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Gene: Wdr62 MGI:1923696

Gene Summary

Name:

WD repeat domain 62

Synonyms:

2310038K02Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
small testis	Wdr62^em1(IMPC)Tcp	HOM	Early adult	0.00
enlarged lymph nodes	Wdr62^em1(IMPC)Tcp	HOM	Early adult	0.00
increased circulating sodium level	Wdr62^em1(IMPC)Tcp	HOM	Early adult	1.15×10^-05
small kidney	Wdr62^em1(IMPC)Tcp	HOM	Early adult	0.00
male infertility	Wdr62^em1(IMPC)Tcp	HOM	Early adult	0.00
small seminal vesicle	Wdr62^em1(IMPC)Tcp	HOM	Early adult	0.00
microphthalmia	Wdr62^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased prepulse inhibition	Wdr62^em1(IMPC)Tcp	HOM	Early adult	5.13×10^-05

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Immunophenotyping

Panel A FCS file(s)

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Histopathology

Images

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Immunophenotyping

Panel B 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.

Human diseases associated with Wdr62 (2 diseases)
Human diseases predicted to be associated with Wdr62 (758 diseases)

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		Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt...	OMIM:604317
Autosomal Recessive Primary Microcephaly		Hypoplasia of the frontal lobes, Microcephaly, Growth delay, Short stature, Agenesis of corpus ca...	ORPHA:2512

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

Disease	Matching phenotypes	Source
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in...	ORPHA:98797
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Spermatogenic Failure 24	Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 44	Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas...	OMIM:619044
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar...	ORPHA:98798
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m...	OMIM:618433
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
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 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 8	Oligozoospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
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	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
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	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
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 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:620103
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o...	ORPHA:261529
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Spermatogenic Failure 12	Abnormal male germ cell morphology, Infertility, Azoospermia	OMIM:615413
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 17	Male infertility	OMIM:617214
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:108420
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism	OMIM:261550
Premature Ovarian Failure 2B	Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob...	ORPHA:399805
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level	OMIM:619009
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Hyperprolactinemia	Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
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
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo...	OMIM:619949
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
Morbid Obesity And Spermatogenic Failure	Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia	OMIM:615703
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:616950
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens	ORPHA:48
Deleted in azoospermia	Azoospermia	OMIM:400003
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Spermatogenic Failure 28	Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le...	OMIM:618086
Premature Ovarian Failure 22	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:620548
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A...	ORPHA:320391
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre...	OMIM:229070
47,Xyy Syndrome	Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hydrocephalus, Ol...	ORPHA:8
Adrenal Hypoplasia, Congenital	Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of...	OMIM:300200
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615842
Young Syndrome	Azoospermia	OMIM:279000
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Diabetes insipidus, Hyposthenuria, Anterio...	OMIM:615926
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati...	OMIM:619938
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat...	OMIM:228300
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Az...	ORPHA:2183
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615841
Androgen Insensitivity, Partial	Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor...	OMIM:312300
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin...	OMIM:301077
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Low plasma citrulline, Hyperalaninemia, Elevate...	OMIM:615751
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat...	ORPHA:90791
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:614897
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency	ORPHA:35710
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Diabetes insipidus, Hypernatremia	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Megacystis, Nephrogenic diabetes insipidus, Hypernatremia	OMIM:125800
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:91354
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia	OMIM:602390
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Nephrogenic diabetes insipidus, Functional abnorma...	ORPHA:223
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocio...	OMIM:614736
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Agenesis of corpus callosum, Ambiguous genitalia, Primary gonadal insufficiency, Gon...	ORPHA:261519
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit...	ORPHA:91351
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur...	ORPHA:94093
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol respons...	OMIM:201810
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Hemochromatosis, Type 1	Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ...	OMIM:235200
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of...	ORPHA:432
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Infertility, Reduced sperm motility	OMIM:615500
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter, Female infertility	OMIM:617577
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Ciliary Dyskinesia, Primary, 14	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil...	OMIM:613807
Ciliary Dyskinesia, Primary, 12	Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce...	OMIM:612650
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy...	ORPHA:91
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hypoglutaminemia, Hyperglutamatemia, Increased serum...	ORPHA:3008
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms	OMIM:614874
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Male infertility	OMIM:618801
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility	OMIM:619518
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys...	ORPHA:1916
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia	OMIM:620152
Ring Chromosome 21 Syndrome	Diabetes insipidus, Azoospermia, Infertility, Holoprosencephaly, Amenorrhea	ORPHA:1445
Ciliary Dyskinesia, Primary, 11	Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia	OMIM:612649
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del...	ORPHA:99429
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Lead Poisoning	Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn...	ORPHA:330015
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Reduced circulating growth hormone concentration, Hypernatremia, Hypoalbuminemia	OMIM:615508
Familial Glucocorticoid Deficiency	Renal salt wasting, Hyperkalemia, Azoospermia, Decreased circulating dehydroepiandrosterone conce...	ORPHA:361
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ...	ORPHA:786
Mirage Syndrome	Hyperkalemia, Hypospadias, Adrenal hypoplasia, Microphallus, Decreased testicular size, Hypergona...	OMIM:617053
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Corticosterone Methyloxidase Type Ii Deficiency	Renal salt wasting, Hyperkalemia, Increased circulating corticosterone level, Increased circulati...	OMIM:610600
Renal Hypoplasia, Bilateral	Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur...	ORPHA:97362
Ciliary Dyskinesia, Primary, 40	Absent outer dynein arms, Infertility, Azoospermia	OMIM:618300
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot...	ORPHA:280679
Adenohypophysitis	Reduced circulating prolactin concentration, Decreased male libido, Hyposthenuria, Pituitary hypo...	ORPHA:95512
Myotonic Dystrophy 2	Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev...	OMIM:602668
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes...	OMIM:278850
Panhypophysitis	Impotence, Abnormal posterior pituitary morphogenesis, Decreased circulating cortisol level, Decr...	ORPHA:95513
Ciliary Dyskinesia, Primary, 15	Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, ...	OMIM:264350
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Hartsfield Syndrome	Hypospadias, Diabetes insipidus, Gonadotropin deficiency, Hypernatremia, Cryptorchidism, Micropenis	OMIM:615465
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Corticosterone Methyloxidase Type I Deficiency	Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Decreased circ...	OMIM:203400
Central Diabetes Insipidus	Hyponatremia, Nocturia, Diabetes insipidus	ORPHA:178029
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Infertility, Reduced sperm motility	OMIM:615444
Classic Galactosemia	Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M...	ORPHA:79239
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia	OMIM:620423
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556037
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Primary Ciliary Dyskinesia	Hydrocephalus, Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Recurrent tonsillitis, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldo...	ORPHA:171876
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556030
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr...	OMIM:300539
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo...	ORPHA:85450
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Hyperkalemia, Abnormal female exter...	ORPHA:90790
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circulatin...	OMIM:177735
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Lymphadenopathy, Increased LDL cho...	OMIM:267700
Nanophthalmos	Microphthalmia	ORPHA:35612
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside leve...	OMIM:608688
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Hype...	OMIM:619381
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Bartter Syndrome, Type 5, Antenatal, Transient	Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu...	OMIM:300971
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomag...	OMIM:613845
Sheehan Syndrome	Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insufficiency, Decr...	ORPHA:91355
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hypothyroidism, Goiter, Hyponatremia, Hashimoto thyroiditis	ORPHA:83601
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop...	OMIM:110100
Hereditary Coproporphyria	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Hyp...	ORPHA:79273
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female...	ORPHA:85138
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency...	ORPHA:91349
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Gapo Syndrome	Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism	ORPHA:2067
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Pituitary Apoplexy	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul...	ORPHA:95613
Nanophthalmos 4	Microphthalmia	OMIM:615972
Snakebite Envenomation	Hypopituitarism, Acute kidney injury, Hyponatremia	ORPHA:449285
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Legionnaires Disease	Hematuria, Lymphadenopathy, Hyponatremia, Bone marrow hypocellularity, Proteinuria, Splenomegaly,...	ORPHA:549
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Hypophosphatemia, Splenomegal...	OMIM:219800
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Amenorrh...	ORPHA:465508
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypercalciuria, Hypocalce...	ORPHA:2239
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Lymphadenopathy, Hypoproteinemia, Increased total bilirubin, Hyponatremia, ...	OMIM:603553
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Optic nerve hypoplasia	OMIM:620157
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia	OMIM:613885
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Whipple Disease	Mediastinal lymphadenopathy, Erectile dysfunction, Hypothyroidism, Hyponatremia, Splenomegaly	ORPHA:3452
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati...	ORPHA:2232
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, H...	OMIM:618183
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia	ORPHA:682
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s...	ORPHA:1772
Late-Onset Isolated Acth Deficiency	Premature ovarian insufficiency, Hypoparathyroidism, Decreased circulating ACTH concentration, Hy...	ORPHA:199299
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Decreased testicular size, Renal h...	ORPHA:85284
Porphyria Due To Ala Dehydratase Deficiency	Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Purple uri...	ORPHA:100924
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Prolactinoma	Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,...	ORPHA:2965
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep...	OMIM:617913
Acute Adrenal Insufficiency	Renal salt wasting, Hyperkalemia, Delayed puberty, Hyperuricemia, Adrenal hypoplasia, Androgen in...	ORPHA:95409
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ...	ORPHA:411634
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:613090
Wolcott-Rallison Syndrome	Hyperbilirubinemia, Central hypothyroidism, Hyperammonemia, Hyponatremia, Hypothyroidism, Chronic...	ORPHA:1667
