Gene Summary

Name:
CDP-diacylglycerol synthase 1
Synonyms:
phosphatidate cytidylyltransferase,  4833409J18Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Cds1em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Cds1em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Cds1em1(IMPC)Mbp HOM Early adult 0.00

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

37 Images

X-ray

XRay Images Whole Body Dorso Ventral

103 Images

Human diseases caused by Cds1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cds1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 17
Male infertility OMIM:617214
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Premature Ovarian Failure 12
Primary amenorrhea, Microphthalmia OMIM:616947
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
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 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Nanophthalmos
Microphthalmia ORPHA:35612
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Nanophthalmos 4
Microphthalmia OMIM:615972
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Microphthalmia ORPHA:141333
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Mmep Syndrome
Microphthalmia ORPHA:3434
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Cofs Syndrome
Hypogonadism, Microphthalmia ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Microphthalmia OMIM:601794
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Microphthalmia ORPHA:363741
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Pierpont Syndrome
Microphthalmia ORPHA:487825
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Pierpont Syndrome
Microphthalmia OMIM:602342
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Familial Peripheral Male-Limited Precocious Puberty
Oligozoospermia, Male infertility ORPHA:3000
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Lissencephaly 8
Microphthalmia OMIM:617255
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Joubert Syndrome 22
Microphthalmia OMIM:615665
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Microphthalmia, Premature ovarian insuffi... OMIM:110100
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Moebius Syndrome
Hypogonadotropic hypogonadism, Microphthalmia OMIM:157900
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Microphthalmia ORPHA:228390
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Seckel Syndrome 2
Microphthalmia OMIM:606744
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Joubert Syndrome 37
Microphthalmia OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Monosomy 18P
Microphthalmia ORPHA:1598
Trichothiodystrophy 4, Nonphotosensitive
Decreased fertility, Microphthalmia OMIM:234050
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Temtamy Syndrome
Microphthalmia OMIM:218340
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Rodrigues Blindness
Microphthalmia OMIM:268320
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Male infertility, Microphthalmia OMIM:227650
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Refsum Disease
Microphthalmia ORPHA:773
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Microphthalmia OMIM:212720
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia OMIM:610651
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Joubert Syndrome 14
Microphthalmia OMIM:614424
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Microphthalmia OMIM:601675
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Micro Syndrome
Microphthalmia ORPHA:2510
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Microphthalmia, Optic nerve hyp... OMIM:206900
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, Anophthalmia, Microphthalmia ORPHA:2250
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Microphthalmia OMIM:600901
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Frontorhiny
Microphthalmia ORPHA:391474
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Cohen Syndrome
Microphthalmia ORPHA:193
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Joubert Syndrome 2
Microphthalmia OMIM:608091
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Microphthalmia OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Fryns Syndrome
Microphthalmia ORPHA:2059
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Papillorenal Syndrome
Microphthalmia OMIM:120330
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Meckel Syndrome 14
Microphthalmia OMIM:619879
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Bosma Arhinia Microphthalmia Syndrome
Primary amenorrhea, Hypogonadotropic hypogonadism, Microphthalmia OMIM:603457
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Cousin Syndrome
Microphthalmia OMIM:260660
Atelis Syndrome 2
Microphthalmia OMIM:620185
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Trisomy 18
Microphthalmia ORPHA:3380
Holoprosencephaly
Anophthalmia, Microphthalmia ORPHA:2162
Rothmund-Thomson Syndrome, Type 2
Hypogonadism, Microphthalmia OMIM:268400
Fanconi Anemia
Hypogonadism, Azoospermia, Aplasia/Hypoplasia of the iris, Microphthalmia, Decreased fertility in... ORPHA:84
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Microphthalmia OMIM:227646
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Microphthalmia OMIM:309801
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Isolated Arrhinia
Microphthalmia ORPHA:1134
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Cat Eye Syndrome
Microphthalmia OMIM:115470
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Azoospermia, Microphthalmia ORPHA:534
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia OMIM:133540
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:564
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Steinfeld Syndrome
Microphthalmia OMIM:184705
Fraser Syndrome 2
Microphthalmia OMIM:617666
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Aicardi Syndrome
Microphthalmia ORPHA:50
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Traboulsi Syndrome
Microphthalmia OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Phace Syndrome
Lens coloboma, Optic nerve hypoplasia, Microphthalmia ORPHA:42775
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Aicardi Syndrome
Microphthalmia OMIM:304050
Degcags Syndrome
Chordee, Microphthalmia OMIM:619488
Monosomy 9P
Microphthalmia ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Mend Syndrome
Microphthalmia ORPHA:401973
Myhre Syndrome
Microphthalmia OMIM:139210
Cockayne Syndrome
Microphthalmia ORPHA:191
Charge Syndrome
Hypogonadotropic hypogonadism, Anophthalmia, Microphthalmia ORPHA:138
22Q11.2 Deletion Syndrome
Microphthalmia ORPHA:567
Fryns Syndrome
Microphthalmia OMIM:229850
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Roberts Syndrome
Microphthalmia ORPHA:3103
Microphthalmia, Syndromic 2
Phthisis bulbi, Anophthalmia, Microphthalmia OMIM:300166
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia OMIM:620186
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Hypoplasia of the retina, Microphthalmia OMIM:253280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Monosomy 13Q14
Microphthalmia ORPHA:1587
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Focal Dermal Hypoplasia
Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Norrie Disease
Hypoplasia of the iris, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:649
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Neuroocular Syndrome 1
Hypoplasia of the fovea, Lens coloboma, Microphthalmia OMIM:619539
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Charge Syndrome
Hypogonadotropic hypogonadism, Unilateral microphthalmos, Anophthalmia, Microphthalmia OMIM:214800
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Microphthalmia, Syndromic 6
Female hypogonadism, Anophthalmia, Microphthalmia OMIM:607932
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Holoprosencephaly 1
Microphthalmia OMIM:236100
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Chordee, Oligomenorrhea, Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Microphthalmia ORPHA:261537
Townes-Brocks Syndrome
Microphthalmia ORPHA:857