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Gene: Tbc1d20 MGI:1914481

Gene Summary

Name:

TBC1 domain family, member 20

Synonyms:

1110028I04Rik, bs, 2810442O16Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Tbc1d20^em1(IMPC)Mbp	HET	Early adult	0.00
increased heart weight	Tbc1d20^em1(IMPC)Mbp	HET	Early adult	4.22×10^-05
male infertility	Tbc1d20^em1(IMPC)Mbp	HOM	Early adult	0.00
increased red blood cell distribution width	Tbc1d20^em1(IMPC)Mbp	HET	Early adult	3.44×10^-05
hemorrhage	Tbc1d20^em1(IMPC)Mbp	HET	E18.5	0.00

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.

MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Tbc1d20 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 Tbc1d20 (2 diseases)
Human diseases predicted to be associated with Tbc1d20 (896 diseases)

The table below shows human diseases associated to Tbc1d20 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Warburg Micro Syndrome 4		Small scrotum, Microcornea, Decreased testicular size, Cryptorchidism, Low anterior hairline, Hir...	OMIM:615663
Micro Syndrome		Lissencephaly, Cataract, Microcornea, Cryptorchidism, Generalized hirsutism, Delayed puberty, Mic...	ORPHA:2510

The table below shows human diseases predicted to be associated to Tbc1d20 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 17	Male infertility	OMIM:617214
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
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Nondisjunction	Decreased fertility	OMIM:158250
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism	OMIM:274205
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias	ORPHA:1381
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Infertility, Cataract	OMIM:300719
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Spastic Paraparesis And Deafness	Hypogonadism, Cataract	OMIM:312910
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i...	ORPHA:3000
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con...	ORPHA:52901
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Spastic Paraparesis-Deafness Syndrome	Hypogonadism, Cataract	ORPHA:2815
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Cataract, Microcornea, Microphthalmia	ORPHA:2528
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve...	OMIM:240950
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Cataract-Deafness-Hypogonadism Syndrome	Hypogonadism, Developmental cataract, Generalized hypertrichosis	ORPHA:1383
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
Progesterone Resistance	Female infertility	OMIM:264080
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
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
X-Linked Retinoschisis	Cataract	ORPHA:792
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism, Cataract, Muscular dystrophy	OMIM:254000
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Galactokinase Deficiency	Cataract, Nuclear cataract, Hyperinsulinemia, Premature ovarian insufficiency, Hypergonadotropic ...	ORPHA:79237
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Nathalie Syndrome	Cataract	ORPHA:2663
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Autosomal Recessive Spastic Paraplegia Type 46	Cataract, Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm m...	ORPHA:320391
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:363741
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia	OMIM:615703
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Deleted in azoospermia	Azoospermia	OMIM:400003
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Trichomegaly	Cataract	OMIM:190330
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Hypochromia,...	OMIM:616860
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cataract, Cryptorchidism, Microphthalmia	OMIM:601794
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Leukoencephalopathy With Vanishing White Matter 2	Premature ovarian insufficiency, Secondary amenorrhea, Cataract	OMIM:620312
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypospadias	ORPHA:141333
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism	ORPHA:2489
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract	ORPHA:1875
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Decrease...	ORPHA:2410
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Premature ovarian insufficiency, Cataract	ORPHA:2278
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Nail dystrophy, Juvenile cataract, Absent eyelashes, Hypothyroidism, Absent ey...	OMIM:618625
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Morm Syndrome	Micropenis, Cataract	ORPHA:75858
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Weill-Marchesani Syndrome 3	Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:614819
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ...	OMIM:258900
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Cofs Syndrome	Hypogonadism, Cataract, Microphthalmia	ORPHA:1466
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Young Syndrome	Azoospermia	OMIM:279000
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ...	OMIM:300200
Galactosemia Ii	Cataract	OMIM:230200
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract	OMIM:610156
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Galactosemia Iv	Cataract	OMIM:618881
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
1Q21.1 Microduplication Syndrome	Cataract, Hypospadias, Cryptorchidism	ORPHA:250994
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Warburg Micro Syndrome 1	Microcornea, Facial hypertrichosis, Hypertrichosis, External genital hypoplasia, Cryptorchidism, ...	OMIM:600118
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Sparse pubic hair, Abnormality of the Leydig cells, Decreased circulating dihy...	OMIM:228300
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Macular hypoplasia...	OMIM:612109
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Low posterior hairline, Sparse facial hair, Absent facial hair, Abnormality of the h...	ORPHA:2183
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of toe, Nuclear cataract, Camptodactyly of finger	ORPHA:2848
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral meatus, Am...	ORPHA:893
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract	ORPHA:39044
Mmep Syndrome	Cryptorchidism, Microphthalmia	ORPHA:3434
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Martsolf Syndrome 2	Hypogonadotropic hypogonadism, Developmental cataract, Cataract	OMIM:619420
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Nathalie Syndrome	Cataract	OMIM:255990
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula...	OMIM:308700
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc...	ORPHA:8
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism, Microcornea, Cataract	ORPHA:48431
Myotonic Dystrophy 2	Posterior subcapsular cataract, Frontal balding, Hypogonadism, Type II diabetes mellitus, Elevate...	OMIM:602668
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Premature graying of hair, Decreased response to growth hormone stimulation test, Decre...	ORPHA:280679
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Cryptorchidism	ORPHA:1069
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Cataract, Developmental cataract, Microphthalmia, Micropenis, Sparse hair	OMIM:610756
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Cryptorchidism, Microphthalmia	OMIM:613730
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Microcornea, Corneal opacity	ORPHA:2432
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Microphthalmia, Syndromic 8	Microcornea, Cryptorchidism, Microphthalmia	OMIM:601349
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Oculocerebrocutaneous Syndrome	Alopecia, Cryptorchidism, Anophthalmia, Microphthalmia, Gray matter heterotopia	OMIM:164180
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia	OMIM:161200
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Myotonic Dystrophy 1	Cataract, Cholelithiasis, Frontal balding, Hypogonadism, Testicular atrophy	OMIM:160900
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:615524
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism,...	ORPHA:3085
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:1135
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract, Joint contracture of the hand, Skeletal muscle atrophy, Arthrogryposis multiple...	OMIM:601701
Pierpont Syndrome	Abnormal cortical gyration, High anterior hairline, Microcornea, Cryptorchidism, Microphthalmia	ORPHA:487825
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Laurence-Moon Syndrome	Cataract, Type II diabetes mellitus, Cryptorchidism, Displacement of the urethral meatus, Hypopla...	ORPHA:2377
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Cryptorchidism, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma,...	ORPHA:139471
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Low posterior hairline, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Microphthalmia,...	OMIM:610125
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Hemochromatosis, Type 1	Alopecia, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, ...	OMIM:235200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia	OMIM:609218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Periventricular heterotopia, Microphthalmia, Simplified gyral pattern	OMIM:616171
Complete Androgen Insensitivity Syndrome	Sparse pubic hair, Elevated circulating luteinizing hormone level, Abnormal morphology of female ...	ORPHA:99429
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Mevalonic Aciduria	Cataract, Nuclear cataract	OMIM:610377
Warburg Micro Syndrome 3	Small scrotum, Cataract, Microcornea, Hypertrichosis, Polymicrogyria, Decreased testicular size, ...	OMIM:614222
Warburg Micro Syndrome 4	Small scrotum, Microcornea, Decreased testicular size, Cryptorchidism, Low anterior hairline, Hir...	OMIM:615663
Hereditary Bullous Dystrophy, Macular Type	Cataract, Alopecia, Atrichia, Decreased testicular size, External genital hypoplasia, Cryptorchid...	ORPHA:1867
Cataract 47	Cataract, Microcornea	OMIM:612018
Hereditary Leiomyomatosis And Renal Cell Cancer	Vaginal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma	ORPHA:523
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Ambiguous genitalia, Microphthalmia	ORPHA:93267
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia	OMIM:302350
Trichothiodystrophy 4, Nonphotosensitive	Sparse hair, Microcornea, Trichorrhexis nodosa, Decreased fertility, Nail dystrophy, Microphthalm...	OMIM:234050
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Sparse body hair, Absence of secondary sex characteristics, Non-obstructive az...	ORPHA:432
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Reduced sperm motility	OMIM:615434
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Kallmann Syndrome With Spastic Paraplegia	Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo...	OMIM:308750
Ectopia Lentis 1, Isolated, Autosomal Dominant	Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:129600
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism	ORPHA:2772
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Flexion contracture, Hip contracture, Zonular cataract	OMIM:222765
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ...	OMIM:269400
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract	OMIM:608885
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c...	ORPHA:786
Chondrodysplasia Punctata 1, X-Linked Recessive	Hypogonadism, Cataract	OMIM:302950
Warburg Micro Syndrome 2	Small scrotum, Cataract, Microcornea, Polymicrogyria, Cryptorchidism, Low anterior hairline, Hypo...	OMIM:614225
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Pierpont Syndrome	High anterior hairline, Microcornea, Cryptorchidism, Microphthalmia, Micropenis	OMIM:602342
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract, Coarse hair, Cryptorchidism, Punctate cataract, Brittle hair, Spars...	OMIM:607812
Erythrokeratodermia Variabilis	Cataract, Alopecia, Abnormal hair morphology, Generalized hirsutism, Corneal opacity, Abnormal te...	ORPHA:317
Otodental Syndrome	Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma	ORPHA:2791
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Hypergonadotropic hypogonadism	OMIM:614307
WAGR 11p13 deletion syndrome	Aniridia, Abnormality of the male genitalia	DECIPHER:35
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Vaginal hernia	ORPHA:3173
Deafness-Hypogonadism Syndrome	Heterochromia iridis, Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis	ORPHA:90646
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Bresek Syndrome	Alopecia, Decreased testicular size, Cryptorchidism, Microphthalmia, Iris coloboma, Optic nerve h...	ORPHA:85284
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Senior-Loken Syndrome	Premature ovarian insufficiency, Cataract	ORPHA:3156
Kniest Dysplasia	Aplasia/Hypoplasia of the lens, Cataract, Lens luxation	ORPHA:485
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Microphthalmia	ORPHA:1617
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Type II lissencephaly, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia	ORPHA:324416
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Microphthalmia/Coloboma 5	Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce...	OMIM:612650
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Low posterior hairline, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal ...	ORPHA:261519
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:1473
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Fryns Microphthalmia Syndrome	Unicornuate uterus, Anophthalmia, Microphthalmia	OMIM:600776
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Optic nerve hypoplasia	OMIM:620609
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve...	ORPHA:330015
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Alopecia, Fine hair, Hypogonadism, Cryptorchidism, Microphthalmia	ORPHA:228390
Ciliary Dyskinesia, Primary, 26	Infertility, Absent outer dynein arms, Reduced sperm motility	OMIM:615500
Cataract 48	Cataract	OMIM:618415
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl...	ORPHA:231226
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low posterior hairline, Hypogonadotropic hypogonadism, Cryptorchidism, Cataract	ORPHA:1387
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased re...	OMIM:300845
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Trichothiodystrophy 3, Photosensitive	Cataract, Bilateral cryptorchidism, Trichorrhexis nodosa, Tiger tail banding, Developmental catar...	OMIM:616395
Autosomal Recessive Spastic Paraplegia Type 26	Decreased serum testosterone concentration, Premature ovarian insufficiency, Cataract	ORPHA:101006
Classic Galactosemia	Cataract, Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin...	ORPHA:79239
Microphthalmia/Coloboma 7	Iris coloboma, Microphthalmia	OMIM:614497
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility	OMIM:614874
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyebrow, Hypogonadism, Dysmenorrhea, Sparse eyelashes, Amenorrhea, ...	ORPHA:2067
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Cataract, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle we...	OMIM:157640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Type II lissencephaly, Low anterior hairline, Corneal opacity, Microphthalmia, Pachygyr...	OMIM:613153
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia	OMIM:610023
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Microcornea, Female infertility...	OMIM:110100
Micro Syndrome	Lissencephaly, Cataract, Microcornea, Cryptorchidism, Generalized hirsutism, Delayed puberty, Mic...	ORPHA:2510
Hemochromatosis, Type 4	Cataract, Impotence, Diabetes mellitus	OMIM:606069
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Aniridia 3	Cataract, Aniridia	OMIM:617142
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Pachygyria, Cataract, Simplified gyral pattern, Microphthalmia	OMIM:251270
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility	OMIM:612649
Norrie Disease	Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil morphology, Cry...	ORPHA:649
Retinitis Pigmentosa 86	Cortical cataract	OMIM:618613
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Walker-Warburg Syndrome	Cataract, Microcornea, Abnormal cortical gyration, Polymicrogyria, Pachygyria, Cryptorchidism, An...	ORPHA:899
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Nail dy...	OMIM:601675
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Developmental cataract, Microphthalmia, Micr...	ORPHA:335
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Anophthalmia, Microp...	OMIM:615877
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Peters anomaly, Bilateral cryptorchidism	OMIM:618652
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Combined Oxidative Phosphorylation Deficiency 47	Cataract, Cryptorchidism	OMIM:618958
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Sparse lateral eyebrow, Astigmatism, Microphthalmia, Gray matter heterotopia	OMIM:619694
Borjeson-Forssman-Lehmann Syndrome	Small scrotum, Cataract, Hypogonadism, Decreased testicular size, Thick eyebrow, Cryptorchidism, ...	ORPHA:127
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Kapur-Toriello Syndrome	Cataract, Polymicrogyria, Pachygyria, Cryptorchidism, Low posterior hairline, Hypoplastic labia m...	OMIM:244300
Vitreoretinochoroidopathy	Microcornea, Developmental cataract, Pulverulent cataract	OMIM:193220
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypospadias, Cryptorchidism, Anophthalmia, Microphthalmia, Sclerocornea, Hypoplasia of penis, Iri...	ORPHA:77298
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Microcornea, Abnormal scrotum morphology, Cryptorchidism, Generalized hirsutism, M...	ORPHA:2505
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia, Corneal opacity	ORPHA:2788
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
3-Methylglutaconic Aciduria, Type Viib	Cataract, Flexion contracture, Zonular cataract	OMIM:616271
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Lissencephaly 8	Cataract, Polymicrogyria, Type II lissencephaly, Microphthalmia, Agyria	OMIM:617255
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia...	ORPHA:2250
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Hereditary Mucoepithelial Dysplasia	Cataract, Alopecia, Fine hair, Abnormal morphology of female internal genitalia, Sparse hair, Cor...	ORPHA:1839
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia	ORPHA:209956
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Microphthalmia	OMIM:300915
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Trisomy 13	Cataract, Abnormal morphology of female internal genitalia, Cryptorchidism, Aplasia/Hypoplasia of...	ORPHA:3378
Meckel Syndrome, Type 8	Ambiguous genitalia, Anophthalmia, Microphthalmia	OMIM:613885
Baraitser-Winter Syndrome 1	Highly arched eyebrow, Pachygyria, Cryptorchidism, Low posterior hairline, Microphthalmia, Microp...	OMIM:243310
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Annular pancreas, Hypogonadism, Cryptorchidism, Zonular cataract	OMIM:268400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos, Hirsutism	OMIM:619318
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Sutural cataract, Myopathy, Weakness of facial musculature	OMIM:201470
Stickler Syndrome, Type V	Cataract	OMIM:614284
Bone Marrow Failure Syndrome 5	Testicular atrophy, Nail dystrophy, Hypogonadism	OMIM:618165
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Cataract, Microphthalmia	OMIM:610651
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract, Cryptorchidism, Hirsutism	OMIM:214150
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis, Sparse hair	OMIM:619185
Wolfram Syndrome 1	Cataract, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus	OMIM:222300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Polymicrogyria, Type II lissencephaly, Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract, Premature graying of hair, Hypogonadism, Sparse hair	OMIM:616200
Woolly Hair	Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr...	ORPHA:170
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract, Flexion contracture of finger	ORPHA:1010
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh...	ORPHA:2232
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Kapur-Toriello Syndrome	Polymicrogyria, Hypoplastic labia majora, Microphthalmia, Pachygyria, Hypoplasia of penis, Iris c...	ORPHA:2328
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Nanophthalmos	Microphthalmia	ORPHA:35612
Cataract 49	Posterior cortical cataract	OMIM:619593
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Cata...	OMIM:240300
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Microphthalmia	ORPHA:2547
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Developmental And Epileptic Encephalopathy 1	Micropenis, Microphthalmia	OMIM:308350
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Peters anomaly, Cryptorchidism, Astigmatism, Broad eyebrow, Microphthalmia, Iris col...	ORPHA:494344
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer...	ORPHA:85450
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Ciliary Dyskinesia, Primary, 15	Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Cryptorchidism, Delayed puberty, Corneal opacity, Optic nerve hypoplasia	ORPHA:496790
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Cryptorchidism, Microphthalmia, Vaginal atresia, Septo-optic dysplasia, Ir...	ORPHA:3301
Histiocytoid Cardiomyopathy	Megalocornea, Congenital aphakia, Polycystic ovaries, Corneal opacity, Microphthalmia	ORPHA:137675
Achromatopsia 3	Cataract	OMIM:262300
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Cryptorchidism	OMIM:300578
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Sparse eyebrow, Polymicrogyria, Unilateral microphthalmos, Alopecia of scalp, Spar...	OMIM:618874
Ciliary Dyskinesia, Primary, 22	Infertility, Absent inner and outer dynein arms, Reduced sperm motility	OMIM:615444
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Shallow anterior chamber, Microphthalmia	OMIM:267760
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Moebius Syndrome	Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia	OMIM:157900
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract, Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cataract, Hypogonadism, Abnormality of the thyroid gland, Premature ovarian insufficiency, Diabet...	OMIM:609286
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor...	ORPHA:1772
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Galactosemia I	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract	OMIM:230400
Linear Skin Defects With Multiple Congenital Anomalies 1	Iris coloboma, Clitoral hypertrophy, Cataract, Peters anomaly, Ovotestis, Chordee, Sclerocornea, ...	OMIM:309801
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Microphthalmia, Cryptorchidism, Corneal opacity, Sclerocornea, H...	ORPHA:284160
Full Schwannomatosis	Cataract, Neoplasm of the anterior pituitary, Uterine leiomyoma	ORPHA:93921
Martsolf Syndrome 1	Cataract, Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypogonadotropic hypogon...	OMIM:212720
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Subcortical band heterotopia, Focal polymicrogyria, Microphthalmia	OMIM:615771
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity, Microphthalmia, Simplifi...	OMIM:152950
Bosma Arhinia Microphthalmia Syndrome	Cataract, Microphthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora...	OMIM:603457
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Nail dystrophy	OMIM:613987
Leber Congenital Amaurosis 8	Cataract, Keratoconus	OMIM:613835
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Scler...	OMIM:206900
Encephalocraniocutaneous Lipomatosis	Alopecia, Hypoplasia of the iris, Cryptorchidism, Microphthalmia, Sclerocornea, Limbal dermoid	OMIM:613001
Congenital Rubella Syndrome	Cataract, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Corneal opacity, Microphthalmia	ORPHA:290
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula...	OMIM:101000
Microcephaly 20, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Microphthalmia, Vaginal atresia, Hypoplasia of the ...	OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Developmental cataract, Microphthalmia	OMIM:613155
Triploidy	Hypospadias, Cataract, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis, Iris coloboma, A...	ORPHA:3376
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty...	ORPHA:91
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Fine hair, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Spars...	ORPHA:1806
Fanconi Anemia, Complementation Group S	Long eyelashes, Ovarian carcinoma, Low anterior hairline, Microphthalmia, Sparse hair, Ovarian ne...	OMIM:617883
Phace Syndrome	Cataract, Ectopic thyroid, Heterochromia iridis, Hypothyroidism, Microphthalmia, Sclerocornea, Le...	ORPHA:42775
Seckel Syndrome 2	Hypospadias, Microphthalmia	OMIM:606744
Monilethrix	Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai...	ORPHA:573
Weill-Marchesani Syndrome 1	Cataract, Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:277600
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level	OMIM:146200
Autoimmune Polyendocrinopathy Type 1	Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ...	ORPHA:3453
Matthew-Wood Syndrome	Annular pancreas, Abnormality of the uterus, Anophthalmia, Cryptorchidism, Microphthalmia, Aplasi...	ORPHA:2470
Congenital Bile Acid Synthesis Defect Type 4	Hypogonadism, Cataract, Cholelithiasis, Type II diabetes mellitus	ORPHA:79095
Cat-Eye Syndrome	Iris coloboma, Microphthalmia	ORPHA:195
Wagro Syndrome	Cataract, Hypoplastic female external genitalia, Decreased testicular size, Aniridia, Corneal opa...	OMIM:612469
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen...	ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Microphthalmia	OMIM:614830
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Adams-Oliver Syndrome 2	Alopecia, Polymicrogyria, Low anterior hairline, Developmental cataract, Microphthalmia	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Peters anomaly, Megalocornea, Type II lissencephaly, Polymicrogyria, Pachygyria, Crypto...	OMIM:236670
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Bardet-Biedl Syndrome 9	Irregular menstruation, Cataract, Astigmatism	OMIM:615986
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Oligozoospermia, Sparse hair, Diabetes mellitus, Clitoral hypoplasia	OMIM:614813
Microphthalmia, Lenz Type	Hypospadias, Microcornea, Cataract, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:568
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cataract, Polymicrogyria, Hypertrichosis	OMIM:612379
Rodrigues Blindness	Microcornea, Fine hair, Microphthalmia, Sclerocornea, Sparse hair	OMIM:268320
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Hydrolethalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2189
Ritscher-Schinzel Syndrome 3	Periventricular nodular heterotopia, Highly arched eyebrow, Cryptorchidism, Microphthalmia	OMIM:619135
Manitoba Oculotrichoanal Syndrome	Abnormality of the hairline, Anophthalmia, Microphthalmia, Vaginal atresia, Corneopalpebral synec...	OMIM:248450
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Clitoral hypertrophy, Microphthalmia, Sparse hair, Hypospadias	OMIM:616449
Pseudohypoparathyroidism, Type Ic	Cataract, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulatin...	OMIM:612462
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Cataract, Bifid scrotum, Cryptorchidism, Hypothyroidism, Hypoplasia of penis	ORPHA:85321
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
8P11.2 Deletion Syndrome	Microcornea, Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia...	ORPHA:251066
19Q13.11 Microdeletion Syndrome	Cataract, Microcornea, Sparse lateral eyebrow, Bifid scrotum, Supernumerary nipple, Fine hair, Sp...	ORPHA:217346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Type II lissencephaly, Microphthalmia, Agyria, Lissencephaly	OMIM:615249
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:1791
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Megalocornea, Type II lissencephaly, Polymicrogyria, Micro...	ORPHA:370959
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Horizontal eyebrow, Bilateral microphthalmos, Frontal upsweep of hair, Cryptorchidism, Low anteri...	ORPHA:369891
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentra...	ORPHA:2238
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Highly arched eyebrow, Cataract, Frontal balding, Nuclear pulverulent cataract, Long lower eyelas...	OMIM:612474
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Harrod Syndrome	Cataract, Hypospadias, Cryptorchidism	ORPHA:2115
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Lissencephaly, Microphthalmia	ORPHA:1528
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Sparse hair, Periventricular heterotopia, Microphthalmia	OMIM:614105
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,...	OMIM:608328
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Frontonasal Dysplasia 1	Cataract, Widow's peak, Microphthalmia	OMIM:136760
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Cryptorchidism, Sclerocornea, Microphthalmia, Micropenis	OMIM:614230
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Polymicrogyria, Cryptorchidism, Microphthalmia	OMIM:618494
Gracile Bone Dysplasia	Micropenis, Aniridia, Microphthalmia	OMIM:602361
Temtamy Syndrome	Highly arched eyebrow, Ectopia lentis, Microphthalmia, Iris coloboma, Lens luxation	OMIM:218340
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Microphthalmia	OMIM:618805
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Temtamy Syndrome	Iris coloboma, Microphthalmia	ORPHA:1777
Cowden Syndrome 6	Varicocele, Thyroid adenoma, Cataract, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hyd...	OMIM:615109
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Lissencephaly, Microphthalmia	OMIM:218670
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio...	ORPHA:67036
Pseudohypoparathyroidism, Type Ia	Cataract, Elevated circulating parathyroid hormone level, Hypogonadism, Pseudohypoparathyroidism,...	OMIM:103580
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Premature Aging Syndrome, Okamoto Type	Cataract, Diabetes mellitus	OMIM:601811
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Cataract, Cryptorchidism	OMIM:224410
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape, Cataract, Clitoral hypertrophy, Ambiguous genitalia	ORPHA:543470
Cowden Syndrome 5	Cataract, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testi...	OMIM:615108
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia	ORPHA:231736
Werner Syndrome	Hypogonadism, Cataract, Alopecia of scalp, Diabetes mellitus	OMIM:277700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus...	ORPHA:300298
Fanconi Anemia, Complementation Group A	Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility, Microphthalmia	OMIM:227650
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Cataract, Decreased pineal volume	OMIM:301108
Baraitser-Winter Syndrome 2	Pachygyria, Highly arched eyebrow, Lissencephaly, Microphthalmia	OMIM:614583
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Highly arched eyebrow, Cryptorchidism, Low anterior hairline	ORPHA:404440
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid...	OMIM:241410
Bloom Syndrome	Azoospermia, Sparse eyelashes, Patchy alopecia, Oligozoospermia, Premature ovarian insufficiency,...	ORPHA:125
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Cryptorchidism	OMIM:620327
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Foot dorsiflexor weakness, Cortical cataract, Remnants of the hya...	ORPHA:637
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium	OMIM:619339
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Sparse eyebrow, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Micr...	ORPHA:2399
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Phthisis bu...	ORPHA:91495
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Cryptorchidism, Microphthalmia	ORPHA:2728
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Sandestig-Stefanova Syndrome	Highly arched eyebrow, Sparse medial eyebrow, Developmental cataract, Microphthalmia, Laterally e...	OMIM:618804
Proteus-Like Syndrome	Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Po...	ORPHA:2969
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Abnormal cornea morphology, Male infertility	OMIM:244400
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Abnormal eyelash morphology, Anophthalmia, Microphthalmia	OMIM:206920
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased...	ORPHA:3464
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polymicrogyria, Microphthalmia	OMIM:602501
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyebrow, Coarse hair, Microcornea, Sparse eyelashes, Patchy alopecia, Abnormal h...	ORPHA:35173
Sponastrime Dysplasia	Precocious puberty, Cataract, Hypothyroidism, Microcoria, Congenital aphakia, Hypospadias	ORPHA:93357
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Nail dystrophy, Microphthalmia	OMIM:300887
Meckel Syndrome	Cataract, Microcornea, Cryptorchidism, Aplasia/Hypoplasia of the iris, True hermaphroditism, Anop...	ORPHA:564
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Cryptorchidism, Sparse eyelashes, Hypothyroidism, Dev...	ORPHA:2108
Knobloch Syndrome 1	Band keratopathy, Iris transillumination defect, Cortical cataract, Developmental cataract, Lens ...	OMIM:267750
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Cataract, Microcornea, Microphthalmia	OMIM:617306
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Cataract	OMIM:247410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Polymicrogyria, Type II lissencephaly, Microphthalmia, Pachygyria, Subc...	OMIM:614643
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Male infertility	ORPHA:244
Cohen Syndrome	Long eyelashes, Thick eyebrow, Cryptorchidism, Low anterior hairline, Delayed puberty, Thick hair...	ORPHA:193
Microphthalmia/Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:615145
Marden-Walker Syndrome	Micropenis, Hypospadias, Cryptorchidism, Microphthalmia	OMIM:248700
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Bilateral cryptorchidism, Alopecia totalis, Sparse eyelashes, Micropht...	OMIM:613451
Vacterl With Hydrocephalus	Microcornea, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology, Microphthalmia	ORPHA:3412
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Sparse eyebrow, Cryptorchidism, Supernumerary nipple	OMIM:612530
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Microcornea, Cataract, Ectopia lentis, Microphthalmia, Iris coloboma	ORPHA:2712
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell...	OMIM:603903
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Microphthalmia	ORPHA:65286
1Q21.1 Microdeletion Syndrome	Cataract, Iris coloboma, Cryptorchidism, Microphthalmia	ORPHA:250989
Ifap Syndrome 2	Cataract, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Jacobsen Syndrome	Iris coloboma, Microcornea, Annular pancreas, Cryptorchidism, Macular hypoplasia, Labial hypoplas...	OMIM:147791
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Facial hirsutism, Ambiguous genitalia, Iris coloboma	ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Polymicrogyria, Microphthalmia, Buphthalmos, Agyria	OMIM:616538
Congenital Fibrosis Of Extraocular Muscles	Cataract, Polymicrogyria, Abnormal pupil shape, Hypogonadotropic hypogonadism, Anisocoria, Optic ...	ORPHA:45358
Bartsocas-Papas Syndrome 1	Axillary pterygium, Absent external genitalia, Alopecia, Popliteal pterygium, Bilateral cryptorch...	OMIM:263650
Fanconi Anemia	Cataract, Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism...	ORPHA:84
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Fanconi Anemia, Complementation Group E	Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia	OMIM:600901
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop...	ORPHA:99776
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse eyebrow, Cholelithiasis, Microcornea, Male urethral meatus stenosis, Developmental catarac...	ORPHA:464738
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Hallermann-Streiff Syndrome	Cataract, Sparse eyebrow, Fine hair, Cryptorchidism, Sparse eyelashes, Microphthalmia, Sparse hai...	OMIM:234100
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Treacher-Collins Syndrome	Small scrotum, Iris coloboma, Cataract, Abnormal hair morphology, Cryptorchidism, Low anterior ha...	ORPHA:861
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:163649
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Sparse eyebrow, Widow's peak, Microphthalmia	OMIM:167730
Pseudotrisomy 13 Syndrome	Polymicrogyria, Cryptorchidism, Adrenal hypoplasia, Microphthalmia, Micropenis, Bicornuate uterus	OMIM:264480
Incontinentia Pigmenti	Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea...	OMIM:308300
Monosomy 18P	Low posterior hairline, Alopecia, Hypothyroidism, Microphthalmia	ORPHA:1598
Cousin Syndrome	Microcornea, Ambiguous genitalia, female, Facial hirsutism, Low anterior hairline, Ambiguous geni...	OMIM:260660
Fryns Syndrome	Cryptorchidism, Corneal opacity, Microphthalmia, Bicornuate uterus, Hypospadias	ORPHA:2059
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne...	OMIM:601552
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl...	ORPHA:263479
Frontorhiny	Cataract, Hypopituitarism, Microphthalmia, Diabetes insipidus, Iris coloboma, Widow's peak	ORPHA:391474
Ohdo Syndrome, X-Linked	Small scrotum, Sparse eyebrow, High anterior hairline, Cryptorchidism, Shawl scrotum, Microphthal...	OMIM:300895
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Fine hair, Persistent pupillary membrane, Sparse eyelashes, Microphthalmia...	OMIM:257850
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
2Q31.1 Microdeletion Syndrome	Abnormal hair morphology, Cryptorchidism, Low anterior hairline, Microphthalmia, Iris coloboma, A...	ORPHA:251014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Type II lissencephaly, Microphthalmia, Pachygyria, Buphthalmos, Persist...	OMIM:613150
Mosaic Trisomy 1	Polymicrogyria, Penile hypospadias, Microphthalmia, Micropenis, Opacification of the corneal stroma	ORPHA:1692
Trisomy 18	Cataract, Microcornea, Abnormal morphology of female internal genitalia, Cryptorchidism, Micropht...	ORPHA:3380
Progeroid Short Stature With Pigmented Nevi	Cataract, Allergic conjunctivitis, Chordee, Delayed puberty, Premature ovarian insufficiency, Hyp...	OMIM:176690
3Q29 Microduplication Syndrome	Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:251038
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Ectopia pupillae, Astigmatism, Scarring alopecia of scalp, Microphthalmia	OMIM:618727
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Microphthalmia	OMIM:169550
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Microphthalmia, Hypospadias	OMIM:619148
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Horizontal eyebrow, Astigmatism, Microphthalmia	OMIM:618571
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria, Optic nerve hypoplasia, Lissencephaly, Microphthalmia	OMIM:614833
Tetraamelia Syndrome 1	Cataract, Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Hyp...	OMIM:273395
Neuroocular Syndrome 1	Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Micro...	OMIM:619539
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Astigmatism, Hypothyroidism, Microphthalmi...	OMIM:609053
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Curry-Jones Syndrome	Generalized hirsutism, Iris coloboma, Microphthalmia	ORPHA:1553
Marfan Syndrome	Cataract, Microspherophakia, Ectopia lentis, Hypoplasia of the iris, Astigmatism	OMIM:154700
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj...	OMIM:278730
Dubowitz Syndrome	Iris coloboma, Sparse lateral eyebrow, Megalocornea, Hypoplasia of the iris, Cryptorchidism, Micr...	OMIM:223370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Polymicrogyria, Type II lissencephaly, Microphthalmia, Pachygyria, Agyria, Lissencephaly	OMIM:253800
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Microphthalmia, Thyroid hypoplasia, Hypo...	ORPHA:2166
Fanconi Anemia, Complementation Group C	Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia	OMIM:227645
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallus, Microphthalmia	OMIM:603467
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Microphthalmia, Anophthalmia, Male pseudohermaph...	ORPHA:2556
Refsum Disease	Cataract, Microphthalmia	ORPHA:773
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes	OMIM:613456
Trichothiodystrophy	Microcornea, Bilateral microphthalmos, Gonadal dysgenesis, Tiger tail banding, Alopecia of scalp,...	ORPHA:33364
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Aicardi Syndrome	Precocious puberty, Cataract, Sparse lateral eyebrow, Polymicrogyria, Microphthalmia, Pachygyria,...	OMIM:304050
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Microphthalmia	OMIM:614526
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Hyperparathyroidism, Cataract, Abnormal circulating calcium-phosphate regulating hor...	ORPHA:534
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma, Optic nerve h...	OMIM:243605
Proboscis Lateralis	Cataract, Microcornea, Abnormal eyebrow morphology, External genital hypoplasia, Anophthalmia, Ab...	ORPHA:141099
Familial Exudative Vitreoretinopathy	Cataract, Microphthalmia	ORPHA:891
Subaortic Stenosis-Short Stature Syndrome	Type II diabetes mellitus, Microphthalmia	ORPHA:3191
Steinert Myotonic Dystrophy	Hyperinsulinemia, Decreased fertility, Pelvic girdle muscle weakness, Secondary hyperparathyroidi...	ORPHA:273
Roberts Syndrome	Cataract, Clitoral hypertrophy, Long penis, Cryptorchidism, Microphthalmia, Sparse hair	ORPHA:3103
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Cockayne Syndrome B	Microcornea, Dry hair, Hypoplasia of the iris, Abnormal hair morphology, Opacification of the cor...	OMIM:133540
Mosaic Variegated Aneuploidy Syndrome	Cataract, Vaginal neoplasm, Hypothyroidism, Ambiguous genitalia, Corneal opacity, Microphthalmia	ORPHA:1052
Microphthalmia/Coloboma 12	Optic nerve aplasia, Peters anomaly, Microphthalmia, Corneal opacity	OMIM:120200
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Exudative Vitreoretinopathy 2, X-Linked	Shallow anterior chamber, Microphthalmia	OMIM:305390
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Decreased testicular size, Abnormal circulating follicle-stimulating ho...	ORPHA:93325
Adams-Oliver Syndrome	Cataract, Alopecia, Sparse hair, Microphthalmia	ORPHA:974
Coccidioidomycosis	Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the endocrine syst...	ORPHA:228123
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyebrow, Sparse eyelashes, Patchy alopecia, Microphthalmia, Sparse hair	OMIM:302960
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys	ORPHA:261272
Mend Syndrome	Cataract, Cryptorchidism, Microphthalmia	ORPHA:401973
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia, Microphthalmia	OMIM:619879
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Cryptorchidism, Hypothyroidism, Microphthalmia, Sparse hair	OMIM:620005
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Holoprosencephaly	Highly arched eyebrow, Iris coloboma, Panhypopituitarism, Thick eyebrow, Cryptorchidism, Anophtha...	ORPHA:2162
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Microcornea, Cryptorchidism, Low anterior hairline, Microphthalmia, Hypospadias, S...	OMIM:616734
Myoclonic-Astatic Epilepsy	Frontal balding, Microphthalmia	ORPHA:1942
Basal Cell Nevus Syndrome 1	Cataract, Ovarian carcinoma, Ovarian fibroma, Microphthalmia, Iris coloboma	OMIM:109400
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Camptodactyly of finger, Corneal scarring, Cryptorchidism, Dense p...	OMIM:309000
Renpenning Syndrome 1	Cataract, Sparse lateral eyebrow, Decreased testicular size, Phimosis, Brittle hair, Microphthalm...	OMIM:309500
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma	OMIM:613884
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Cataract, Band keratopathy, Primary adrenal insufficiency, Type II diabetes mellitus, Ke...	OMIM:269200
Joubert Syndrome 2	Hypoplastic male external genitalia, Microphthalmia	OMIM:608091
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus, Ambiguous genitalia, Low anterior hairline	OMIM:617666
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Ambiguous genitalia, Cryptorchidism, Microphthalmia	OMIM:616300
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Sparse eyebrow, High anterior hairline, Supernumerary nipple, Thick eyebrow, Microphthalmia, Syno...	OMIM:620098
Monosomy 9Q22.3	Cataract, Ovarian fibroma, Microphthalmia	ORPHA:77301
Phace Association	Congenital hypothyroidism, Lingual thyroid, Developmental cataract, Microphthalmia, Optic nerve h...	OMIM:606519
Fanconi Anemia, Complementation Group D2	Annular pancreas, Cryptorchidism, Microphthalmia, Micropenis, Hypergonadotropic hypogonadism	OMIM:227646
Tetrasomy 9P	Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infe...	ORPHA:3310
Skin Creases, Congenital Symmetric Circumferential, 1	Hypoplastic nipples, Microcornea, Microphthalmia	OMIM:156610
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Deafness, X-Linked 7	Unilateral microphthalmos, Thick eyebrow	OMIM:301018
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Pallister-Hall Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s...	OMIM:146510
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe...	OMIM:137920
Microphthalmia, Syndromic 2	Iris coloboma, Microcornea, Septate vagina, Thick eyebrow, Adrenal insufficiency, Cryptorchidism,...	OMIM:300166
Incontinentia Pigmenti	Cataract, Alopecia, Keratitis, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology...	ORPHA:464
Fryns Syndrome	Ectopic pancreatic tissue, Bifid scrotum, Facial hirsutism, Opacification of the corneal stroma, ...	OMIM:229850
Cockayne Syndrome	Lentiglobus, Cataract, Dry hair, Band keratopathy, Abnormal cornea morphology, Fine hair, Absence...	ORPHA:191
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Peters anomaly, Cryptorchidism, Broad eyebrow, Microphthalmia, Hypospadias, Wid...	OMIM:616975
Monosomy 9P	Highly arched eyebrow, Thick eyebrow, Cryptorchidism, Low posterior hairline, Ambiguous genitalia...	ORPHA:261112
Aicardi Syndrome	Precocious puberty, Sparse lateral eyebrow, Polymicrogyria, Delayed puberty, Microphthalmia, Pach...	ORPHA:50
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Abnormality of neuronal migration, Microphthalmia, Pachygyria, ...	OMIM:251300
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Myhre Syndrome	Cataract, Fine hair, Thick eyebrow, Cryptorchidism, Microphthalmia, Sparse hair	OMIM:139210
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Oculodentodigital Dysplasia	Cataract, Microcornea, Dry hair, Fine hair, Slow-growing hair, Microphthalmia, Sparse hair	OMIM:164200
Garg-Mishra Progeroid Syndrome	Sparse hair, Microphthalmia	OMIM:620601
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Iris coloboma, Sparse eyebrow, Absent nipple, Congenital hypothyroidism, Nail dystrophy, Hypoplas...	OMIM:620186
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility	ORPHA:730
Yunis-Varon Syndrome	Cataract, Clitoral hypertrophy, Sparse eyebrow, Bilateral microphthalmos, Pachygyria, Cryptorchid...	ORPHA:3472
Curry-Jones Syndrome	High anterior hairline, Polymicrogyria, Hirsutism, Microphthalmia, Iris coloboma	OMIM:601707
Microphthalmia, Syndromic 6	Small scrotum, Microcornea, Anterior hypopituitarism, Cryptorchidism, Anophthalmia, Hypothyroidis...	OMIM:607932
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Abnormal hair morphology, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Oculopalatocerebral Syndrome	Leukocoria, Microphthalmia	OMIM:257910
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601186
Lymphedema-Distichiasis Syndrome	Yellow nails, Recurrent corneal erosions, Distichiasis, Microphthalmia, Conjunctivitis, Corneal u...	OMIM:153400
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Hypospadias,...	ORPHA:3063
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Corneal stromal edema, Corneal op...	OMIM:601812
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microphallus, Bilateral microphthalmos, Polymicrogyria, Simplified gyral pattern, Periventricular...	ORPHA:468631
Microgastria-Limb Reduction Defect Syndrome	Abnormal cortical gyration, Anophthalmia, Perineal fistula, Microphthalmia, Rectovaginal fistula	ORPHA:2538
Meckel Syndrome, Type 5	Bile duct proliferation, Microphthalmia	OMIM:611561
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Sclerocornea, Microphthalmia	OMIM:300952
Charge Syndrome	Highly arched eyebrow, Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorch...	ORPHA:138
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Microphthalmia, Corneal opacity, Ectopia pupillae	ORPHA:85167
Focal Dermal Hypoplasia	Alopecia, Ectopia lentis, Hypoplasia of the iris, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:2092
Papillorenal Syndrome	Cataract, Lens luxation, Microphthalmia	OMIM:120330
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Septate vagina, Absent gallbladder, Low posterior hairline, Microphthalmia, Mic...	OMIM:617925
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Bifid scrotum, Cryptorchidism, Antecubital pterygium, Microphthalmia, Microp...	OMIM:609945
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Microphthalmia	ORPHA:2714
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hypogonadism, Cataract, Synophrys, Bilateral cryptorchidism	ORPHA:3042
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Fetal Alcohol Syndrome	Generalized hirsutism, Microphthalmia	ORPHA:1915
Linear Nevus Sebaceus Syndrome	Microphthalmia, Alopecia, Iris coloboma, Adenoma sebaceum	ORPHA:2612
Atelis Syndrome 2	Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Developmental c...	OMIM:620185
Cerebrooculofacioskeletal Syndrome 4	Simplified gyral pattern, Bilateral microphthalmos, Polymicrogyria	OMIM:610758
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Hypertrichosis, Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:508498
Adams-Oliver Syndrome 1	Imperforate hymen, Alopecia, Polymicrogyria, Supernumerary nipple, Microphthalmia, Pachygyria	OMIM:100300
Fraser Syndrome 1	Clitoral hypertrophy, Abnormal cortical gyration, Bilateral microphthalmos, Extension of hair gro...	OMIM:219000
Duane-Radial Ray Syndrome	Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Focal Dermal Hypoplasia	Ectopia lentis, Supernumerary nipple, Aniridia, Nail dystrophy, Cryptorchidism, Anophthalmia, Hyp...	OMIM:305600
Charge Syndrome	Cataract, Iris coloboma, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased resp...	OMIM:214800
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus, Microphthalmia	OMIM:614083
Neu-Laxova Syndrome 1	Cataract, Pterygium, Cryptorchidism, Absent eyelashes, Microphthalmia, Bifid uterus, Lissencephaly	OMIM:256520
Townes-Brocks Syndrome	Iris coloboma, Cataract, Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Li...	ORPHA:857
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Coarse hair, Hypertrichosis, Periventricular heterotopia, Cryptorch...	OMIM:612289
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Microphthalmia, Corneal opacity, Ectopia pupillae	OMIM:608940
Meckel Syndrome, Type 1	Abnormality of the uterus, Ambiguous genitalia, female, External genital hypoplasia, Cryptorchidi...	OMIM:249000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma, Supernumerary nipple	ORPHA:1236
Meckel Syndrome, Type 2	Bile duct proliferation, Microphthalmia	OMIM:603194
Joubert Syndrome 14	Highly arched eyebrow, Microphthalmia	OMIM:614424
Mowat-Wilson Syndrome	Iris coloboma, Microcornea, Cataract, Bifid scrotum, Supernumerary nipple, Ectopia pupillae, Cryp...	OMIM:235730
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Developmental cataract, Microphthalmia	OMIM:127000
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Dry hair, Premature graying of hair, Keratoconjunctivitis sic...	ORPHA:90324
Degcags Syndrome	Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphology, Long eyelashes, Cryptorch...	OMIM:619488
22Q11.2 Deletion Syndrome	Cataract, Cholelithiasis, Abnormality of the uterus, Cryptorchidism, Corneal neovascularization, ...	ORPHA:567
Holoprosencephaly 9	Anterior pituitary agenesis, Abnormal cortical gyration, Decreased response to growth hormone sti...	OMIM:610829
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Meckel Syndrome, Type 4	Bile duct proliferation, Microphthalmia	OMIM:611134
Oculotrichoanal Syndrome	Abnormal hair pattern, Anophthalmia, Microphthalmia	ORPHA:2717
Acrofrontofacionasal Dysostosis 1	Long eyelashes, Iris atrophy, Microphthalmia, Long eyebrows, Widow's peak	OMIM:201180
Witteveen-Kolk Syndrome	Cataract, High anterior hairline, Iris coloboma, Male urethral meatus stenosis, Microphallus, Fin...	OMIM:613406
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Thin eyebrow, Corneal opacity, Synophrys	ORPHA:364577
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Alström Syndrome	Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hyperinsulinemia, T...	ORPHA:64
Cystinosis, Nephropathic	Male hypogonadism, Corneal crystals, Primary hypothyroidism, Recurrent corneal erosions, Delayed ...	OMIM:219800
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, True anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:1106
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Optic disc hypoplasia, Microphthalmia, Iris coloboma	ORPHA:959
Frontofacionasal Dysplasia	Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma	OMIM:229400
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha...	ORPHA:2052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Megalocornea, Type II lissencephaly, Polymicrogyria, Hypoplasia of the retina, Micropht...	OMIM:253280
Branchiooculofacial Syndrome	Iris coloboma, Cataract, Supernumerary nipple, Premature graying of hair, Ectopic thymus tissue, ...	OMIM:113620
Galloway-Mowat Syndrome 3	Pachygyria, Simplified gyral pattern, Lissencephaly, Microphthalmia	OMIM:617729
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Abnormal hair morphology, Leukonychia, Anophthalmia, Melanonychia, Microphthalmia, Abno...	ORPHA:2526
Treacher Collins Syndrome 1	Preauricular hair displacement, Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland ...	OMIM:154500
Pallister-Hall Syndrome	Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ...	ORPHA:672
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Osteoporosis-Pseudoglioma Syndrome	Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Microcephaly-Micromelia Syndrome	Simplified gyral pattern, Microphthalmia	OMIM:251230
Teebi-Shaltout Syndrome	Highly arched eyebrow, Low anterior hairline, Slow-growing hair, Microphthalmia, Sparse hair	OMIM:272950
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Abnormal vagina morphology, Gray matter heterotopia, Adrenal gland dy...	OMIM:236680
Roberts-Sc Phocomelia Syndrome	Sparse hair, Cataract, Clitoral hypertrophy, Long penis, Enlarged labia minora, Opacification of ...	OMIM:268300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Sparse eyebrow, Sparse eyelashes, Microphthalmia, Widow's peak	ORPHA:306542
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Iris coloboma, Absent gallbladder, Microphthalmia	ORPHA:3186
Steinfeld Syndrome	Iris coloboma, Absent gallbladder, Microphthalmia	OMIM:184705
Cat Eye Syndrome	Iris coloboma, Microphthalmia	OMIM:115470
Monosomy 13Q14	Cataract, Iris coloboma, Microphthalmia	ORPHA:1587
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Holoprosencephaly 1	Micropenis, Diabetes insipidus, Adrenal hypoplasia, Microphthalmia	OMIM:236100
Mycophenolate Mofetil Embryopathy	Iris coloboma, Microphthalmia	ORPHA:268249
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Ectopia pupillae, Cryptorchidism, Axenfeld anomaly, Chordee, Microphthalmia, Iris coloboma, Hypos...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Cataract, Iris coloboma, Bifid scrotum, Polymicrogyria, Septate vagina, Periventric...	ORPHA:261537
Cystic Fibrosis	Absent vas deferens, Male infertility	ORPHA:586
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P...	OMIM:175780
Holoprosencephaly 7	Bilateral microphthalmos, Panhypopituitarism, Microphthalmia, Iris coloboma, Synophrys	OMIM:610828
Mowat-Wilson Syndrome	Webbed penis, Cataract, Iris coloboma, Horizontal eyebrow, Bifid scrotum, Polymicrogyria, Septate...	ORPHA:2152
Noonan Syndrome 1	Hypogonadism, Cryptorchidism, Low posterior hairline, Woolly hair, Hypospadias, Male infertility	OMIM:163950
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Thin eyebrow, Corneal opacity, Synophrys	OMIM:608670
Cystic Fibrosis	Male infertility	OMIM:219700
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Microphthalmia, Syndromic 1	Hypospadias, Microcornea, Ciliary body coloboma, Cryptorchidism, Anophthalmia, Microphthalmia, Ir...	OMIM:309800
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Holoprosencephaly 2	Anterior pituitary agenesis, Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Iris coloboma	OMIM:157170
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Highly arched eyebrow, Bilateral microphthalmos, Long eyelashes, Thi...	ORPHA:508488
Craniofacial Microsomia 1	Limbal dermoid, Anophthalmia, Microphthalmia	OMIM:164210

Histopathology

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

There is no histopathology data for Tbc1d20

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Tbc1d20.

No publications found that use IMPC mice or data for Tbc1d20.

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

MGI Allele	Allele Type	Produced
Tbc1d20^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

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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