banner
Genes Phenotypes Help, News, Blog

Gene: Tbc1d20 MGI:1914481

Log in to follow

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
hemorrhage Tbc1d20em1(IMPC)Mbp HET E18.5 0.00
increased red blood cell distribution width Tbc1d20em1(IMPC)Mbp HET Early adult 3.44×10-05
increased heart weight Tbc1d20em1(IMPC)Mbp HET Early adult 4.22×10-05
abnormal skin morphology Tbc1d20em1(IMPC)Mbp HET Early adult 0.00
male infertility Tbc1d20em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

View images

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
Microphthalmia, Microcornea, Hirsutism, Decreased testicular size, Perisylvian polymicrogyria, Lo... OMIM:615663
Micro Syndrome
Delayed puberty, Microphthalmia, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Clit... 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 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
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 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 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 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
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... OMIM:604307
Cataract 17, Multiple Types
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea OMIM:611544
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:620356
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Abnormal hair morphology, Long penis, Oligozoospermia, Precocious puberty, Macr... ORPHA:3000
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocyto... OMIM:615631
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia, Hypogonadism ORPHA:2528
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal... OMIM:240950
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Cataract-Deafness-Hypogonadism Syndrome
Generalized hypertrichosis, Developmental cataract, Hypogonadism ORPHA:1383
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
X-Linked Retinoschisis
Cataract ORPHA:792
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Muscular dystrophy, Hypogonadism OMIM:254000
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Hypergonadotropic hypogonadism, Cataract, Nucl... ORPHA:79237
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Nathalie Syndrome
Cataract ORPHA:2663
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, C... ORPHA:320391
Ethanolaminosis
Cardiomegaly OMIM:227150
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Hypogonadism, Cataract, Cryptorchidism ORPHA:363741
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Deleted in azoospermia
Azoospermia OMIM:400003
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Trichomegaly
Cataract OMIM:190330
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean... OMIM:616860
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Cryptorchidism, Hypogonadism OMIM:601794
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Hypertrophic cardiomyo... OMIM:613673
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells, R... OMIM:224120
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism ORPHA:2489
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Dysequilibrium Syndrome
Cataract ORPHA:1766
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Premature ovarian insufficiency, Juvenile cataract, Absent eyelashes, Absent eyeb... OMIM:618625
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Morm Syndrome
Cataract, Micropenis ORPHA:75858
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract OMIM:616732
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Weill-Marchesani Syndrome 3
Microspherophakia, Ectopia lentis, Shallow anterior chamber OMIM:614819
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Cofs Syndrome
Cataract, Microphthalmia, Hypogonadism ORPHA:1466
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Young Syndrome
Azoospermia OMIM:279000
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Galactosemia Ii
Cataract OMIM:230200
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Spondylo-Ocular Syndrome
Cataract, Iris hypopigmentation, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Congenital Microcoria
Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris... ORPHA:566
Galactosemia Iv
Cataract OMIM:618881
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos OMIM:251750
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
1Q21.1 Microduplication Syndrome
Cataract, Cryptorchidism, Hypospadias ORPHA:250994
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Microcornea, Perisylvian polymicrogyria, Development... OMIM:600118
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Microcornea, Posterio... OMIM:612109
Exudative Vitreoretinopathy 6
Cataract, Cortical cataract, Nuclear cataract OMIM:616468
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Low posterior hairline, Hypergonadotropic hypogonadism, Abnormality of the hypothala... ORPHA:2183
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of toe, Camptodactyly of finger, Nuclear cataract ORPHA:2848
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Wagr Syndrome
Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri... ORPHA:893
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Uveal Melanoma
Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma ORPHA:39044
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Martsolf Syndrome 2
Cataract, Developmental cataract, Hypogonadotropic hypogonadism OMIM:619420
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Nathalie Syndrome
Cataract OMIM:255990
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Myotonic Dystrophy 2
Posterior subcapsular cataract, Frontal balding, Oligozoospermia, Iridescent posterior subcapsula... OMIM:602668
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Delayed puberty, Decreased response to growth hormone stimulation test... ORPHA:280679
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia, Cryptorchidism OMIM:613730
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Cataract, Developmental cataract, Sparse hair, Small scrotum, Micropenis OMIM:610756
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Microphthalmia, Syndromic 8
Microcornea, Cryptorchidism, Microphthalmia OMIM:601349
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Gray matter heterotopia, Cryptorchidism, Alopecia OMIM:164180
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Nail-Patella Syndrome
Microphakia, Keratoconus, Microcornea, Antecubital pterygium, Cataract, Lester's sign OMIM:161200
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Myotonic Dystrophy 1
Frontal balding, Cholelithiasis, Hypogonadism, Cataract, Testicular atrophy OMIM:160900
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia OMIM:615524
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Pierpont Syndrome
High anterior hairline, Abnormal cortical gyration, Microphthalmia, Microcornea, Cryptorchidism ORPHA:487825
Arthrogryposis And Ectodermal Dysplasia
Camptodactyly, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Nuclear cataract, Dia... OMIM:601701
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Type II diabetes mellitus, Cataract, Cr... ORPHA:2377
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclero... ORPHA:139471
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Retinitis Pigmentosa 40
Cataract OMIM:613801
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Low posterior hairline, Azoospermia ORPHA:2578
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Nanophthalmos 2
Microphthalmia OMIM:609549
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micr... OMIM:610125
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Foveal Hypoplasia 2
Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea OMIM:609218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Microcornea, Simplified gyral pattern, Cataract, Periventricular heterotopia OMIM:616171
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Iris coloboma OMIM:120433
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Warburg Micro Syndrome 3
Microphthalmia, Polymicrogyria, Microcornea, Hypoplastic labia minora, Cataract, Decreased testic... OMIM:614222
Mevalonic Aciduria
Cataract, Nuclear cataract OMIM:610377
Warburg Micro Syndrome 4
Microphthalmia, Microcornea, Hirsutism, Decreased testicular size, Perisylvian polymicrogyria, Lo... OMIM:615663
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia OMIM:302350
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, External genital hypoplasia, Corneal opacity, Atrichia, Decreased testicular size... ORPHA:1867
Cataract 47
Cataract, Microcornea OMIM:612018
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Ambiguous genitalia, Microphthalmia ORPHA:93267
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Trichothiodystrophy 4, Nonphotosensitive
Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Brittle hair, Abnormality of hair texture, ... OMIM:234050
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Increased female libido, Hypoplasia of the uterus, Male hypog... ORPHA:432
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Reduced sperm motility OMIM:615434
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Ectopia Lentis 1, Isolated, Autosomal Dominant
Microspherophakia, Ectopia lentis, Shallow anterior chamber OMIM:129600
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:2772
49,Xyyyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... ORPHA:99330
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Hip contracture, Zonular cataract, Flexion contracture OMIM:222765
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Abnormal circulating testosterone concentration, Hirsutism, Oligozoospermia, Inf... ORPHA:786
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract OMIM:608885
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Warburg Micro Syndrome 2
Microphthalmia, Polymicrogyria, Microcornea, Cataract, Low anterior hairline, Developmental catar... OMIM:614225
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Hypogonadism OMIM:302950
Craniolenticulosutural Dysplasia
Brittle hair, Punctate cataract, Posterior Y-sutural cataract, Sparse hair, Cryptorchidism, Coars... OMIM:607812
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Pierpont Syndrome
High anterior hairline, Microphthalmia, Microcornea, Cryptorchidism, Micropenis OMIM:602342
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Erythrokeratodermia Variabilis
Abnormal hair morphology, Corneal opacity, Abnormal testis morphology, Generalized hirsutism, Cat... ORPHA:317
Otodental Syndrome
Microphthalmia, Microcornea, Lens coloboma, Cataract, Iris coloboma ORPHA:2791
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Hypergonadotropic hypogonadism OMIM:614307
WAGR 11p13 deletion syndrome
Abnormality of the male genitalia, Aniridia DECIPHER:35
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia ORPHA:3173
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormal spermatogenesis, Heterochromia iridis, Hypergonadotropic hypogonadism ORPHA:90646
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly OMIM:604273
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Bresek Syndrome
Microphthalmia, Alopecia, Optic nerve hypoplasia, Decreased testicular size, Cryptorchidism, Iris... ORPHA:85284
Senior-Loken Syndrome
Cataract, Premature ovarian insufficiency ORPHA:3156
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Microphthalmia, Cataract ORPHA:1617
Kniest Dysplasia
Cataract, Lens luxation, Aplasia/Hypoplasia of the lens ORPHA:485
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract, Type II lissencephaly ORPHA:324416
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma OMIM:611638
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Low posterior hairline, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal ... ORPHA:261519
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Unicornuate uterus OMIM:600776
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... OMIM:618278
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Long-Olsen-Distelmaier Syndrome
Cataract, Optic nerve hypoplasia, Microspherophakia OMIM:620609
Lead Poisoning
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn... ORPHA:330015
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Hypogonadism, Small scrotum, Fine hair, Cryptorchidism, Alopecia ORPHA:228390
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Cataract 48
Cataract OMIM:618415
Cahmr Syndrome
Lamellar cataract OMIM:211770
Retinitis Pigmentosa 9
Cataract OMIM:180104
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Cryptorchidism, Hypogonadotropic hypogonadism, Low posterior hairline ORPHA:1387
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased cirrc... OMIM:300845
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Microphthalmia, Brittle hair, Tiger tail banding, Bilateral cryptorchidism,... OMIM:616395
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Gapo Syndrome
Keratoconus, Oligozoospermia, Sparse eyelashes, Sparse eyebrow, Dysmenorrhea, Hypogonadism, Ameno... ORPHA:2067
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Ragged-red muscle fibers, Facial palsy, EM... OMIM:157640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Type II lissencephaly, Agyria, Corneal opacity, Low anterior hairline, Simplified... OMIM:613153
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Microphthalmia, Highly arched eyebrow, Microcornea, Sparse pubic... OMIM:110100
Proximal Myotonic Myopathy
Cataract ORPHA:606
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Iris coloboma OMIM:610023
Micro Syndrome
Delayed puberty, Microphthalmia, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Clit... ORPHA:2510
Hemochromatosis, Type 4
Cataract, Diabetes mellitus, Impotence OMIM:606069
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia, Simplified gyral pattern, Pachygyria OMIM:251270
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Aniridia 3
Cataract, Aniridia OMIM:617142
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Norrie Disease
Delayed puberty, Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Corneal op... ORPHA:649
Walker-Warburg Syndrome
Microphthalmia, Abnormal cortical gyration, Hypoplasia of penis, Anophthalmia, Polymicrogyria, Mi... ORPHA:899
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Keratoconjunctivitis sicca, Brittle hair, M... OMIM:601675
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Congenital Fibrinogen Deficiency
Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Developmental cataract, Micr... ORPHA:335
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Long eyelashes, Precocious puberty, Scler... OMIM:615877
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Peters anomaly, Bilateral cryptorchidism OMIM:618652
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Usher Syndrome Type 3
Cataract, Iris hypopigmentation, Astigmatism ORPHA:231183
Combined Oxidative Phosphorylation Deficiency 47
Cataract, Cryptorchidism OMIM:618958
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Gray matter heterotopia, Sparse lateral eyebrow, Cataract OMIM:619694
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cataract, Decreased testicular size, Thick eyebrow, Hypogonadism, Sparse hai... ORPHA:127
Kapur-Toriello Syndrome
Microphthalmia, Iris coloboma, Polymicrogyria, Low posterior hairline, Pachygyria, Cataract, Cryp... OMIM:244300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Sclerocornea, Cryptorchidism, Iri... ORPHA:77298
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias, Microcornea, Abnormal scrotum morphology, Generalized hirsutism, Sma... ORPHA:2505
Vitreoretinochoroidopathy
Microcornea, Developmental cataract, Pulverulent cataract OMIM:193220
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia, Corneal opacity ORPHA:2788
3-Methylglutaconic Aciduria, Type Viib
Cataract, Zonular cataract, Flexion contracture OMIM:616271
Lissencephaly 8
Microphthalmia, Polymicrogyria, Type II lissencephaly, Agyria, Cataract OMIM:617255
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cat... ORPHA:2250
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Hereditary Mucoepithelial Dysplasia
Corneal dystrophy, Sparse hair, Cataract, Fine hair, Abnormal morphology of female internal genit... ORPHA:1839
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Trisomy 13
Microphthalmia, Anophthalmia, Abnormal eyelash morphology, Displacement of the urethral meatus, C... ORPHA:3378
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Baraitser-Winter Syndrome 1
Microphthalmia, Highly arched eyebrow, Low posterior hairline, Pachygyria, Lissencephaly, Cryptor... OMIM:243310
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Microcornea, Zonular cataract, Hypogonadism, Cataract, Cryptorchidism OMIM:268400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Hirsutism, Unilateral microphthalmos OMIM:619318
Bone Marrow Failure Syndrome 5
Nail dystrophy, Testicular atrophy, Hypogonadism OMIM:618165
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Myopathy, Sutural cataract, Weakness of facial musculature OMIM:201470
Stickler Syndrome, Type V
Cataract OMIM:614284
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia, Hypogonadism OMIM:610651
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia, Cryptorchidism, Hirsutism OMIM:214150
Joubert Syndrome 37
Microphthalmia, Decreased testicular size, Sparse hair, Cryptorchidism, Micropenis OMIM:619185
Wolfram Syndrome 1
Diabetes insipidus, Hypothyroidism, Cataract, Diabetes mellitus, Testicular atrophy OMIM:222300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Polymicrogyria, Type II lissencephaly, Optic nerve hypoplasia, Cataract OMIM:615181
Ruijs-Aalfs Syndrome
Premature graying of hair, Posterior subcapsular cataract, Hypogonadism, Sparse hair, Cataract OMIM:616200
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno... ORPHA:2232
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract, Flexion contracture of finger ORPHA:1010
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract OMIM:620425
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Dermatitis, Atopic
Cataract, Keratoconus, Conjunctivitis OMIM:603165
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Hypoplastic labia majora, Polymicrogyria, Pachygyria, Iris c... ORPHA:2328
Nanophthalmos
Microphthalmia ORPHA:35612
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Cataract 49
Posterior cortical cataract OMIM:619593
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Keratoconjun... OMIM:240300
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Astigmatism, Broad eyebrow, Hypospadias, Peters anomaly, Cryptorchidism, Iris col... ORPHA:494344
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Retinitis Pigmentosa 84
Cataract OMIM:618220
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, Optic nerve hypoplasia, Corneal opacity, Cataract, Cryptorchidism ORPHA:496790
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Ir... ORPHA:3301
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Histiocytoid Cardiomyopathy
Microphthalmia, Corneal opacity, Megalocornea, Congenital aphakia, Polycystic ovaries ORPHA:137675
Achromatopsia 3
Cataract OMIM:262300
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Cryptorchidism OMIM:300578
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Alopecia of scalp, Hypospadias, Polymicrogyria, Unilateral microphthalmos, Sparse eyelashes, Spar... OMIM:618874
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Craniolenticulosutural Dysplasia
Coarse hair, Posterior Y-sutural cataract, Sparse hair, Brittle hair ORPHA:50814
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Moebius Syndrome
Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism OMIM:157900
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Abnormality of the thyroid gland, Hypogonadism, Cataract, Diabet... OMIM:609286
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Low posterior ... ORPHA:1772
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Galactosemia I
Cataract, Premature ovarian insufficiency, Hypergonadotropic hypogonadism OMIM:230400
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Chordee, Sclerocornea, Micropenis, ... OMIM:309801
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Catara... ORPHA:284160
Full Schwannomatosis
Cataract, Neoplasm of the anterior pituitary, Uterine leiomyoma ORPHA:93921
Martsolf Syndrome 1
Microphthalmia, Low posterior hairline, Low anterior hairline, Developmental cataract, Cataract, ... OMIM:212720
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Nanophthalmos 4
Microphthalmia OMIM:615972
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Subcortical band heterotopia, Microphthalmia, Focal polymicrogyria OMIM:615771
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypospadias, Synophrys, Primary amenorrhea, Cataract, Cryptorchidism, Micropenis,... OMIM:603457
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Simplified gyral p... OMIM:152950
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Testicular atrophy OMIM:613987
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris, Sclerocornea, Limbal dermoid, Cryptorchidism, Alopecia OMIM:613001
Congenital Rubella Syndrome
Microphthalmia, Corneal opacity, Type I diabetes mellitus, Cataract, Aplasia/Hypoplasia of the iris ORPHA:290
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Schwannomatosis, Vestibular
Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opacities, Cataract, Co... OMIM:101000
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Microlissencephaly, Optic nerve hypoplasia, Simplified gyral pattern, Vaginal atr... OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Triploidy
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia affecting the eye, Cataract, Ambiguous genit... ORPHA:3376
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Sparse hair, Cataract, Fine hair, K... ORPHA:1806
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian neoplasm, Long eyelashes, Low anterior hairline, Sparse hair, Ovarian car... OMIM:617883
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Hypothyroidism, Sclerocornea, Lens ... ORPHA:42775
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Monilethrix
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Patchy alopecia, Abnormal eyebrow m... ORPHA:573
Weill-Marchesani Syndrome 1
Cataract, Ectopia lentis, Shallow anterior chamber, Microspherophakia OMIM:277600
Hypoparathyroidism, Familial Isolated, 1
Cataract, Decreased circulating parathyroid hormone level, Hypoparathyroidism OMIM:146200
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality o... ORPHA:2470
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... ORPHA:465508
Cat-Eye Syndrome
Microphthalmia, Iris coloboma ORPHA:195
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Type II diabetes mellitus, Cholelithiasis, Hypogonadism ORPHA:79095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Microphthalmia OMIM:614830
Wagro Syndrome
Hypoplastic female external genitalia, Aniridia, Corneal opacity, Decreased testicular size, Cata... OMIM:612469
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Adams-Oliver Syndrome 2
Microphthalmia, Polymicrogyria, Developmental cataract, Low anterior hairline, Alopecia OMIM:614219
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Peters anomaly, Polymicrogyria, Hypoplastic male external genitalia, Type II liss... OMIM:236670
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Bardet-Biedl Syndrome 9
Cataract, Astigmatism, Irregular menstruation OMIM:615986
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Oligozoospermia, Clitoral hypoplasia, Sparse hair, Diabetes mellitus OMIM:614813
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Corneal scarring, Cataract, Buphthalmos, Iris coloboma OMIM:212550
Microphthalmia, Lenz Type
Microphthalmia, Hypospadias, Microcornea, Cataract, Cryptorchidism, Iris coloboma ORPHA:568
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Polymicrogyria, Microphthalmia, Hypertrichosis OMIM:612379
Rodrigues Blindness
Microphthalmia, Microcornea, Sclerocornea, Sparse hair, Fine hair OMIM:268320
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Hydrolethalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:2189
Norrie Disease
Microphthalmia, Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, L... OMIM:310600
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Microphthalmia, Cryptorchidism, Periventricular nodular heterotopia OMIM:619135
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Corneopalpebral synechiae, Anophthalmia, Abnormality of the hairline, Vaginal atr... OMIM:248450
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Microphthalmia, Hypospadias, Microcornea, Sparse hair, Cataract OMIM:616449
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Microcornea, Abnormality of the hypothalamus-pituitary axis, Hy... ORPHA:251066
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Bifid scrotum, Hypothyroidism, Cataract, Cryptorchidism ORPHA:85321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Type II lissencephaly, Agyria, Cataract, Lissencephaly OMIM:615249
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
19Q13.11 Microdeletion Syndrome
Hypospadias, Sparse or absent eyelashes, Microcornea, Bifid scrotum, Sparse lateral eyebrow, Spar... ORPHA:217346
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Frontal balding, Nuclear pulverulent cataract, Long lower eyelashes, Sutural cata... OMIM:612474
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Microphthalmia, Microcornea, Limbal dermoid, Brushfield spots,... ORPHA:1791
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Abnormality iris morphology, Polymicrogyria, Type II lissencephaly, Optic nerve h... ORPHA:370959
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos, Horizontal eyebrow, Low anterior ha... ORPHA:369891
Familial Isolated Hypoparathyroidism
Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroi... ORPHA:2238
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Harrod Syndrome
Cataract, Cryptorchidism, Hypospadias ORPHA:2115
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia, Periventricular heterotopia, Sparse hair OMIM:614105
Craniotelencephalic Dysplasia
Lissencephaly, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Weill-Marchesani Syndrome 2
Iridodonesis, Astigmatism, Microspherophakia, Lens luxation, Ectopia lentis, Shallow anterior cha... OMIM:608328
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Frontonasal Dysplasia 1
Cataract, Microphthalmia, Widow's peak OMIM:136760
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Sclerocornea, Cataract, Cryptorchidism, Micropenis OMIM:614230
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Polymicrogyria, Microphthalmia, Cryptorchidism OMIM:618494
Gracile Bone Dysplasia
Microphthalmia, Micropenis, Aniridia OMIM:602361
Temtamy Syndrome
Microphthalmia, Highly arched eyebrow, Lens luxation, Ectopia lentis, Iris coloboma OMIM:218340
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Craniotelencephalic Dysplasia
Lissencephaly, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Cataract... OMIM:615109
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Decreased serum testosterone concentration, Elevated c... OMIM:305400
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Autosomal Dominant Optic Atrophy And Cataract
Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular cataract, Catar... ORPHA:67036
Premature Aging Syndrome, Okamoto Type
Cataract, Diabetes mellitus OMIM:601811
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Hypogon... OMIM:103580
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cataract, Cryptorchidism, Pterygium OMIM:224410
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cataract, Abnormal mitochondrial shape, Clitoral hypertrophy, Ambiguous genitalia ORPHA:543470
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Cataract, Goiter, Hy... OMIM:615108
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Microphthalmia, Iris coloboma ORPHA:231736
Werner Syndrome
Cataract, Alopecia of scalp, Diabetes mellitus, Hypogonadism OMIM:277700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Phthisis bulbi, Shal... OMIM:221900
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Microphthalmia, Hypergonadotropic hypogonadism OMIM:227650
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Microphthalmia, Decreased pineal volume OMIM:301108
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Lissencephaly, Microphthalmia, Pachygyria OMIM:614583
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Microphthalmia, Cryptorchidism, Low anterior hairline ORPHA:404440
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Patchy alopecia,... ORPHA:125
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Cryptorchidism OMIM:620327
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Microphthalmia, Congenital hypoparathyroid... OMIM:241410
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Facial palsy, Remnants of the hyaloid vascular system, Foot dorsi... ORPHA:637
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium OMIM:619339
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Abnormal eyelash morphology, Corneal opacity, Conjuncti... ORPHA:2399
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Phthisis bulbi, Shal... ORPHA:91495
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microphthalmia, Cryptorchidism ORPHA:2728
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Sandestig-Stefanova Syndrome
Microphthalmia, Highly arched eyebrow, Laterally extended eyebrow, Developmental cataract, Sparse... OMIM:618804
Proteus-Like Syndrome
Thymus hyperplasia, Heterochromia iridis, Cataract, Limbal dermoid, Polycystic ovaries, Abnormali... ORPHA:2969
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility, Abnormal cornea morphology OMIM:244400
Microphthalmia With Limb Anomalies
Abnormal eyelash morphology, Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Microphthalmia OMIM:602501
Congenital Erythropoietic Porphyria
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... ORPHA:79277
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Scarring alopecia of scalp, Microcornea, Patchy alopecia, Sparse eyelashes, Spars... ORPHA:35173
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Nail dystrophy, Microphthalmia OMIM:300887
Sponastrime Dysplasia
Hypospadias, Congenital aphakia, Microcoria, Precocious puberty, Hypothyroidism, Cataract ORPHA:93357
Meckel Syndrome
Microphthalmia, Anophthalmia, Microcornea, Pancreatic fibrosis, Male pseudohermaphroditism, True ... ORPHA:564
Hallermann-Streiff Syndrome
Microphthalmia, Abnormality of hair texture, Sparse eyelashes, Hypothyroidism, Sparse body hair, ... ORPHA:2108
Knobloch Syndrome 1
Iris transillumination defect, Band keratopathy, Persistent pupillary membrane, Developmental cat... OMIM:267750
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Iris transillumination defect, Microcornea, Microphthalmia OMIM:617306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Polymicrogyria, Type II lissencephaly, Agyria, Optic nerve hypoplasia, Gray matte... OMIM:614643
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Hypoparathyroidism OMIM:247410
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Sclerocornea, Iris coloboma OMIM:615145
Cohen Syndrome
Delayed puberty, Microphthalmia, Thick hair, Abnormal eyelash morphology, Long eyelashes, Low ant... ORPHA:193
Marden-Walker Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Hypospadias OMIM:248700
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia... OMIM:613451
Vacterl With Hydrocephalus
Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Microcornea, Cryptorchidism ORPHA:3412
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Cryptorchidism, Supernumerary nipple, Microphthalmia OMIM:612530
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Oculofaciocardiodental Syndrome
Microphthalmia, Highly arched eyebrow, Microcornea, Ectopia lentis, Cataract, Iris coloboma ORPHA:2712
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia, Hypospadias ORPHA:65286
1Q21.1 Microdeletion Syndrome
Cataract, Microphthalmia, Cryptorchidism, Iris coloboma ORPHA:250989
Sickle Cell Disease
Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomegaly, Increas... OMIM:603903
Ifap Syndrome 2
Cataract, Keratitis, Keratoconjunctivitis sicca OMIM:619016
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Jacobsen Syndrome
Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Abnormal eyelash morphology, Mi... OMIM:147791
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Facial hirsutism, Microcornea, Ambiguous genitalia, Iris coloboma ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Microphthalmia, Polymicrogyria, Agyria, Cataract, Buphthalmos OMIM:616538
Congenital Fibrosis Of Extraocular Muscles
Polymicrogyria, Optic nerve hypoplasia, Anisocoria, Cataract, Hypogonadotropic hypogonadism, Abno... ORPHA:45358
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Microphthalmia, Hypoplastic labia majora, Pterygium, Alo... OMIM:263650
Fanconi Anemia