Familial Hypoaldosteronism	Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Decreased circ...	ORPHA:427
Congenital Isolated Acth Deficiency	Hyponatremia, Adrenal hypoplasia, Decreased circulating cortisol level, Adrenocorticotropin defic...	ORPHA:199296
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	ORPHA:1359
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ...	ORPHA:572333
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Male infertility	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	Microphthalmia, Hematuria	OMIM:120433
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Hypocalcemia, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Neu...	ORPHA:79473
Colchicine Poisoning	Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoph...	ORPHA:31824
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Congenital Toxoplasmosis	Microphthalmia, Lymphadenopathy	ORPHA:858
Joubert Syndrome 37	Microphthalmia, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena...	ORPHA:300298
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev...	OMIM:214700
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia	OMIM:614813
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Microphthalmia, Con...	OMIM:241410
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt...	OMIM:604317
Wolfram Syndrome 1	Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus	OMIM:222300
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis	ORPHA:2547
Alg8-Cdg	Hyponatremia	ORPHA:79325
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis	ORPHA:195
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Micropenis	ORPHA:335
Cholera	Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn...	ORPHA:173
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Trisomy 13	Microphthalmia, Anophthalmia, Abnormality of the ureter, Hydronephrosis, Displacement of the uret...	ORPHA:3378
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Diabetes insipidus, ...	ORPHA:2162
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph...	ORPHA:534
Alg12-Cdg	Hypospadias, Hyponatremia, Decreased serum insulin-like growth factor 1, Hypoalbuminemia, Hypocho...	ORPHA:79324
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos, Horseshoe kidney	OMIM:619318
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypokalemia, Hypercalciuria, Imp...	ORPHA:89938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Hypoalbuminemi...	ORPHA:247353
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Microcephaly, Growth delay, Short stature, Agenesis of corpus ca...	ORPHA:2512
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Bloom Syndrome	Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus	ORPHA:125
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Renal hypoplasia, Hydronephrosis, Cryptorchidism	OMIM:618494
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613155
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Seckel Syndrome 2	Ectopic kidney, Microphthalmia, Hypospadias	OMIM:606744
Rabin-Pappas Syndrome	Hyponatremia, Optic nerve hypoplasia	OMIM:620155
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris, Splenomegaly, Type I diabetes mellitus	ORPHA:290
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ...	OMIM:201750
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Hyp...	OMIM:617914
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Hematuria	ORPHA:1473
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Lissencephaly 8	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:617255
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Hypertriglyceridemia, Hyperkalemia, Hyponatremia, Hypernatriuria, Abnormal ur...	ORPHA:275761
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Shigellosis	Urethritis, Acute kidney injury, Hemolytic-uremic syndrome, Splenic abscess, Hyponatremia, Abnorm...	ORPHA:810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:615181
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Gener...	OMIM:602450
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Bilateral cryptorchidism	OMIM:618652
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility, Communicating hydrocephalus	OMIM:244400
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Microphthalmia, Optic nerve hypoplasia, Ve...	OMIM:609053
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Microcephaly, Short stature, Prolonged G2 phase...	OMIM:227650
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:77298
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog...	ORPHA:79276
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Renal insufficienc...	ORPHA:731
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ...	ORPHA:293978
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Cryptorchidism, Hypospadias, Vesicoureteral reflux	ORPHA:494344
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Microphthalmia, Beta-alaninuria, E...	OMIM:614105
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Lymphadenopathy, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, Splenom...	ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613153
Infant Botulism	Hyponatremia	ORPHA:178478
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis	OMIM:243310
Ring Chromosome 10 Syndrome	Hypocalcemia, Microphthalmia	ORPHA:1438
Fanconi Anemia, Complementation Group E	Microcephaly, Prolonged G2 phase of cell cycle, Short stature, Hypergonadotropic hypogonadism	OMIM:600901
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Microcephaly, Short stature, Intrauterine growth retardation, Pro...	OMIM:227645
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Necrotizing Enterocolitis	Hyponatremia	ORPHA:391673
Warburg Micro Syndrome 3	Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis	OMIM:614222
Marden-Walker Syndrome	Microphthalmia, Hypospadias, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:248700
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre...	OMIM:137920
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Micro Syndrome	Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplas...	ORPHA:2510
Microphthalmia With Brain And Digit Anomalies	Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Fanconi Anemia, Complementation Group D2	Hypoplasia of the corpus callosum, Hypergonadotropic hypogonadism, Microcephaly, Short stature, A...	OMIM:227646
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microphthalmia, Pelvic kidney, Vesicourete...	OMIM:603467
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microphthalmia	OMIM:618805
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Coccidioidomycosis	Abnormality of the female genitalia, Abnormality of the endocrine system, Hydrocephalus, Abnormal...	ORPHA:228123
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Microphthalmia, Type II diabetes mellitus	ORPHA:3191
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatremia, Hemoglob...	ORPHA:90038
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Small scrotum, Cryptorchidism	ORPHA:2728
Japanese Encephalitis	Hyponatremia, Inappropriate antidiuretic hormone secretion	ORPHA:79139
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Tetrasomy 9P	Hydrocephalus, Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Absent gallbladder, Liss...	ORPHA:3310
Papillorenal Syndrome	Microphthalmia, Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesic...	OMIM:120330
Purine Nucleoside Phosphorylase Deficiency	Elevated urinary inosine level, Hypouricemia, Decreased urinary urate, Increased circulating inos...	OMIM:613179
Walker-Warburg Syndrome	Microphthalmia, Abnormal circulating creatine kinase concentration, Anophthalmia, Hypoplasia of p...	ORPHA:899
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Familial Dysautonomia	Hyponatremia, Renal insufficiency	ORPHA:1764
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Microphthalmia, Ketonuria	OMIM:619053
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal fallopian tube morphology, Hypopl...	ORPHA:99776
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility	ORPHA:730
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Microphthalmia, Ovarian neoplasm	OMIM:617883
Liver Disease, Severe Congenital	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Pancreatic hypoplasia, Alpha-aminobutyric aciduria...	OMIM:619991
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611561
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Hypocalcemia, Anuria, Nephrotic range proteinuria, Hyponatremi...	ORPHA:544482
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Microphthalmia, Lens coloboma	OMIM:618914
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Bicornuate uterus, ...	OMIM:601186
Combined Oxidative Phosphorylation Deficiency 3	Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration	OMIM:610505
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Cryptorchidism	OMIM:613001
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism	OMIM:616395
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
Martsolf Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	ORPHA:370959
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hydroureter, Ectopic kidne...	OMIM:146510
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Monosomy 18P	Hypothyroidism, Microphthalmia	ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe	OMIM:615249
Meckel Syndrome	Microphthalmia, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Accessory splee...	ORPHA:564
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:244300
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia majora	ORPHA:2328
Pseudotrisomy 13 Syndrome	Microphthalmia, Adrenal hypoplasia, Bicornuate uterus, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:264480
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Cryptorchidism	ORPHA:369891
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Microphthalmia, Lenz Type	Microphthalmia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism	ORPHA:568
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Oligosacchariduria	ORPHA:163649
Refsum Disease	Microphthalmia, Renal insufficiency, Splenomegaly	ORPHA:773
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Unilateral microphthalmos	OMIM:615085
Fanconi Anemia, Complementation Group R	Pelvic kidney, Microphthalmia, Bone marrow hypocellularity	OMIM:617244
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Hydronephrosis, Hypospadias, Microphthalmia	OMIM:616449
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism	OMIM:619148
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611134
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Hypoplasia of the thymus, Renal hypoplasia, Ureteral a...	OMIM:617666
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Cryptorchi...	ORPHA:2059
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Decreased fertility	OMIM:234050
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Temtamy Syndrome	Microphthalmia	OMIM:218340
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:99413
Turner Syndrome	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:881
Mosaic Monosomy X	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:99228
Monosomy X	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:99226
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Patent urachus	OMIM:618252
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Transient hypophosphatemia, Hypocalcemia, Hyperphosphatemia	OMIM:127000
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hyp...	OMIM:603457
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias	ORPHA:3063
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Renal insuffic...	OMIM:608091
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Steinert Myotonic Dystrophy	Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula...	ORPHA:273
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism	OMIM:616300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Macroorchidism	OMIM:618874
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Renal cyst, Penile hypospadias, Micropenis	ORPHA:1692
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Fanconi Anemia, Complementation Group L	Microphthalmia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Bone marrow h...	OMIM:614083
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma...	ORPHA:2166
Joubert Syndrome 14	Microphthalmia, Renal cyst	OMIM:614424
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri...	OMIM:617729
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Fanconi Anemia	Microphthalmia, Hydroureter, Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased f...	ORPHA:84
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Cystic renal dysplasia, A...	OMIM:249000
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux	ORPHA:250989
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of ...	OMIM:309801
3Q29 Microdeletion Syndrome	Microphthalmia, Horseshoe kidney, Hypospadias	ORPHA:65286
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, C...	OMIM:607323
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Aplasia of the uterus, Polycystic kidney dysplasia	OMIM:619879
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Elevated circulating...	OMIM:236670
Agammaglobulinemia, X-Linked	Prostatitis, Lymph node hypoplasia, Epididymitis	OMIM:300755
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Cryptorchi...	OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:616538
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Rectovaginal fistula, Anophthalmia, Perineal fistula, Crossed fused renal ectopia...	ORPHA:2538
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Cholelithiasis, Hydronephrosis, Male urethral meatus stenosis	ORPHA:464738
Chondrodysplasia Punctata 2, X-Linked Dominant	Elevated 8(9)-cholestenol, Microphthalmia, Hydronephrosis, Elevated 8-dehydrocholesterol	OMIM:302960
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Hypocalcemic seizures, Abnormal circulating follicle-stimulating hormon...	ORPHA:93325
Galloway-Mowat Syndrome 1	Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, P...	OMIM:251300
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Cohen Syndrome	Delayed puberty, Microphthalmia, Cryptorchidism	ORPHA:193
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Fryns Syndrome	Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, ...	OMIM:229850
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Fanconi Anemia, Complementation Group N	Microphthalmia, Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Horseshoe kidney	OMIM:610832
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Treacher-Collins Syndrome	Microphthalmia, Abnormality of the adrenal glands, Rectovaginal fistula, Hypoplasia of penis, Thy...	ORPHA:861
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:3412
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
22Q11.2 Deletion Syndrome	Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypocalcemia, Polycystic kidney ...	ORPHA:567
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Rodrigues Blindness	Microphthalmia	OMIM:268320
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Accessory spleen, Hypothyroidism, Renal hypoplasia, Cryptorchidism	OMIM:620005
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Dubowitz Syndrome	Microphthalmia, Hypospadias, Hypoplasia of the iris, Hypocholesterolemia, Cryptorchidism	OMIM:223370
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Hydronephrosis, Ambiguous genitalia, female	OMIM:260660
Bartsocas-Papas Syndrome 1	Microphthalmia, Ectopic kidney, Hypoplastic labia majora, Hypoplastic male external genitalia, Bi...	OMIM:263650
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux	OMIM:120200
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Trisomy 18	Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia, Hydronephrosis	ORPHA:3380
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis	ORPHA:2839
Charge Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas...	OMIM:214800
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Cockayne Syndrome	Delayed puberty, Microphthalmia, Urinary incontinence, Unilateral renal agenesis, Hyperuricemia, ...	ORPHA:191
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis	ORPHA:251014
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoproteinemia, Hypoplasia of the iris, Nephroti...	OMIM:609049
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Frontorhiny	Hypopituitarism, Microphthalmia, Diabetes insipidus	ORPHA:391474
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Tetraamelia Syndrome 1	Microphthalmia, Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Urethral atresia, Ad...	OMIM:273395
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology...	ORPHA:2556
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Hypoplasia of the fovea, ...	OMIM:308300
Cystic Fibrosis	Absent vas deferens, Male infertility	ORPHA:586
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Degcags Syndrome	Abnormal renal medulla morphology, Microphthalmia, Hypospadias, Hyperbilirubinemia, Abnormal sple...	OMIM:619488
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism, Microphthalmia	OMIM:268400
Cockayne Syndrome B	Microphthalmia, Renal insufficiency, Hypoplasia of the iris, Proteinuria, Splenomegaly, Cryptorch...	OMIM:133540
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Hydronephrosis, Multicystic kidney dysplasia, Horseshoe k...	ORPHA:2092
Cockayne Syndrome Type 3	Microphthalmia, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hyd...	ORPHA:90324
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613150
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:253800
Charge Syndrome	Delayed puberty, Microphthalmia, Abnormality of the adrenal glands, Horseshoe kidney, Anterior hy...	ORPHA:138
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Vesicoureteral reflux, Renal cyst, Cryptorchidism	OMIM:616975
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Pelvic kidney, Optic nerve hypoplasia, Renal hypoplasia, Horseshoe k...	ORPHA:508498
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Unconjugated hyperbilirub...	OMIM:620186
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Micropenis, Hors...	OMIM:609945
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Phace Association	Optic nerve hypoplasia, Microphthalmia, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Microphthalmia, Hypercholesterolemia, Elevated ...	OMIM:309000
Teebi-Shaltout Syndrome	Microphthalmia, Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Mend Syndrome	Elevated 8(9)-cholestenol, Microphthalmia, Cryptorchidism, Elevated 8-dehydrocholesterol	ORPHA:401973
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Vaginal neoplasm, Hypothyroidism, Ambiguous genitalia, Multicystic kidney dysplasia	ORPHA:1052
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:614643
Cat Eye Syndrome	Microphthalmia, Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	OMIM:115470
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia	OMIM:300952
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency,...	ORPHA:672
Roberts Syndrome	Clitoral hypertrophy, Microphthalmia, Long penis, Polycystic kidney dysplasia, Cryptorchidism	ORPHA:3103
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Ureterocele, Small scrotum, Cryptorchidism	OMIM:616734
Histiocytoid Cardiomyopathy	Polycystic ovaries, Microphthalmia, Congenital aphakia, Renal cyst	ORPHA:137675
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Bladder diverticulum, Crossed fused...	ORPHA:959
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal...	ORPHA:857
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Hallermann-Streiff Syndrome	Hypothyroidism, Microphthalmia, Cryptorchidism	ORPHA:2108
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Optic nerve hypo...	ORPHA:468631
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia	OMIM:601812
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Alström Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	ORPHA:64
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, Horseshoe kidney, True anophthalmia	ORPHA:1106
Incontinentia Pigmenti	Microphthalmia, Supernumerary nipple	ORPHA:464
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Hypotriglyceridemia	ORPHA:85167
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Ovarian carcinoma, Microphthalmia	OMIM:109400
Cystic Fibrosis	Male infertility	OMIM:219700
Fraser Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor...	ORPHA:2052
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Renal hypoplasia	OMIM:309500
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Hyperinsulinemia	OMIM:620185
Noonan Syndrome 1	Male infertility, Cryptorchidism, Hypospadias, Hypogonadism	OMIM:163950
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Supernumerary nipple	OMIM:613884
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Ren...	OMIM:219000
Monosomy 9Q22.3	Ovarian fibroma, Microphthalmia	ORPHA:77301
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Adrenal hypoplasia, Female hypogonadism, ...	OMIM:607932
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Hypothyroidism, Phthisis bulbi, Septate vagina, Crypto...	OMIM:300166
Focal Dermal Hypoplasia	Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipp...	OMIM:305600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Cryptorchidism	ORPHA:33364
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ectopic kidney	ORPHA:268249
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Aicardi Syndrome	Precocious puberty, Microphthalmia, Delayed puberty	ORPHA:50
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Renal artery stenosi...	ORPHA:3472
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Fontaine Progeroid Syndrome	Microphthalmia, Hypoplastic nipples, Absent nipple, Small scrotum, Cryptorchidism, Micropenis, Hy...	OMIM:612289
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia	ORPHA:2612
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Oculodentodigital Dysplasia	Neurogenic bladder, Microphthalmia	OMIM:164200
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Aicardi Syndrome	Precocious puberty, Microphthalmia	OMIM:304050
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Hypothyroidism, Lens coloboma, Ectopic thyroid	ORPHA:42775
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Norrie Disease	Delayed puberty, Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Cryptorchi...	ORPHA:649
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Steinfeld Syndrome	Absent gallbladder, Microphthalmia	OMIM:184705
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism	OMIM:610828
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Traboulsi Syndrome	Microphthalmia, Homocystinuria	OMIM:601552
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Phimosis, Uni...	OMIM:613406
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Renal cyst, Ectopic thymus tissue, Cryptorchidism, Sup...	OMIM:113620
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Accessory s...	OMIM:268300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia	ORPHA:3186
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V...	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V...	ORPHA:2152
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	Microphthalmia, Bifid uterus, Cryptorchidism	OMIM:256520
Holoprosencephaly 1	Microphthalmia, Adrenal hypoplasia, Micropenis, Diabetes insipidus	OMIM:236100
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism	OMIM:154500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Hypospadias, Duplication of renal pelvis, Multicystic kidne...	ORPHA:261552
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism, Supernumerary nipple	OMIM:235730
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Unilateral renal agenesis, Pelvic kidney, Optic nerve hypoplasia, Vesic...	ORPHA:508488
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Neuroocular Syndrome	Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Microphthalmia, Syndromic 1	Microphthalmia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasia, Cryptorchidism	OMIM:309800
Holoprosencephaly 2	Microphthalmia, Adrenal hypoplasia, Anterior pituitary agenesis, Diabetes insipidus	OMIM:157170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Elevated circulating creatine kinase concentration, Hypoplasia of the iris	OMIM:175780
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Ureteropelvic junction obstr...	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	Life Stage
Ovary - MPATH pathological process term hypoplasia	Wdr62^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological entity term germ cell defect	Wdr62^em1(IMPC)Tcp	HOM	Early adult
Epididymis - MPATH pathological process term aspermia	Wdr62^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term spermatogenesis defect	Wdr62^em1(IMPC)Tcp	HOM	Early adult
Ovary - MPATH pathological process term developmental dysplasia	Wdr62^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term aspermia	Wdr62^em1(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)	Wdr62^{tm3a(EUCOMM)Hmgu}	PMC8167107

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MGI Allele	Allele Type	Produced
Wdr62^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Wdr62^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Wdr62^{tm3e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Wdr62^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Wdr62^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Wdr62^{tm3a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Wdr62 MGI:1923696

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Immunophenotyping

X-ray

Histopathology

X-ray

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

Immunophenotyping

Human diseases caused by Wdr62 mutations

Histopathology

IMPC related publications

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