tcp HOM Early adult 2.82×10-05
small kidney Wdr62em1(IMPC)Tcp HOM Early adult 0.00
microphthalmia Wdr62em1(IMPC)Tcp HOM Early adult 0.00

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Viewing: all phenotypes

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.

Histopathology

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel B FCS file(s)

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

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Human diseases caused by Wdr62 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.

The table below shows human diseases associated to Wdr62 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto... OMIM:604317
Autosomal Recessive Primary Microcephaly
Short stature, Microcephaly, Growth delay, Hypoplasia of the frontal lobes, Pachygyria, Agenesis ... ORPHA:2512

The table below shows human diseases predicted to be associated to Wdr62 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
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
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
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
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 17
Male infertility OMIM:617214
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
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
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin ... ORPHA:8
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Holoprosencephaly OMIM:300706
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... OMIM:615751
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Increased ... ORPHA:90791
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia, Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Diabetes insipidus, Polyuria, Megacystis OMIM:304800
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Nephrogenic diabetes insipidus, Functional abnormality of the b... ORPHA:223
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt... OMIM:614736
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Lacticaciduria, Hyperammonemia, Hy... ORPHA:3008
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... ORPHA:556037
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... ORPHA:97362
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration OMIM:615508
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... ORPHA:556030
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Mirage Syndrome
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Hy... OMIM:617053
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... OMIM:610600
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insipidus OMIM:615465
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... OMIM:264350
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Decreased circ... OMIM:203400
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus, Nocturia ORPHA:178029
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... ORPHA:95512
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Primary Ciliary Dyskinesia
Male infertility, Hydrocephalus, Abnormal sperm motility, Female infertility ORPHA:244
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto... OMIM:604317
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent tonsillitis, Hyper... ORPHA:171876
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... ORPHA:90790
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Nanophthalmos
Microphthalmia ORPHA:35612
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... ORPHA:2470
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism OMIM:613730
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... OMIM:619381
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... OMIM:613845
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside leve... OMIM:608688
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Hereditary Coproporphyria
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... ORPHA:79273
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:85138
Nanophthalmos 4
Microphthalmia OMIM:615972
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Pierpont Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Acute kidney injury ORPHA:449285
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Cryptorchidism OMIM:600118
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, ... ORPHA:85284
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Optic nerve hypoplasia OMIM:620157
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... ORPHA:2239
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone ma... ORPHA:549
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... ORPHA:199296
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... OMIM:603553
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Meckel Syndrome, Type 8
Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthalmia, Enlarged kidney OMIM:613885
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... OMIM:618183
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insuffi... ORPHA:199299
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Whipple Disease
Hyponatremia, Splenomegaly, Mediastinal lymphadenopathy, Erectile dysfunction, Hypothyroidism ORPHA:3452
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased urinary porphobilinogen, In... ORPHA:100924
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... OMIM:617913
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d... ORPHA:1667
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis, Hydronephrosis OMIM:619185
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... ORPHA:427
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Renal insufficiency,... ORPHA:95409
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... ORPHA:31824
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Gracile Bone Dysplasia
Asplenia, Micropenis, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen OMIM:602361
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Microphthalmia, Micropenis, Decreased testicular size ORPHA:335
Congenital Toxoplasmosis
Microphthalmia, Lymphadenopathy ORPHA:858
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... ORPHA:79473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... OMIM:214700
Alg8-Cdg
Hyponatremia ORPHA:79325
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Abnormality of the ureter, Apl... ORPHA:3378
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis ORPHA:195
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Anophthalmia, Diabetes mellitus, Proteinuria, Abnormality of t... ORPHA:2162
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Hydroureter ORPHA:2547
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Hypoalbu... ORPHA:79324
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... ORPHA:534
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney OMIM:619318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hydronephrosis OMIM:618494
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Seckel Syndrome 2
Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:615663
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... ORPHA:247353
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... OMIM:610125
Autosomal Recessive Primary Microcephaly
Short stature, Microcephaly, Growth delay, Hypoplasia of the frontal lobes, Pachygyria, Agenesis ... ORPHA:2512
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia OMIM:615665
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:613155
Rabin-Pappas Syndrome
Hyponatremia, Optic nerve hypoplasia OMIM:620155
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Lissencephaly 8
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:617255
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia OMIM:618652
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:77298
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia, Type I diabetes mellitus ORPHA:290
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Microphtha... OMIM:617914
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Cryptorchidism, Pr... OMIM:227650
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Fused labia majora, Bifid scrotum, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Small scrotum OMIM:610756
Shigellosis
Hyponatremia, Hemolytic-uremic syndrome, Urethritis, Abnormal blood ion concentration, Splenic ab... ORPHA:810
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... OMIM:602450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:615181
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Hypersplenism, Hyp... ORPHA:275761
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Communicating hydrocephalus OMIM:244400
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Renal hypoplasia, ... OMIM:609053
Acute Intermittent Porphyria
Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr... ORPHA:79276
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:494344
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size OMIM:614222
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Short stature, Microcephaly, Cryptorchidism, Prolonged G2 phase o... OMIM:600901
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis, Cryptorchidism OMIM:243310
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... ORPHA:167
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Hypersplenism, Splenomegaly, Biliary hyperplasia, Pancreatic c... ORPHA:731
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis OMIM:248700
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Short stature, Microcephaly, Cryptorchidism, Prolonged G2 phase o... OMIM:227645
Infant Botulism
Hyponatremia ORPHA:178478
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Microphthalmia ORPHA:2728
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Delayed puber... ORPHA:2510
Ring Chromosome 10 Syndrome
Microphthalmia, Hypocalcemia ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:613153
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated ... OMIM:614105
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasia, Micropha... OMIM:603467
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Short stature, Microcephaly, Cryptorchidism, Patent ductus arteri... OMIM:227646
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Temtamy Syndrome
Microphthalmia ORPHA:1777
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hypoalbuminemia OMIM:618805
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:3191
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Abnormal circulating creatine kinase concentra... ORPHA:899
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Japanese Encephalitis
Hyponatremia, Inappropriate antidiuretic hormone secretion ORPHA:79139
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple renal c... ORPHA:99776
Papillorenal Syndrome
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... OMIM:120330
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia ORPHA:3301
Liver Disease, Severe Congenital
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla... OMIM:619991
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Hydrocephalus, Oligozoospermia, Lissencephaly, Infertility, M... ORPHA:3310
Coccidioidomycosis
Abnormality of the endocrine system, Abnormality of the male genitalia, Hydrocephalus, Abnormal s... ORPHA:228123
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Renal hypoplasia, ... OMIM:601186
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased response to grow... OMIM:146510
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis OMIM:613001
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm OMIM:617883
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Ketonuria, Renal hypoplasia OMIM:619053
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia OMIM:616395
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Familial Dysautonomia
Hyponatremia, Renal insufficiency ORPHA:1764
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Renal hypoplasia OMIM:618914
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injur... ORPHA:544482
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism OMIM:244300
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Microphthalmia, Micropenis OMIM:264480
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... OMIM:613179
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, True hermaphr... ORPHA:564
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Cryptorchidism, Microphthalmia, Hydronephrosis ORPHA:568
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe OMIM:615249
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration ORPHA:370959
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Supernumerary nipple, Cryptorchidism OMIM:612530
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Monosomy 18P
Microphthalmia, Hypothyroidism ORPHA:1598
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis ORPHA:2328
Martsolf Syndrome 1
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:212720
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Oligosacchariduria ORPHA:163649
Refsum Disease
Microphthalmia, Splenomegaly, Renal insufficiency ORPHA:773
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Unilateral microphthalmos OMIM:615085
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia OMIM:619148
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio... OMIM:206900
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney, Bone marrow hypocellularity OMIM:617244
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... ORPHA:2059
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Hydronephrosis, Clitoral hypertrophy OMIM:616449
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611134
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:284160
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo... OMIM:617666
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Decreased fertility OMIM:234050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Temtamy Syndrome
Microphthalmia OMIM:218340
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:614230
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia OMIM:616300
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99226
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Microphthalmia OMIM:127000
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis, Hypoplastic male external genitalia, Microphth... OMIM:608091
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... ORPHA:2166
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Patent urachus OMIM:618252
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Splenomegaly, Crypto... OMIM:249000
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Cryptorchidism ORPHA:250989
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... OMIM:603457
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia, Hydronephrosis OMIM:243605
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht... OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Cryptorchidism, Bupht... OMIM:236670
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Joubert Syndrome 14
Microphthalmia, Renal cyst OMIM:614424
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Abnormal circulating follicle-stimulating hormone concentration, Hyperp... ORPHA:93325
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... OMIM:614083
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia
Renal insufficiency, Hydroureter, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Apl... ORPHA:84
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia,... OMIM:607323
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Rena... OMIM:229850
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias, Horseshoe kidney ORPHA:65286
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
Cohen Syndrome
Microphthalmia, Delayed puberty, Cryptorchidism ORPHA:193
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis OMIM:302960
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:616538
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Epididymitis, Prostatitis OMIM:300755
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ... OMIM:251300
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... ORPHA:861
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Male urethral meatus stenosis, Microphthalmia, Cholelithiasis, Hydronephrosis ORPHA:464738
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... OMIM:309801
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormality of the tonsils, Cholelithiasis, Spl... ORPHA:567
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hydronephrosis ORPHA:35173
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Anophthalmia, Abnormality of the spleen, Horseshoe kidney, Perineal... ORPHA:2538
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Hypocholesterolemia, Microphthalmia OMIM:223370
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic labia majora, Bi... OMIM:263650
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hypothyroidism OMIM:620005
Rodrigues Blindness
Microphthalmia OMIM:268320
Trisomy 18
Microphthalmia, Abnormal morphology of female internal genitalia, Hydronephrosis, Cryptorchidism ORPHA:3380
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cryp... ORPHA:2052
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux OMIM:120200
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Cousin Syndrome
Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis OMIM:260660
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
2Q31.1 Microdeletion Syndrome
Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism ORPHA:251014
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia, Adrenal ... OMIM:273395
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis ORPHA:2839
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... OMIM:609049
Cockayne Syndrome
Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, Unilateral rena... ORPHA:191
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... OMIM:214800
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Incontinentia Pigmenti
Hypoplasia of the fovea, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Microphthalmi... OMIM:308300
Frontorhiny
Microphthalmia, Hypopituitarism, Diabetes insipidus ORPHA:391474
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Microphthalmia, Annular pancreas OMIM:616975
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Hypoplasia of the iris, Microphth... OMIM:133540
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... ORPHA:2556
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Horseshoe kidney, Mic... ORPHA:138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:613150
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Horseshoe kidney, Hypoplasia of the iris, Microphthalmia, Hydroneph... ORPHA:2092
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Microphthalmia... OMIM:609945
Degcags Syndrome
Hypospadias, Abnormal renal medulla morphology, Cryptorchidism, Chronic kidney disease, Bilateral... OMIM:619488
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism OMIM:268400
Mend Syndrome
Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Cryptorchidism ORPHA:401973
Monosomy 9P
Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruction ORPHA:261112
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:253800
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Splenomegaly, Re... ORPHA:90324
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Renal hypoplasia, Horseshoe kidney, Microphthalmia, Pelvic k... ORPHA:508498
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Teebi-Shaltout Syndrome
Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Roberts Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:614643
Phace Association
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism OMIM:606519
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret... ORPHA:857
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Ureterocele, Microphthalmia OMIM:616734
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Aplasia/h... ORPHA:672
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism, Bilateral microph... ORPHA:468631
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Horseshoe kidney, Cryptorchidism ORPHA:1106
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Hypothyroidism ORPHA:1052
Cat Eye Syndrome
Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Horseshoe kidney OMIM:115470
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia OMIM:300952
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureteral reflux, Microphthal... ORPHA:959
Hallermann-Streiff Syndrome
Microphthalmia, Hypothyroidism, Cryptorchidism ORPHA:2108
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis OMIM:617925
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Histiocytoid Cardiomyopathy
Microphthalmia, Renal cyst, Congenital aphakia, Polycystic ovaries ORPHA:137675
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis, Supernumerary nipple, Cryptorchidism OMIM:613884
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Abnormal t... OMIM:219000
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration OMIM:601812
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Renpenning Syndrome 1
Hypospadias, Phimosis, Renal hypoplasia, Microphthalmia, Decreased testicular size OMIM:309500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Hypotriglyceridemia ORPHA:85167
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Incontinentia Pigmenti
Microphthalmia, Supernumerary nipple ORPHA:464
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Ovarian carcinoma OMIM:109400
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Clito... OMIM:305600
Atelis Syndrome 2
Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Trichothiodystrophy
Cryptorchidism, Gonadal dysgenesis, Bilateral microphthalmos ORPHA:33364
Alström Syndrome
Hypergonadotropic hypogonadism, Precocious puberty in females, Decreased response to growth hormo... ORPHA:64
Momo Syndrome
Abnormality of the thyroid gland, Bilateral microphthalmos ORPHA:2563
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma ORPHA:77301
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Adrenal insufficiency,... OMIM:300166
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Bilateral microphthalmos, Renovascular hypertension, Hypoplastic lab... ORPHA:3472
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ectopic kidney ORPHA:268249
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Renal hypop... OMIM:607932
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, External genital hypoplasia, Ure... ORPHA:141099
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Micr... OMIM:612289
Cystic Fibrosis
Male infertility OMIM:219700
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Aicardi Syndrome
Precocious puberty, Microphthalmia, Delayed puberty ORPHA:50
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal v... OMIM:236680
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Oculodentodigital Dysplasia
Microphthalmia, Neurogenic bladder OMIM:164200
Aicardi Syndrome
Precocious puberty, Microphthalmia OMIM:304050
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism ORPHA:42775
Steinfeld Syndrome
Microphthalmia, Absent gallbladder OMIM:184705
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Norrie Disease
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cryptorchidism, Hypoplasia of the iris, Erecti... ORPHA:649
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Microphthalmia, Ecto... OMIM:113620
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism OMIM:610828
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidne... OMIM:268300
Witteveen-Kolk Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph... OMIM:613406
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Elevated circulating creatine kinase conce... OMIM:253280
Neu-Laxova Syndrome 1
Cryptorchidism, Microphthalmia, Bifid uterus OMIM:256520
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Absent gallbladder ORPHA:3186
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Sep... ORPHA:261537
Mowat-Wilson Syndrome
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Sep... ORPHA:2152
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia OMIM:235730
Isolated Arrhinia
Microphthalmia ORPHA:1134
Holoprosencephaly 1
Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia OMIM:236100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Sep... ORPHA:261552
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microph... ORPHA:508488
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Monosomy 13Q14
Microphthalmia ORPHA:1587
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Hydroureter, Cryptorchidism, Renal hypoplasia, Microphthalmia OMIM:309800
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Holoprosencephaly 2
Anterior pituitary agenesis, Microphthalmia, Diabetes insipidus, Adrenal hypoplasia OMIM:157170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:175780
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Ectopic kidney, Vesicoureteral reflux, Microphthalmia... OMIM:164210

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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological entity term germ cell defect Wdr62em1(IMPC)Tcp HOM Early adult
Ovary - MPATH pathological process term hypoplasia Wdr62em1(IMPC)Tcp HOM Early adult
Ovary - MPATH pathological process term developmental dysplasia Wdr62em1(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term aspermia Wdr62em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Wdr62em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term aspermia Wdr62em1(IMPC)Tcp HOM Early adult

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 Wdr62.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis. Communications biology (May 2021) Wdr62tm3a(EUCOMM)Hmgu PMC8167107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Wdr62em1(IMPC)Tcp Exon Deletion Mice, Tissue
Wdr62tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Wdr62tm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Wdr62tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Wdr62tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Wdr62tm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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