Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Bardet-Biedl Syndrome 18 |
|
Cognitive impairment, Cataract |
OMIM:615995 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Alpha-Thalassemia |
|
Cognitive impairment, Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia... |
ORPHA:846 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
Miller-Dieker syndrome (MDS) |
|
Frontal bossing, Midface retrusion, Microcephaly |
DECIPHER:21 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia, Microcephaly |
OMIM:613885 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Trigonocephaly, Prominent metopic ridge, Brachycephaly |
OMIM:275595 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Microcephaly, Brachycephaly |
ORPHA:2898 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Prominent metopic ridge, Microcephaly, Brachycephaly |
ORPHA:46 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Prominent occiput, Microcephaly |
ORPHA:1665 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly, Brachycephaly |
ORPHA:2528 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Dementia, Vacuolated lymphocytes, Cataract, Psychomotor deterioration, Anxiety |
OMIM:204200 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Morm Syndrome |
|
Aggressive behavior, Cataract |
ORPHA:75858 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Trisomy 13 |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia of the iris, Ab... |
ORPHA:3378 |
Isolated Brachycephaly |
|
Midface retrusion, Brachycephaly |
ORPHA:35099 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Non-Distal Trisomy 10Q |
|
Frontal bossing, Aplasia/Hypoplasia affecting the eye, Microcephaly, Brachycephaly |
ORPHA:1695 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Optic nerve hypoplasia, ... |
OMIM:618736 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Brachycephaly |
ORPHA:66625 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Irritability, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Isolated Plagiocephaly |
|
Plagiocephaly, Midface retrusion, Frontal bossing |
ORPHA:35098 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
Norrie Disease |
|
Dementia, Shallow anterior chamber, Hypoplasia of the iris, Aggressive behavior, Cataract, Opacif... |
OMIM:310600 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract, Hypochromic anemia |
OMIM:257790 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Craniosynostosis 2 |
|
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... |
OMIM:604757 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Phenylketonuria |
|
Blue irides, Aggressive behavior, Self-mutilation, Irritability, Cataract, Anxiety |
OMIM:261600 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Anophthalmia, Microphthalmia |
OMIM:206920 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal craniosynostosis, Scaphocephaly, Turric... |
OMIM:614188 |
Craniosynostosis 6 |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Spi... |
OMIM:616602 |
Usher Syndrome Type 3 |
|
Anxiety, Iris hypopigmentation, Astigmatism, Cataract |
ORPHA:231183 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia, Microcephaly |
OMIM:147250 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Frontal bossing, Microcephaly |
OMIM:206900 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia, Microcephaly |
ORPHA:139471 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Isolated Ectopia Lentis |
|
Cognitive impairment, Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Cerebrooculonasal Syndrome |
|
Brachycephaly, Anophthalmia, Craniosynostosis, Proboscis, Frontal bossing |
OMIM:605627 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Craniosynostosis 4 |
|
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Optic nerve hypoplasia, Fronta... |
OMIM:600775 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Midface retrusion, Craniosynostosis, Brachycephaly |
OMIM:612247 |
Matthew-Wood Syndrome |
|
Anophthalmia, Intrauterine growth retardation, Microphthalmia |
ORPHA:2470 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Potocki-Shaffer Syndrome |
|
Turricephaly, Wormian bones, Brachycephaly, Parietal foramina |
OMIM:601224 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Thin calvarium, Microcephaly, Brachycephaly |
OMIM:122900 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Kleefstra Syndrome 2 |
|
Plagiocephaly, Midface retrusion, Microcephaly |
OMIM:617768 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Anophthalmia, Aniridia, Dolichocephaly, Umbilical hernia |
ORPHA:1101 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Intrauterine growth retardation |
ORPHA:90322 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Hydrolethalus |
|
Anophthalmia, Microphthalmia |
ORPHA:2189 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:610125 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Cebalid Syndrome |
|
Plagiocephaly, Brachycephaly, Platystencephaly, Turricephaly, Midface retrusion, Dolichocephaly |
OMIM:618774 |
Menkes Disease |
|
Intrauterine growth retardation, Wormian bones, Microcephaly, Brachycephaly |
OMIM:309400 |
Walker-Warburg Syndrome |
|
Anophthalmia, Microphthalmia, Microcephaly |
ORPHA:899 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:77298 |
Classic Phenylketonuria |
|
Self-injurious behavior, Cataract, Mental deterioration, Motor deterioration, Memory impairment |
ORPHA:79254 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Brachycephaly |
OMIM:614416 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Monilethrix |
|
Cognitive impairment, Cataract |
ORPHA:573 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Trisomy 1Q |
|
Frontal bossing, Anophthalmia |
ORPHA:261344 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Midface retrusion |
OMIM:218350 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Brachycephaly |
OMIM:613456 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Bresek Syndrome |
|
Plagiocephaly, Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Microcephaly |
ORPHA:85284 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Fibular Hemimelia |
|
Anophthalmia, Spina bifida, Craniosynostosis |
ORPHA:93323 |
Holoprosencephaly |
|
Flat occiput, Microphthalmia, Anophthalmia, Frontal bossing, Branchial anomaly, Spinal dysraphism... |
ORPHA:2162 |
Fetal Trimethadione Syndrome |
|
Midface retrusion, Intrauterine growth retardation, Microcephaly, Brachycephaly |
ORPHA:1913 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Intrauterine growth retardation |
OMIM:601186 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Intrauterine growth retardation, Spina bifida, Microphthalmia |
ORPHA:3412 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Cranial asymmetry, Aplasia/Hypoplasia of the optic nerve |
ORPHA:137634 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Brachycephaly, Frontal bossing, Coronal craniosy... |
ORPHA:228390 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Craniosynostosis, Brachycephaly |
ORPHA:314575 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Midface retrusion, Microcephaly |
OMIM:610829 |
Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Craniosynostosis, Trigonocephaly |
OMIM:618265 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Optic nerve aplasia, Brachycephaly |
ORPHA:264200 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Microgastria-Limb Reduction Defect Syndrome |
|
Plagiocephaly, Anophthalmia, Microphthalmia, Frontal bossing |
ORPHA:2538 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Cdags Syndrome |
|
Brachycephaly, Parietal foramina, Frontal bossing, Delayed cranial suture closure, Coronal cranio... |
OMIM:603116 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Acquired Methemoglobinemia |
|
Anxiety, Methemoglobinemia |
ORPHA:464453 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... |
ORPHA:79239 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... |
ORPHA:231222 |
Humeroradial Synostosis With Craniofacial Anomalies |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:236410 |
Craniofacial Microsomia |
|
Anophthalmia, Branchial anomaly, Microphthalmia |
OMIM:164210 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cranial asymmetry, Delayed closure of the anterior fontanelle, Scaphocephaly, Wide anterior fonta... |
OMIM:614886 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Osteogenesis Imperfecta, Type Xx |
|
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Wormian bones, Midface retrusion, ... |
OMIM:618644 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Midface retrusion, Microphthalmia, Microcephaly |
ORPHA:2556 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Meckel Syndrome |
|
Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris, Microcephaly |
ORPHA:564 |
Microgastria-Limb Reduction Defects Association |
|
Anophthalmia |
OMIM:156810 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... |
ORPHA:124 |
Fraser Syndrome 1 |
|
Myelomeningocele, Anophthalmia, Microcephaly, Bilateral microphthalmos, Calvarial skull defect |
OMIM:219000 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Keratitis, Cataract, Mental deterioration, Corneal neovascularization... |
OMIM:278730 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Craniosynostosis, Microcephaly, Brachycephaly |
ORPHA:2163 |
Warburg Micro Syndrome 2 |
|
Secondary microcephaly, Microphthalmia, Microcephaly, Brachycephaly |
OMIM:614225 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Fraser Syndrome |
|
Microphthalmia, Myelomeningocele, Anophthalmia, Microcephaly, Umbilical hernia, Calvarial skull d... |
ORPHA:2052 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Microphthalmia, Microcephaly |
ORPHA:2526 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Proboscis |
ORPHA:141099 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Microphthalmia, Syndromic 6 |
|
Plagiocephaly, Microphthalmia, Brachycephaly, Anophthalmia, Midface retrusion, Microcephaly, Lamb... |
OMIM:607932 |
Charge Syndrome |
|
Anophthalmia, Intrauterine growth retardation, Microphthalmia, Microcephaly |
ORPHA:138 |
Linear Nevus Sebaceus Syndrome |
|
Plagiocephaly, Microphthalmia, Biparietal narrowing, Frontal bossing, Prominent occiput |
ORPHA:2612 |
Focal Dermal Hypoplasia |
|
Microphthalmia, Myelomeningocele, Anophthalmia, Aniridia, Spina bifida occulta, Umbilical hernia,... |
OMIM:305600 |
Crouzon Syndrome |
|
Brachycephaly, Frontal bossing, Coronal craniosynostosis, Sagittal craniosynostosis, Lambdoidal c... |
OMIM:123500 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Cognitive impairment, Anemia, Memory... |
ORPHA:330015 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Microphthalmia, Umbilical hernia, Microcephaly |
OMIM:300166 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Branchial anomaly, Dolichocephaly,... |
OMIM:113620 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Plagiocephaly, Brachycephaly, Parietal foramina, Frontal bossing, Wid... |
ORPHA:85199 |
Thymoma |
|
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Cataract, Band keratopathy, Keratoconjunctivitis |
OMIM:269200 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Brachycephaly, Rieger anomaly, Prominent metopic ridge, Microcephaly |
ORPHA:521445 |
Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Androgen Insensitivity Syndrome |
|
Male infertility |
ORPHA:754 |
47,Xyy Syndrome |
|
Oligospermia, Male infertility, Azoospermia |
ORPHA:8 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Umbilical hernia, Microcephaly |
OMIM:214800 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Primary amenorrhea |
ORPHA:99429 |
Partial Androgen Insensitivity Syndrome |
|
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia |
ORPHA:90797 |
Saethre-Chotzen Syndrome |
|
Plagiocephaly, Buphthalmos, Brachycephaly, Skull asymmetry, Oxycephaly, Parietal foramina, Corona... |
OMIM:101400 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility |
ORPHA:90793 |
Frontofacionasal Dysplasia |
|
Midface retrusion, Microphthalmia, Hypoplasia of the frontal bone, Brachycephaly |
OMIM:229400 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism |
ORPHA:85450 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism |
ORPHA:91 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Cranial asymmetry |
OMIM:163200 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Microphthalmia, Microcephaly |
OMIM:309800 |
Opitz Gbbb Syndrome, Type Ii |
|
Frontal bossing, Craniosynostosis, Umbilical hernia, Cranial asymmetry |
OMIM:145410 |
Bloom Syndrome |
|
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia |
ORPHA:125 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... |
ORPHA:251510 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Chordee, Male infertility, Streak ovary, Azoospermia |
ORPHA:1772 |
Cystinosis, Nephropathic |
|
Male hypogonadism, Male infertility |
OMIM:219800 |
Wiedemann-Rautenstrauch Syndrome |
|
Severe intrauterine growth retardation, Thickened calvaria, Intrauterine growth retardation, Cran... |
ORPHA:3455 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
Noonan Syndrome 1 |
|
Hypogonadism, Male infertility |
OMIM:163950 |