Microphthalmia, Astigmatism, Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased f... ORPHA:84
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Mosaic Trisomy 9
Hypoplastic female external genitalia, Microphthalmia, Abnormal fallopian tube morphology, Hypopl... ORPHA:99776
Fanconi Anemia, Complementation Group E
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Cholelithiasis, Microcornea, Sparse scalp hair, Sparse eyebrow, Deve... ORPHA:464738
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Hallermann-Streiff Syndrome
Microphthalmia, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cataract, Fine ... OMIM:234100
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Microphthalmia, Rectovaginal fistula, Abnormal hair morphology... ORPHA:861
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Sparse eyebrow, Microphthalmia, Widow's peak OMIM:167730
Pseudotrisomy 13 Syndrome
Microphthalmia, Polymicrogyria, Adrenal hypoplasia, Bicornuate uterus, Cryptorchidism, Micropenis OMIM:264480
Incontinentia Pigmenti
Breast hypoplasia, Nail dystrophy, Microphthalmia, Breast aplasia, Hypoplastic nipples, Keratitis... OMIM:308300
Monosomy 18P
Hypothyroidism, Microphthalmia, Low posterior hairline, Alopecia ORPHA:1598
Cousin Syndrome
Ambiguous genitalia, male, Microphthalmia, Facial hirsutism, Microcornea, Low anterior hairline, ... OMIM:260660
Fryns Syndrome
Microphthalmia, Hypospadias, Corneal opacity, Bicornuate uterus, Cryptorchidism ORPHA:2059
Traboulsi Syndrome
Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Corneal kera... ORPHA:263479
Frontorhiny
Microphthalmia, Diabetes insipidus, Cataract, Hypopituitarism, Widow's peak, Iris coloboma ORPHA:391474
Ohdo Syndrome, X-Linked
High anterior hairline, Microphthalmia, Sparse eyebrow, Small scrotum, Shawl scrotum, Cryptorchid... OMIM:300895
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Microcornea, Persistent pupillary membrane, Sparse eyelashes, Sparse hair, Catara... OMIM:257850
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
2Q31.1 Microdeletion Syndrome
Microphthalmia, Abnormal hair morphology, Synophrys, Abnormality of the hypothalamus-pituitary ax... ORPHA:251014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Type II lissencephaly, Persistent pupillary membrane, Pachygyria, Cataract, Bupht... OMIM:613150
Mosaic Trisomy 1
Microphthalmia, Polymicrogyria, Penile hypospadias, Opacification of the corneal stroma, Micropenis ORPHA:1692
Trisomy 18
Microphthalmia, Microcornea, Cataract, Cryptorchidism, Abnormal morphology of female internal gen... ORPHA:3380
Progeroid Short Stature With Pigmented Nevi
Delayed puberty, Premature ovarian insufficiency, Hypospadias, Chordee, Cataract, Diabetes mellit... OMIM:176690
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma ORPHA:251038
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Astigmatism, Scarring alopecia of scalp, Ectopia pupillae, Cataract OMIM:618727
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Iris coloboma OMIM:169550
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism OMIM:619148
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Horizontal eyebrow, Microphthalmia, Astigmatism, Cataract OMIM:618571
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Microphthalmia, Optic nerve hypoplasia, Lissencephaly OMIM:614833
Tetraamelia Syndrome 1
Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Vaginal atresia, Cat... OMIM:273395
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Astigmatism, Microphthalmia, Optic nerve h... OMIM:609053
Neuroocular Syndrome
Microphthalmia, Microcornea, Stellate iris, Hypoplasia of the fovea, Lens coloboma, Brushfield sp... OMIM:619539
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Curry-Jones Syndrome
Microphthalmia, Generalized hirsutism, Iris coloboma ORPHA:1553
Marfan Syndrome
Astigmatism, Microspherophakia, Hypoplasia of the iris, Ectopia lentis, Cataract OMIM:154700
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Microphthalmia, Keratitis, Conjunctivitis, Cataract, Keratoconjunctiv... OMIM:278730
Dubowitz Syndrome
Microphthalmia, Hypospadias, Sparse scalp hair, Megalocornea, Hypoplasia of the iris, Sparse late... OMIM:223370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Polymicrogyria, Type II lissencephaly, Agyria, Pachygyria, Cataract, Lissencephaly OMIM:253800
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma... ORPHA:2166
Fanconi Anemia, Complementation Group C
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227645
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Microphallus OMIM:603467
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology... ORPHA:2556
Refsum Disease
Cataract, Microphthalmia ORPHA:773
Frontonasal Dysplasia 3
Sparse eyelashes, Microphthalmia, Absent eyebrow OMIM:613456
Trichothiodystrophy
Gonadal dysgenesis, Dystrophic fingernails, Alopecia of scalp, Astigmatism, Bilateral microphthal... ORPHA:33364
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Aicardi Syndrome
Microphthalmia, Polymicrogyria, Gray matter heterotopia, Precocious puberty, Sparse lateral eyebr... OMIM:304050
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph... ORPHA:534
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris... OMIM:243605
Proboscis Lateralis
Microphthalmia, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Microcornea, C... ORPHA:141099
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Type II diabetes mellitus ORPHA:3191
Steinert Myotonic Dystrophy
Facial diplegia, Impotence, Abnormality of the tongue muscle, Decreased response to growth hormon... ORPHA:273
Roberts Syndrome
Clitoral hypertrophy, Microphthalmia, Long penis, Sparse hair, Cataract, Cryptorchidism ORPHA:3103
Joubert Syndrome 22
Microphthalmia OMIM:615665
Cockayne Syndrome B
Microphthalmia, Abnormal hair morphology, Microcornea, Hypoplasia of the iris, Developmental cata... OMIM:133540
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Corneal opacity, Vaginal neoplasm, Hypothyroidism, Cataract, Ambiguous genitalia ORPHA:1052
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia, Peters anomaly, Corneal opacity OMIM:120200
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology... ORPHA:228123
Adams-Oliver Syndrome
Cataract, Microphthalmia, Sparse hair, Alopecia ORPHA:974
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Abnormal circulating follicle-stimulating hormone concentration, Congen... ORPHA:93325
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Patchy alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cataract OMIM:302960
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys ORPHA:261272
Mend Syndrome
Cataract, Microphthalmia, Cryptorchidism ORPHA:401973
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Hypothyroidism, Sparse hair, Cataract, Cryptorchidism OMIM:620005
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Holoprosencephaly
Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Highly arched eyebrow, Diabetes in... ORPHA:2162
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Microcornea, Synophrys, Low anterior hairline, Small scrotum, Crypto... OMIM:616734
Myoclonic-Astatic Epilepsy
Microphthalmia, Frontal balding ORPHA:1942
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Cataract, Ovarian carcinoma, Iris coloboma OMIM:109400
Lowe Oculocerebrorenal Syndrome
Dense posterior cortical cataract, Corneal scarring, Camptodactyly of finger, Developmental catar... OMIM:309000
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Brittle hair, Phimosis, Decreased testicular size, Sparse lateral ey... OMIM:309500
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Supernumerary nipple, Cryptorchidism, Micropenis, Iris coloboma OMIM:613884
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia OMIM:608091
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Keratoconjunctivitis, Hypothyroidism, Primary adrenal insufficiency, Hyperthyro... OMIM:269200
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Low anterior hairline, Hypoplasia of the thymus OMIM:617666
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Sparse eyebrow, Cryptorchidism, Microphthalmia OMIM:616300
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
High anterior hairline, Microphthalmia, Synophrys, Sparse eyebrow, Thick eyebrow, Supernumerary n... OMIM:620098
Monosomy 9Q22.3
Cataract, Ovarian fibroma, Microphthalmia ORPHA:77301
Phace Association
Microphthalmia, Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Lingua... OMIM:606519
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism, Micropenis OMIM:227646
Tetrasomy 9P
Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Absent gallbladder, Lissencephaly, Cryp... ORPHA:3310
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Hypoplastic nipples, Microphthalmia OMIM:156610
Deafness, X-Linked 7
Thick eyebrow, Unilateral microphthalmos OMIM:301018
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Microphthalmia, Adrenal hypoplasia, Panhyp... OMIM:146510
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Hypothyroidism, Phthisis bulbi, Thick eye... OMIM:300166
Incontinentia Pigmenti
Microphthalmia, Abnormal hair morphology, Dystrophic toenail, Corneal opacity, Keratitis, Catarac... ORPHA:464
Fryns Syndrome
Microphthalmia, Hypospadias, Facial hirsutism, Bifid scrotum, Bicornuate uterus, Opacification of... OMIM:229850
Cockayne Syndrome
Delayed puberty, Microphthalmia, Keratoconjunctivitis sicca, Corneal ulceration, Band keratopathy... ORPHA:191
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Microphthalmia, Broad eyebrow, Hypospadias, Peters anomaly, Cryptorchidism, Wid... OMIM:616975
Monosomy 9P
Microphthalmia, Hypospadias, Highly arched eyebrow, Low posterior hairline, Synophrys, Thick eyeb... ORPHA:261112
Aicardi Syndrome
Delayed puberty, Microphthalmia, Polymicrogyria, Precocious puberty, Sparse lateral eyebrow, Pach... ORPHA:50
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris, Abnormality of neuronal migration, Pachygyria, Cataract, ... OMIM:251300
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of t... OMIM:609049
Myhre Syndrome
Microphthalmia, Thick eyebrow, Sparse hair, Cataract, Fine hair, Cryptorchidism OMIM:139210
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ... OMIM:147250
Oculodentodigital Dysplasia
Microphthalmia, Slow-growing hair, Microcornea, Sparse hair, Cataract, Fine hair, Dry hair OMIM:164200
Garg-Mishra Progeroid Syndrome
Microphthalmia, Sparse hair OMIM:620601
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Iris coloboma, Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent ni... OMIM:620186
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Yunis-Varon Syndrome
Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Sparse scalp hair, S... ORPHA:3472
Curry-Jones Syndrome
High anterior hairline, Microphthalmia, Polymicrogyria, Hirsutism, Iris coloboma OMIM:601707
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Microcornea, Adrenal hypoplasia, Female h... OMIM:607932
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos, Abnormal hair morphology OMIM:607597
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Microphthalmia, Yellow nails, Corneal ulceration, Distichiasis, Conju... OMIM:153400
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Synophrys, Sparse eyebrow, Cryptorchidism, Testicul... ORPHA:3063
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Corneal stromal e... OMIM:601812
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Hypospadias, Polymicrogyria, Optic nerve hypoplasia, Microphallus, Simp... ORPHA:468631
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormal cortical gyration, Rectovaginal fistula, Anophthalmia, Perineal fistula ORPHA:2538
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia, Sclerocornea OMIM:300952
Charge Syndrome
Delayed puberty, Abnormality of the adrenal glands, Microphthalmia, Anterior hypopituitarism, Ano... ORPHA:138
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Focal Dermal Hypoplasia
Microphthalmia, Alopecia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Iris coloboma ORPHA:2092
Papillorenal Syndrome
Cataract, Lens luxation, Microphthalmia OMIM:120330
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Low posterior hairline, Uterus didelphys, Absent gallbladder, Septate vagina, Mic... OMIM:617925
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Antecubital... OMIM:609945
Oculo-Palato-Cerebral Syndrome
Cataract, Microphthalmia, Leukocoria ORPHA:2714
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Bilateral cryptorchidism, Hypogonadism, Synophrys ORPHA:3042
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Fetal Alcohol Syndrome
Microphthalmia, Generalized hirsutism ORPHA:1915
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Iris coloboma, Microphthalmia, Alopecia ORPHA:2612
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Hyperinsulinemia,... OMIM:620185
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Cerebrooculofacioskeletal Syndrome 4
Polymicrogyria, Bilateral microphthalmos, Simplified gyral pattern OMIM:610758
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Hypospadias, Optic nerve hypoplasia, Hypertrichosis, Iris coloboma ORPHA:508498
Adams-Oliver Syndrome 1
Microphthalmia, Polymicrogyria, Imperforate hymen, Pachygyria, Supernumerary nipple, Alopecia OMIM:100300
Fraser Syndrome 1
Clitoral hypertrophy, Abnormal cortical gyration, Bilateral microphthalmos, Hypospadias, Anophtha... OMIM:219000
Duane-Radial Ray Syndrome
Cataract, Microphthalmia, Optic disc hypoplasia, Iris coloboma OMIM:607323
Focal Dermal Hypoplasia
Nail dystrophy, Microphthalmia, Aniridia, Brittle hair, Labial hypoplasia, Anophthalmia, Hypoplas... OMIM:305600
Charge Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas... OMIM:214800
Fanconi Anemia, Complementation Group L
Microphthalmia, Aplasia of the uterus, Micropenis OMIM:614083
Townes-Brocks Syndrome
Delayed puberty, Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal... ORPHA:857
Fontaine Progeroid Syndrome
Microphthalmia, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Synophrys, Low posterior h... OMIM:612289
Neu-Laxova Syndrome 1
Microphthalmia, Pterygium, Absent eyelashes, Bifid uterus, Cataract, Lissencephaly, Cryptorchidism OMIM:256520
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Adrenal hypoplasia, Bile ... OMIM:249000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple, Iris coloboma ORPHA:1236
Joubert Syndrome 14
Highly arched eyebrow, Microphthalmia OMIM:614424
Mowat-Wilson Syndrome
Microphthalmia, Broad eyebrow, Hypospadias, Microcornea, Bifid scrotum, Ectopia pupillae, Catarac... OMIM:235730
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Hypoparathyroidism, Developmental cataract OMIM:127000
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair, Microphthalmia, Corneal ulceration, Microcornea, Cataract, K... ORPHA:90324
Degcags Syndrome
Premature graying of hair, Microphthalmia, Hypospadias, Hypopigmentation of hair, Abnormal eyelas... OMIM:619488
22Q11.2 Deletion Syndrome
Corneal neovascularization, Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypo... ORPHA:567
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Abnormal cortical gyration, Microphthalmia... OMIM:610829
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Oculotrichoanal Syndrome
Microphthalmia, Abnormal hair pattern, Anophthalmia ORPHA:2717
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Long eyebrows, Iris atrophy, Long eyelashes, Widow's peak OMIM:201180
Witteveen-Kolk Syndrome
High anterior hairline, Medial flaring of the eyebrow, Decreased response to growth hormone stimu... OMIM:613406
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity, Thin eyebrow, Synophrys ORPHA:364577
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Decreased circulating T4 concentration, In... ORPHA:64
Cystinosis, Nephropathic
Recurrent corneal erosions, Delayed puberty, Male infertility, Hypopigmentation of hair, Primary ... OMIM:219800
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Cryptorchidism, True anophthalmia, Microphthalmia ORPHA:1106
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia, Microcornea, Cataract, Iris coloboma ORPHA:959
Frontofacionasal Dysplasia
Microphthalmia, Microcornea, Cataract, Absent inner eyelashes, Iris coloboma OMIM:229400
Fraser Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor... ORPHA:2052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microphthalmia, Buphthalmos, Polymicrogyria, Type II lissencephaly, Megalocornea, Hypoplasia of t... OMIM:253280
Branchiooculofacial Syndrome
Premature graying of hair, Microphthalmia, Hypospadias, Anophthalmia, Low posterior hairline, Whi... OMIM:113620
Galloway-Mowat Syndrome 3
Lissencephaly, Microphthalmia, Simplified gyral pattern, Pachygyria OMIM:617729
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukonychia, Microphthalmia, Abnormal hair morphology, Anophthalmia, Abnormal eyelash morphology,... ORPHA:2526
Treacher Collins Syndrome 1
Bilateral microphthalmos, Preauricular hair displacement, Sparse lower eyelashes, Abnormal paroti... OMIM:154500
Pallister-Hall Syndrome
Microphthalmia, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo... ORPHA:672
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Iris atrophy, Absent anterior chamber of the eye, Cataract, Phthisis bulbi OMIM:259770
Microcephaly-Micromelia Syndrome
Microphthalmia, Simplified gyral pattern OMIM:251230
Teebi-Shaltout Syndrome
Microphthalmia, Highly arched eyebrow, Slow-growing hair, Low anterior hairline, Sparse hair OMIM:272950
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Abnormal cortical gyration, Microphthalmia, Hypospadias, Abnormal vagin... OMIM:236680
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Corneal opa... OMIM:268300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Sparse eyelashes, Sparse eyebrow, Cataract, Widow's peak ORPHA:306542
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Abnormality of neuronal migration, Microphthalmia, Iris coloboma ORPHA:3186
Steinfeld Syndrome
Absent gallbladder, Microphthalmia, Iris coloboma OMIM:184705
Cat Eye Syndrome
Microphthalmia, Iris coloboma OMIM:115470
Monosomy 13Q14
Cataract, Microphthalmia, Iris coloboma ORPHA:1587
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Holoprosencephaly 1
Microphthalmia, Adrenal hypoplasia, Micropenis, Diabetes insipidus OMIM:236100
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma ORPHA:268249
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Highly arched eyebrow, Bifid scrotum, Iris atrophy, Ectopia pupillae, Septate vag... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Microphthalmia, Astigmatism, Iris coloboma, Hypospadias, Broad eyebr... ORPHA:261537
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Synophrys, Iris coloboma OMIM:610828
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,... OMIM:175780
Mowat-Wilson Syndrome
Periventricular heterotopia, Microphthalmia, Astigmatism, Iris coloboma, Hypospadias, Broad eyebr... ORPHA:2152
Noonan Syndrome 1
Male infertility, Hypospadias, Woolly hair, Low posterior hairline, Hypogonadism, Cryptorchidism OMIM:163950
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity, Thin eyebrow, Synophrys OMIM:608670
Cystic Fibrosis
Male infertility OMIM:219700
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Microphthalmia, Syndromic 1
Microphthalmia, Ciliary body coloboma, Hypospadias, Anophthalmia, Microcornea, Cryptorchidism, Ir... OMIM:309800
Isolated Arrhinia
Microphthalmia ORPHA:1134
Holoprosencephaly 2
Microphthalmia, Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Iris coloboma OMIM:157170
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Highly arched eyebrow, Optic nerve hypoplasia, Long eyelashes, Thick ey... 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

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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter