Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
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 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
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 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
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 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
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 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
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 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 25 |
|
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617960 |
Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619528 |
Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Spermatogenic Failure 63 |
|
Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 30 |
|
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia |
OMIM:618110 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
Spermatogenic Failure 50 |
|
Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia |
ORPHA:1646 |
Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... |
OMIM:301101 |
Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Microphthalmia, Anophthalmia |
OMIM:611638 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microphthalmia/Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... |
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 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619949 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hypogonadotropic hypogonadism, Hypogonadism |
ORPHA:141333 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
Spermatogenic Failure 2 |
|
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia |
OMIM:108420 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
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 |
|
Microphthalmia, Hypoplasia of the fovea |
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 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Spermatogenic Failure 77 |
|
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia |
OMIM:620103 |
Cofs Syndrome |
|
Microphthalmia, Hypogonadism |
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 |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia |
OMIM:615113 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
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-Mental Retardation Syndrome |
|
Microphthalmia, Hypogonadism |
OMIM:601794 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Hypogonadism |
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 |
|
Male infertility, Round spermatid arrest, Azoospermia |
OMIM:615842 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Male infertility, Oligozoospermia |
ORPHA:48 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Oligozoospermia |
ORPHA:3000 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
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 |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Spermatogenic Failure 13 |
|
Male infertility, Azoospermia |
OMIM:615841 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
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 |
|
Male infertility, Azoospermia |
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 |
|
Male infertility, Immotile sperm |
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 |
|
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... |
ORPHA:83461 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral 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, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... |
ORPHA:2334 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Ring Chromosome Y Syndrome |
|
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... |
ORPHA:261529 |
Congenital Rubella Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the iris |
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, Anterior segment of eye aplasia, Congenital aphakia, Aniridia |
OMIM:610256 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
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 |
|
Microphthalmia, Premature ovarian insufficiency, Female infertility, Amenorrhea, Irregular menstr... |
OMIM:110100 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Trisomy 13 |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia |
ORPHA:3378 |
Moebius Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
OMIM:157900 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:85284 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Hypogonadism |
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 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Decreased fertility |
OMIM:234050 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Microphthalmia |
ORPHA:370959 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610125 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
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 |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
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 |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Bilateral microphthalmos |
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 |
|
Microphthalmia, Aniridia |
OMIM:602361 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Microphthalmia/Coloboma 12 |
|
Microphthalmia, Optic nerve aplasia |
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 |
|
Microphthalmia, Anophthalmia |
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 |
|
Microphthalmia, Male infertility, Hypergonadotropic hypogonadism |
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 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
Norrie Disease |
|
Buphthalmos, Microphthalmia, Hypoplasia of the iris |
OMIM:310600 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Martsolf Syndrome 1 |
|
Microphthalmia, Hypogonadotropic hypogonadism |
OMIM:212720 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Hypogonadism |
OMIM:610651 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
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 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
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 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Hypogonadism |
OMIM:601675 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
3Q29 Microduplication Syndrome |
|
Microphthalmia, Aniridia |
ORPHA:251038 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia |
ORPHA:91495 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia |
ORPHA:2505 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Hypogonadotropic hypog... |
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 |
|
Microphthalmia, Hypoplasia of the iris |
OMIM:613001 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Microphthalmia, Buphthalmos |
OMIM:221900 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypogonadism, Anophthalmia |
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 |
|
Microphthalmia, Hypergonadotropic hypogonadism |
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 |
|
Microphthalmia, Anophthalmia |
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 |
|
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia |
OMIM:612109 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
OMIM:607323 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Galloway-Mowat Syndrome 1 |
|
Microphthalmia, Hypoplasia of the iris |
OMIM:251300 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Hypergonadotropic hypogonadism |
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 |
Fanconi Anemia, Complementation Group N |
|
Microphthalmia |
OMIM:610832 |
Focal Dermal Hypoplasia |
|
Microphthalmia, Hypoplasia of the iris |
ORPHA:2092 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Microphthalmia, Buphthalmos |
OMIM:236670 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Pierson Syndrome |
|
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h... |
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 |
|
Microphthalmia, Hypogonadotropic hypogonadism, Primary amenorrhea |
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 |
|
Microphthalmia, Hypoplasia of the iris |
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 |
|
Microphthalmia, Anophthalmia |
ORPHA:2162 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Hypogonadism |
OMIM:268400 |
Fanconi Anemia |
|
Microphthalmia, Azoospermia, Decreased fertility in males, Hypogonadism, Aplasia/Hypoplasia of th... |
ORPHA:84 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Hypergonadotropic hypogonadism |
OMIM:227646 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Incontinentia Pigmenti |
|
Microphthalmia, Hypoplasia of the fovea |
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 |
|
Microphthalmia, Macular hypoplasia |
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 |
|
Microphthalmia, Optic disc hypoplasia |
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 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:601186 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Microphthalmia, Azoospermia |
ORPHA:534 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia |
ORPHA:1052 |
Cockayne Syndrome B |
|
Microphthalmia, Hypoplasia of the iris |
OMIM:133540 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Meckel Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia |
ORPHA:564 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
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 |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Traboulsi Syndrome |
|
Microphthalmia |
OMIM:601552 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Lens coloboma |
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 |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Myhre Syndrome |
|
Microphthalmia |
OMIM:139210 |
Cockayne Syndrome |
|
Microphthalmia |
ORPHA:191 |
Charge Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism, Anophthalmia |
ORPHA:138 |
22Q11.2 Deletion Syndrome |
|
Microphthalmia |
ORPHA:567 |
Fryns Syndrome |
|
Microphthalmia |
OMIM:229850 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Bilateral microphthalmos |
ORPHA:468631 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Microphthalmia, Syndromic 2 |
|
Phthisis bulbi, Microphthalmia, Anophthalmia |
OMIM:300166 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia |
OMIM:620186 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610829 |
Proboscis Lateralis |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
ORPHA:141099 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
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 |
|
Microphthalmia, Aniridia, Anophthalmia |
OMIM:305600 |
Norrie Disease |
|
Microphthalmia, Erectile dysfunction, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens |
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 |
|
Microphthalmia, Hypoplasia of the fovea, Lens coloboma |
OMIM:619539 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Charge Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism, Unilateral microphthalmos, Anophthalmia |
OMIM:214800 |
Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Female hypogonadism, Anophthalmia |
OMIM:607932 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Witteveen-Kolk Syndrome |
|
Microphthalmia |
OMIM:613406 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia |
OMIM:256520 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Fraser Syndrome 1 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:219000 |
Pallister-Hall Syndrome |
|
Microphthalmia |
ORPHA:672 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Bilateral microphthalmos |
ORPHA:508488 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia |
OMIM:236680 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microphthalmia, Hypoplasia of the iris |
OMIM:175780 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Mowat-Wilson Syndrome |
|
Oligomenorrhea, Microphthalmia, Chordee |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Chordee, Microphthalmia |
ORPHA:261537 |
Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Chordee, Microphthalmia |
ORPHA:261552 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia |
OMIM:268300 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |