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Gene: Tbc1d20 MGI:1914481

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Gene Summary

Name:
TBC1 domain family, member 20
Synonyms:
1110028I04Rik,  bs,  2810442O16Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Tbc1d20em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Tbc1d20em1(IMPC)Mbp HET Early adult 0.00
increased heart weight Tbc1d20em1(IMPC)Mbp HET Early adult 4.34×10-05
increased red blood cell distribution width Tbc1d20em1(IMPC)Mbp HET Early adult 3.84×10-05
hemorrhage Tbc1d20em1(IMPC)Mbp HET E18.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

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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.

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, Cryptorchidism, Perisylvian polymicrogyria, Low anterior hairline, Developmental c... OMIM:615663
Micro Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic labia minora, Microcornea, Clitoral hy... ORPHA:2510

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
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, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Nondisjunction
Decreased fertility OMIM:158250
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism ORPHA:1381
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
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
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... OMIM:615631
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
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
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism, Developmental cataract ORPHA:1383
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Microphthalmia ORPHA:363741
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Nathalie Syndrome
Cataract ORPHA:2663
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular si... ORPHA:320391
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Ethanolaminosis
Cardiomegaly OMIM:227150
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Hypogonadism, Cryptorchidism OMIM:601794
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
X-Linked Retinoschisis
Cataract ORPHA:792
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Congenital Primary Aphakia
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Trichomegaly
Cataract OMIM:190330
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, ... OMIM:616860
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Leukoencephalopathy With Vanishing White Matter 2
Premature ovarian insufficiency, Secondary amenorrhea, Cataract OMIM:620312
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Cataract ORPHA:2278
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Galactosemia Iv
Cataract OMIM:618881
Dysequilibrium Syndrome
Cataract ORPHA:1766
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:250994
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract, Cryptorchidism OMIM:613730
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Perisylvian polymicrogyria, Developmental cataract, ... OMIM:600118
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Cryptorchidism OMIM:601349
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Galactosemia Ii
Cataract OMIM:230200
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... ORPHA:2410
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Absent eyelashes, Nail dystrophy, Sparse hair, M... OMIM:618625
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Spondylo-Ocular Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Cofs Syndrome
Microphthalmia, Cataract, Hypogonadism ORPHA:1466
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Oculocerebrocutaneous Syndrome
Alopecia, Anophthalmia, Cryptorchidism, Gray matter heterotopia, Microphthalmia OMIM:164180
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... OMIM:610125
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Abnormality of... ORPHA:139471
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Microcornea, Long eyelashes, Microphthalmia ORPHA:48431
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Nathalie Syndrome
Cataract OMIM:255990
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Morm Syndrome
Micropenis, Cataract ORPHA:75858
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Peroxisome Biogenesis Disorder 14B
Hydrocele testis, Developmental cataract OMIM:614920
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Pierpont Syndrome
Abnormal cortical gyration, Cryptorchidism, Microcornea, Microphthalmia, High anterior hairline ORPHA:487825
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Developmental cataract OMIM:619420
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, External genital hypoplasia, Congenital abnormal hair patter... ORPHA:1867
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Wilson-Turner Syndrome
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism ORPHA:3459
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Perisylvian polymicrogyria, Low anterior hairline, Developmental c... OMIM:615663
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Type II diabetes mellitus, Displacement of the ure... ORPHA:2377
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea,... ORPHA:3085
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Sparse hair, Microphthalmia, Micropenis OMIM:610756
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Corneal opacity, Cataract, Abnormal hair morphology, Abnormal testis... ORPHA:317
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Myotonic Dystrophy 1
Cataract, Frontal balding, Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Retinitis Pigmentosa
Keratoconus, Hypoplasia of penis, Cataract, Hyperinsulinemia, Hypogonadism, Type II diabetes mell... ORPHA:791
Warburg Micro Syndrome 3
Small scrotum, Cataract, Hypoplastic labia minora, Low anterior hairline, Developmental cataract,... OMIM:614222
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Myotonic Dystrophy 2
Frontal balding, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligo... OMIM:602668
Bresek Syndrome
Alopecia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Iris coloboma, Decreased testic... ORPHA:85284
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Low anterior hairline, Developmental cataract, Hypoplast... OMIM:614225
Craniolenticulosutural Dysplasia
Brittle hair, Cryptorchidism, Punctate cataract, Coarse hair, Posterior Y-sutural cataract, Spars... OMIM:607812
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Pierpont Syndrome
Cryptorchidism, High anterior hairline, Microcornea, Microphthalmia, Micropenis OMIM:602342
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Cataract ORPHA:2772
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308750
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Periventricular heterotopia, Simplified gyral pattern, Microcornea, Microphthalmia OMIM:616171
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Trichothiodystrophy 3, Photosensitive
Cataract, Brittle hair, Bilateral cryptorchidism, Developmental cataract, Microphthalmia, Tiger t... OMIM:616395
Retinitis Pigmentosa 40
Cataract OMIM:613801
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Peters anomaly OMIM:618652
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Cataract 47
Microcornea, Cataract OMIM:612018
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:77298
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Developmental cataract, Microphthalmia, Micropenis, Decreased testicula... ORPHA:335
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Cataract ORPHA:93267
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract ORPHA:523
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalm... ORPHA:2505
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular at... OMIM:235200
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Woolly hair, Decreased fertility, Mi... OMIM:234050
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Micro Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic labia minora, Microcornea, Clitoral hy... ORPHA:2510
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma ORPHA:2791
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Abnormal cortical gyration, Cryptor... ORPHA:899
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Polymicrogyria, Low posterior hairline, Hypoplastic labia majora, Micro... OMIM:244300
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Joubert Syndrome 37
Cryptorchidism, Sparse hair, Microphthalmia, Micropenis, Decreased testicular size OMIM:619185
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Cataract OMIM:618958
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Microphthalmia ORPHA:228390
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
Senior-Loken Syndrome
Premature ovarian insufficiency, Cataract ORPHA:3156
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism, Low posterior hairline ORPHA:1387
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Type II lissencephaly, Developmental cataract ORPHA:324416
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Hypogonadism OMIM:302950
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Hypergonadotropic hypogonadism OMIM:614307
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos OMIM:611638
Pellagra-Like Syndrome
Cataract OMIM:260650
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Cataract ORPHA:3173
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation ORPHA:485
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract, Hirsutism, Cryptorchidism OMIM:214150
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, Hypogonadism, Sparse hair, Decrease... ORPHA:127
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Reduced sperm motility OMIM:615434
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... ORPHA:649
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Lissencephaly, Microphthalmia, Mic... OMIM:243310
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... OMIM:194072
Trisomy 13
Anophthalmia, Cataract, Displacement of the urethral meatus, Abnormal eyelash morphology, Cryptor... ORPHA:3378
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Wolfram Syndrome 1
Diabetes mellitus, Cataract, Diabetes insipidus, Hypothyroidism, Testicular atrophy OMIM:222300
Cataract 48
Cataract OMIM:618415
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma, Vagi... ORPHA:3301
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Sparse eyelashes, Sparse eyebrow, Polymicrogyria, Unilateral microphthalmos, Macroor... OMIM:618874
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Proximal Myotonic Myopathy
Cataract ORPHA:606
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Cataract ORPHA:101006
WAGR 11p13 deletion syndrome
Abnormality of the male genitalia, Aniridia DECIPHER:35
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Low anterior hairline, Simplified gyral pattern, Lissencephaly, Microp... OMIM:613153
Retinitis Pigmentosa 9
Cataract OMIM:180104
Hec Syndrome
Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract ORPHA:2119
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Astigmatism, Peters anomaly, Microphthalmia, Iris coloboma, Broad ey... ORPHA:494344
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Pachygyria, Microphthalmia, Cataract, Simplified gyral pattern OMIM:251270
Aniridia 3
Aniridia, Cataract OMIM:617142
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Leber Congenital Amaurosis 16
Cataract OMIM:614186
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Lissencephaly 8
Cataract, Microphthalmia, Polymicrogyria, Agyria, Type II lissencephaly OMIM:617255
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Gray matter heterotopia, Astigmatism, Microphthalmia, Sparse lateral eyebrow OMIM:619694
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Hypospadias, Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... OMIM:615877
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Nail dystrophy OMIM:618165
Encephalocraniocutaneous Lipomatosis
Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:284160
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Renpenning Syndrome
Decreased testicular size, Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Cataract, ... ORPHA:3242
Hemochromatosis, Type 4
Diabetes mellitus, Impotence, Cataract OMIM:606069
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Oligozoospe... ORPHA:2067
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity, Isosexual precocious puberty ORPHA:2788
Trichothiodystrophy 1, Photosensitive
Cataract, Brittle hair, Trichoschisis, Fine hair, Microcornea, Keratoconjunctivitis sicca, Hypogo... OMIM:601675
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Posterior subcapsular cataract, Cataract OMIM:300578
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Delayed puberty ORPHA:496790
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair, Abnormal morphology of female inte... ORPHA:1839
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Gorlin Syndrome
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism, Iris coloboma ORPHA:377
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism OMIM:619318
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia, Polymicrogyria, Type II lissencephaly OMIM:615181
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Nanophthalmos
Microphthalmia ORPHA:35612
Ritscher-Schinzel Syndrome 3
Microphthalmia, Periventricular nodular heterotopia, Highly arched eyebrow, Cryptorchidism OMIM:619135
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Kapur-Toriello Syndrome
Hypoplasia of penis, Polymicrogyria, Hypoplastic labia majora, Microphthalmia, Pachygyria, Iris c... ORPHA:2328
Galactokinase Deficiency
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Hyperinsulinemia, Nucl... ORPHA:79237
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Microphthalmia, Lenz Type
Cataract, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma ORPHA:568
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Stickler Syndrome, Type V
Cataract OMIM:614284
Retinitis Pigmentosa 84
Cataract OMIM:618220
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract, Hypogonadism OMIM:610651
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Fine hair, Microcorne... ORPHA:217346
Ruijs-Aalfs Syndrome
Cataract, Posterior subcapsular cataract, Premature graying of hair, Hypogonadism, Sparse hair OMIM:616200
Achromatopsia 3
Cataract OMIM:262300
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Triploidy
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplas... ORPHA:3376
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Histiocytoid Cardiomyopathy
Corneal opacity, Polycystic ovaries, Microphthalmia, Megalocornea, Congenital aphakia ORPHA:137675
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Microphthalmia, Micropenis OMIM:614230
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa... OMIM:206900
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair, Posterior Y-sutural cataract ORPHA:50814
Wagro Syndrome
Cataract, Corneal opacity, Aniridia, Hypoplastic female external genitalia, Decreased testicular ... OMIM:612469
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Low anterior hairline, Developmental cat... OMIM:212720
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Synophrys, Primary amenorrh... OMIM:603457
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Cataract OMIM:608093
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Agyria, Peters anomaly, Cryptorchidism, Buphth... OMIM:236670
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Small scrotum, Cryptorchidism ORPHA:2728
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Cataract, Sparse eyelashes, Sparse scalp hair, Absent eyelashes, Crypto... OMIM:268400
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract OMIM:201470
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Simplified gyral pattern, Microcornea, Astigmatism... OMIM:152950
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se... OMIM:157640
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos, Low anterior hairline, Frontal upsweep of hair, Horizon... ORPHA:369891
Harrod Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:2115
Nanophthalmos 4
Microphthalmia OMIM:615972
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Subcortical band heterotopia, Focal polymicrogyria OMIM:615771
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract OMIM:230400
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Cataract, Cryptorchidism, Hypothyroidism ORPHA:85321
Congenital Rubella Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthalmia ORPHA:290
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Polymicrogyria, Cryptorchidism OMIM:618494
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Cataract, Dec... OMIM:240300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea, Keratoconjunctivitis sicca, Sp... ORPHA:1806
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, M... OMIM:617914
Weill-Marchesani Syndrome 1
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis OMIM:277600
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... ORPHA:573
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pterygium, Cataract OMIM:224410
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Low anterior hairline, Highly arched eyebrow, Cryptorchidism ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Type II lissencephaly OMIM:614830
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... OMIM:309801
Cat-Eye Syndrome
Microphthalmia, Iris coloboma ORPHA:195
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Ectopic thyroid, M... ORPHA:42775
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair, Micropht... OMIM:617883
Full Schwannomatosis
Uterine leiomyoma, Cataract, Neoplasm of the anterior pituitary ORPHA:93921
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... OMIM:305400
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Bardet-Biedl Syndrome 9
Astigmatism, Irregular menstruation, Cataract OMIM:615986
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Developmental cataract, Microphthalmia, Polymicrogyria OMIM:614219
Microphthalmia With Limb Anomalies
Abnormal eyelash morphology, Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma OMIM:212550
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract, Polymicrogyria, Hypertrichosis OMIM:612379
Rodrigues Blindness
Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia OMIM:268320
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Cataract OMIM:620327
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Cowden Syndrome 5
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr... OMIM:615108
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level OMIM:146200
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Lissencephaly, Microphthalmia, Agyria, Type II lissencephaly OMIM:615249
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Microphthalmia, Cataract, Periventricular heterotopia OMIM:614105
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Microcornea, Sparse hair, Microphthalmia, Clitoral hypertrophy OMIM:616449
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Synophrys, Nuclear pulverulen... OMIM:612474
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Cowden Syndrome 6
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr... OMIM:615109
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia, Sparse hair, Breast hypoplasia OMIM:614813
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Gray matter heterotopia, Microphth... ORPHA:370959
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Absent inner eyelashes, Limbal dermoid, Microphthalmia, ... ORPHA:1791
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Lissencephaly ORPHA:1528
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia ORPHA:3412
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Frontonasal Dysplasia 1
Microphthalmia, Widow's peak, Cataract OMIM:136760
Werner Syndrome
Sparse scalp hair, Cataract, Abnormal hair whorl, Decreased fertility, Secondary amenorrhea, Ovar... ORPHA:902
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cataract, Hypogonadism, Type II diabetes mellitus ORPHA:79095
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism OMIM:248700
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Microphthalmia, Supernumerary nipple, Cryptorchidism OMIM:612530
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse h... OMIM:613451
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism ORPHA:250989
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Developm... ORPHA:2108
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Cata... ORPHA:2238
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Cryptorchidism, Ocular albinism, Aplasia/Hyp... ORPHA:2719
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Lens luxation, Microphthalmia, Iris coloboma OMIM:218340
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Cohen Syndrome
Thick hair, Abnormal eyelash morphology, Cryptorchidism, Low anterior hairline, Long eyelashes, D... ORPHA:193
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Fanconi Anemia, Complementation Group A
Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Craniotelencephalic Dysplasia
Microphthalmia, Lissencephaly, Optic nerve hypoplasia OMIM:218670
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis OMIM:602361
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Jacobsen Syndrome
Hypospadias, Abnormal eyelash morphology, Cryptorchidism, Microcornea, Clitoral hypoplasia, Macul... OMIM:147791
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Pseudohypoparathyroidism, Type Ic
Cataract, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidis... OMIM:612462
Premature Aging Syndrome, Okamoto Type
Diabetes mellitus, Cataract OMIM:601811
Meckel Syndrome
Anophthalmia, True hermaphroditism, Cataract, Sclerocornea, Pancreatic fibrosis, Pancreatic cysts... ORPHA:564
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma ORPHA:231736
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Cryptorchidism, Developmental glaucoma, Fine hair, Sparse hair OMIM:614438
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior... OMIM:221900
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Abnormal mitochondrial shape, Clitoral hypertrophy, Cataract ORPHA:543470
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Baraitser-Winter Syndrome 2
Microphthalmia, Pachygyria, Lissencephaly, Highly arched eyebrow OMIM:614583
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis, Polymicrogyria OMIM:264480
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral m... ORPHA:2399
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Cryptorchidism, Abnormality of the uterus, Abnormal fallopi... ORPHA:99776
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Sparse eyelashes, Oligozoos... ORPHA:125
Fryns Syndrome
Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia ORPHA:2059
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... ORPHA:91495
Hallermann-Streiff Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse ... OMIM:234100
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Microphthalmia, Sparse... OMIM:618804
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Pterygium, Alopecia totalis, Absent external genital... OMIM:263650
Cowden Syndrome 1
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroi... OMIM:158350
Treacher-Collins Syndrome
Thyroid hypoplasia, Hypoplasia of penis, Small scrotum, Cataract, Absent eyelashes, Cryptorchidis... ORPHA:861
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Polymicrogyria OMIM:602501
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract OMIM:193220
Werner Syndrome
Diabetes mellitus, Alopecia of scalp, Cataract, Hypogonadism OMIM:277700
Ohdo Syndrome, X-Linked
Small scrotum, Sparse eyebrow, Cryptorchidism, High anterior hairline, Shawl scrotum, Microphthal... OMIM:300895
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Mi... ORPHA:35173
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Nail dystrophy, Highly arched eyebrow OMIM:300887
Fanconi Anemia, Complementation Group F
Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism OMIM:603467
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia, Abnormality of the hairline OMIM:248450
Fanconi Anemia, Complementation Group E
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:600901
2Q31.1 Microdeletion Syndrome
Abnormal hair morphology, Cryptorchidism, Synophrys, Low anterior hairline, Microphthalmia, Abnor... ORPHA:251014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Cataract, Optic nerve hypoplasia, Agyria, Gray matter heterotopia, Lisse... OMIM:614643
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Developmental cataract, Congenital hypoparathyroidism, Decreased testic... ORPHA:93325
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cataract, Small scrotum, Cryptorchidism, Long eyelashes, Shawl scrotum, Absent axillary hair, Meg... OMIM:601353
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the parathyroid gland, Po... ORPHA:2969
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Microphthalmia, Cataract, Iris transillumination defect OMIM:617306
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Abnormal cornea morphology OMIM:244400
Sponastrime Dysplasia
Cataract, Hypospadias, Precocious puberty, Microcoria, Hypothyroidism, Congenital aphakia ORPHA:93357
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Trisomy 18
Cataract, Cryptorchidism, Microcornea, Microphthalmia, Abnormal morphology of female internal gen... ORPHA:3380
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract OMIM:614878
Cerebellofaciodental Syndrome
Sparse eyebrow, Cryptorchidism, Cataract, Fine hair OMIM:616202
Oculofaciocardiodental Syndrome
Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia OMIM:619148
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia, Polymicrogyria, Agyria OMIM:616538
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract, Hypospadias ORPHA:65286
Dubowitz Syndrome
Sparse scalp hair, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Megalocor... OMIM:223370
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... OMIM:603903
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... ORPHA:2166
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Facial hirsutism, Ambiguous genitalia, Iris coloboma ORPHA:2839
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma OMIM:613884
Mend Syndrome
Microphthalmia, Cataract, Cryptorchidism ORPHA:401973
Roberts Syndrome
Cataract, Cryptorchidism, Long penis, Sparse hair, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Chops Syndrome
Curly hair, Cataract, Thick hair, Cryptorchidism, Synophrys, Coarse hair, Long eyelashes, Thick e... OMIM:616368
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Microphthalmia, Conjunctival hyperemia, Widow's peak OMIM:167730
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Hypospadias, Sparse eyebrow, Developmental cataract, Microcornea, Male urethra... ORPHA:464738
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Fanconi Anemia
Cataract, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the i... ORPHA:84
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Incontinentia Pigmenti
Hypoplasia of the fovea, Alopecia, Cataract, Supernumerary nipple, Keratitis, Fine hair, Coarse h... OMIM:308300
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Synophrys, Low anterior hairline, Microcornea, Microp... OMIM:616734
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Cousin Syndrome
Ambiguous genitalia, female, Low anterior hairline, Microcornea, Ambiguous genitalia, male, Facia... OMIM:260660
Congenital Fibrosis Of Extraocular Muscles
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape... ORPHA:45358
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Sparse eyelashes, Fine hair, Microcornea, Persistent pupillary membrane, Sparse hair, M... OMIM:257850
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Cryptorchidism, Sparse hair, Microphthalmia, Hypothyroidism OMIM:620005
Trichothiodystrophy
Sparse scalp hair, Brittle hair, Cryptorchidism, Bilateral microphthalmos, Developmental cataract... ORPHA:33364
Monosomy 18P
Microphthalmia, Alopecia, Hypothyroidism, Low posterior hairline ORPHA:1598
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Cockayne Syndrome B
Dry hair, Abnormal hair morphology, Cryptorchidism, Developmental cataract, Hypoplasia of the iri... OMIM:133540
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... OMIM:610829
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Polymicrogyria, Lissencephaly, Optic nerve hypoplasia OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia, Pachygyria,... OMIM:613150
Frontorhiny
Cataract, Widow's peak, Microphthalmia, Hypopituitarism, Diabetes insipidus, Iris coloboma ORPHA:391474
Fanconi Anemia, Complementation Group C
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227645
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Mi... OMIM:273395
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Posterior embryotoxon, Anophthalmia, Hypospadias, Corneal opacity, Scl... ORPHA:2556
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Mosaic Trisomy 1
Opacification of the corneal stroma, Microphthalmia, Micropenis, Penile hypospadias, Polymicrogyria ORPHA:1692
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Horizontal eyebrow, Cataract OMIM:618571
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... OMIM:619539
Pelvis-Shoulder Dysplasia
Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Sparse eyebrow, Cryptorchidism OMIM:616300
Myhre Syndrome
Abnormal penis morphology, Cataract, Hypospadias, External genital hypoplasia, Precocious puberty... ORPHA:2588
Renpenning Syndrome 1
Cataract, Hypospadias, Brittle hair, Phimosis, Sparse hair, Microphthalmia, Decreased testicular ... OMIM:309500
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Micro... OMIM:609053
Curry-Jones Syndrome
Microphthalmia, Iris coloboma, Generalized hirsutism ORPHA:1553
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Diabetes mellitus, Highly arched eyebrow, Cryptorchidism, Syno... ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Agyria, Lissencephaly, Microphthalmia, Pachygyria, Polymicrogyria, Type II lissencephaly OMIM:253800
Marfan Syndrome
Cataract, Ectopia lentis, Microspherophakia, Hypoplasia of the iris, Astigmatism OMIM:154700
Frontonasal Dysplasia 3
Microphthalmia, Absent eyebrow, Sparse eyelashes OMIM:613456
Refsum Disease
Microphthalmia, Cataract ORPHA:773
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Widow's peak, Peters anomaly, Microphthalmia, Annular pancreas, Broa... OMIM:616975
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Monosomy 9P
Hypospadias, Highly arched eyebrow, Cryptorchidism, Synophrys, Low posterior hairline, Ambiguous ... ORPHA:261112
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... OMIM:243605
Aicardi Syndrome
Cataract, Precocious puberty, Gray matter heterotopia, Microphthalmia, Pachygyria, Polymicrogyria... OMIM:304050
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract ORPHA:891
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Opacifi... OMIM:229850
Joubert Syndrome 22
Microphthalmia OMIM:615665
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly OMIM:120200
Proboscis Lateralis
Abnormal eyebrow morphology, Anophthalmia, Corneal opacity, Optic nerve hypoplasia, External geni... ORPHA:141099
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Developmental cataract... OMIM:300166
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Adams-Oliver Syndrome
Sparse hair, Microphthalmia, Alopecia, Cataract ORPHA:974
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Type II diabetes mellitus ORPHA:3191
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Microphthalmia OMIM:302960
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Hypospadias, Cataract, Diabetes mellitus, Allergic conjunctiviti... OMIM:176690
Myhre Syndrome
Cataract, Cryptorchidism, Fine hair, Sparse hair, Microphthalmia, Thick eyebrow OMIM:139210
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys ORPHA:261272
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Hypothyroidism ORPHA:1052
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Hyperparathyroidism, Cataract, Corneal opacity, Cryptorchidism, Abnormal pupil... ORPHA:534
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis OMIM:227646
Myoclonic-Astatic Epilepsy
Microphthalmia, Frontal balding ORPHA:1942
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidi... OMIM:620186
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cockayne Syndrome
Dry hair, Cataract, Diabetes mellitus, Band keratopathy, Cryptorchidism, Absence of pubertal deve... ORPHA:191
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... ORPHA:228123
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... ORPHA:273
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Sparse eyebrow, Cryptorchidism, Synophrys, Abnormality of the Leydig cells, Testicul... ORPHA:3063
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Cataract, Ovarian carcinoma, Microphthalmia, Iris coloboma OMIM:109400
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Hypospadias, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Cryptor... ORPHA:3472
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Sparse eyebrow, Synophrys, Microphthalmia, High anterior hairline, Thick ey... OMIM:620098
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Periventricular heterotopia, Cryptorchidism, Bilateral micro... ORPHA:468631
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior cortica... OMIM:309000
Deafness, X-Linked 7
Unilateral microphthalmos, Thick eyebrow OMIM:301018
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus, Low anterior hairline OMIM:617666
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morpholo... OMIM:154500
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma, Cataract ORPHA:77301
Joubert Syndrome 2
Microphthalmia, Hypoplastic male external genitalia OMIM:608091
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pach... ORPHA:3310
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Thymoma, Keratoconjun... OMIM:269200
Phace Association
Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Microphthalmia, Lingua... OMIM:606519
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Clitoral ... OMIM:609945
Incontinentia Pigmenti
Alopecia, Cataract, Corneal opacity, Supernumerary nipple, Keratitis, Abnormal hair morphology, M... ORPHA:464
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... OMIM:235730
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cataract, Cryptorchidism,... ORPHA:857
Fraser Syndrome 1
Absent eyebrow, Anophthalmia, Hypospadias, Corneal opacity, Abnormal cortical gyration, Absent ey... OMIM:219000
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism... ORPHA:138
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Abnormal hair pattern, Cryptorchid... ORPHA:2052
Neu-Laxova Syndrome 1
Cataract, Bifid uterus, Absent eyelashes, Cryptorchidism, Lissencephaly, Microphthalmia, Pterygium OMIM:256520
Microphthalmia With Limb Anomalies
Microphthalmia, Abnormal eyebrow morphology, True anophthalmia, Cryptorchidism ORPHA:1106
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Cryptorchidis... OMIM:607932
Focal Dermal Hypoplasia
Anophthalmia, Brittle hair, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Clitoral hypopl... OMIM:305600
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Amb... OMIM:249000
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Aicardi Syndrome
Precocious puberty, Delayed puberty, Microphthalmia, Pachygyria, Polymicrogyria, Sparse lateral e... ORPHA:50
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia, Pachygyria OMIM:251300
Oculodentodigital Dysplasia
Dry hair, Cataract, Slow-growing hair, Fine hair, Microcornea, Sparse hair, Microphthalmia OMIM:164200
Curry-Jones Syndrome
Microphthalmia, High anterior hairline, Polymicrogyria, Iris coloboma, Hirsutism OMIM:601707
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Abnormal hair morphology, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Dyskeratosis Congenita, X-Linked
Alopecia, Cataract, Hypospadias, Sparse eyelashes, Phimosis, Cryptorchidism, Premature graying of... OMIM:305000
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Fontaine Progeroid Syndrome
Sparse scalp hair, Small scrotum, Absent nipple, Periventricular heterotopia, Cryptorchidism, Syn... OMIM:612289
Lymphedema-Distichiasis Syndrome
Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal u... OMIM:153400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Synophrys, Cataract, Hypogonadism ORPHA:3042
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Papillorenal Syndrome
Microphthalmia, Cataract, Lens luxation OMIM:120330
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Cataract, Supernumerary nipple, Cryptorchidism, Low posterior hairline... OMIM:113620
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Focal Dermal Hypoplasia
Alopecia, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:2092
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, Corneal stromal ... OMIM:601812
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Cholelithiasis, Cryptorchidism, Hypop... ORPHA:567
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Low posterior hairline, Microphthalmia, Mic... OMIM:617925
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia, Sclerocornea OMIM:300952
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Leukocoria ORPHA:2714
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Fetal Alcohol Syndrome
Microphthalmia, Generalized hirsutism ORPHA:1915
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormal cortical gyration, Perineal fistula, Rectovaginal fistula, Microphthalmia ORPHA:2538
Cerebrooculofacioskeletal Syndrome 4
Polymicrogyria, Bilateral microphthalmos, Simplified gyral pattern OMIM:610758
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, External genital hypoplasia, Cat... OMIM:214800
Duane-Radial Ray Syndrome
Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma OMIM:607323
Linear Nevus Sebaceus Syndrome
Microphthalmia, Alopecia, Adenoma sebaceum, Iris coloboma ORPHA:2612
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Cataract, Hypospadias, Unilateral cryptorchidism, Decreased respon... OMIM:613406
Atelis Syndrome 2
Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia,... OMIM:620185
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Polymicrogyria, Microphthalmia, Pachygyria, Imperforate hymen OMIM:100300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Microphthalmia, Iris coloboma, Hypertrichosis ORPHA:508498
Joubert Syndrome 14
Microphthalmia, Highly arched eyebrow OMIM:614424
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Aplasia of the uterus OMIM:614083
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Supernumerary nipple ORPHA:1236
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypospadias, Abnormal eyelash morphology, ... OMIM:619488
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Abnormal hair pattern ORPHA:2717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... OMIM:253280
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Synophrys, Corneal opacity, Thin eyebrow ORPHA:364577
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Cockayne Syndrome Type 3
Dry hair, Cataract, Microcornea, Premature graying of hair, Keratoconjunctivitis sicca, Lentiglob... ORPHA:90324
Roberts-Sc Phocomelia Syndrome
Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Cryptorchidism, Long penis, Bicorn... OMIM:268300
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma ORPHA:959
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Long eyebrows, Widow's peak, Long eyelashes, Microphthalmia OMIM:201180
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... ORPHA:672
Frontofacionasal Dysplasia
Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma OMIM:229400
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Developmental cataract OMIM:127000
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Anophthalmia, Cataract, Abnormal eyelash morphology, Abnormal hair morphology, Leuk... ORPHA:2526
Galloway-Mowat Syndrome 3
Microphthalmia, Pachygyria, Lissencephaly, Simplified gyral pattern OMIM:617729
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of hair, Diabetes mellitus, Corneal crystals, Primary hypothyr... OMIM:219800
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Teebi-Shaltout Syndrome
Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair, Microphthalmia OMIM:272950
Microcephaly-Micromelia Syndrome
Microphthalmia, Simplified gyral pattern OMIM:251230
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Gray matter heterotopia, Adrenal gland dys... OMIM:236680
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Microphthalmia ORPHA:306542
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Steinfeld Syndrome
Microphthalmia, Iris coloboma, Absent gallbladder OMIM:184705
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Abnormality of neuronal migration, Iris coloboma, Absent gallbladder ORPHA:3186
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Low posterior hairline, Hypogonadism, Woolly hair OMIM:163950
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cat Eye Syndrome
Microphthalmia, Iris coloboma OMIM:115470
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Abnormal pupil morphology, Microcornea, Webbed penis, Micropenis, Iris coloboma, I... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cataract, Hypospadias, Webbed penis, Septate vagina, Periventricular heterotopia, ... ORPHA:261537
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma ORPHA:268249
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Webbed penis, Septate vagina, Periventricular heterotopia, ... ORPHA:2152
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... OMIM:175780
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Cryptorchidism, Microcornea, Ciliary body coloboma, Microphthalmia, Ir... OMIM:309800
Holoprosencephaly 1
Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia OMIM:236100
Holoprosencephaly 7
Synophrys, Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma OMIM:610828
Momo Syndrome
Abnormality of the thyroid gland, Bilateral microphthalmos ORPHA:2563
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Synophrys, Corneal opacity, Thin eyebrow OMIM:608670
Cystic Fibrosis
Male infertility OMIM:219700
Isolated Arrhinia
Microphthalmia ORPHA:1134
Holoprosencephaly 2
Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Iris coloboma, Anterior pituitary agenesis OMIM:157170
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Optic nerve hypoplasia, Highly arched eyebrow, Bilateral microphthal... ORPHA:508488
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia 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

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.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tbc1d20em1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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