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Gene: Ubl7 MGI:1916709

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Gene Summary

Name:
ubiquitin-like 7 (bone marrow stromal cell-derived)
Synonyms:
2300004C15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Ubl7em1(IMPC)Tcp HOM   Early adult 6.78×10-05
impaired contextual conditioning behavior Ubl7em1(IMPC)Tcp HOM   Early adult 5.73×10-05
abnormal pancreas morphology Ubl7em1(IMPC)Tcp HOM Early adult 0.00
increased startle reflex Ubl7em1(IMPC)Tcp HOM Early adult 9.60×10-06
increased mean corpuscular hemoglobin Ubl7em1(IMPC)Tcp HOM Early adult 6.48×10-05
increased mean corpuscular volume Ubl7em1(IMPC)Tcp HOM   Early adult 5.27×10-05
irregularly shaped pupil Ubl7em1(IMPC)Tcp HOM   Early adult 7.30×10-05
prolonged RR interval Ubl7em1(IMPC)Tcp HOM   Early adult 2.97×10-06
narrow eye opening Ubl7em1(IMPC)Tcp HOM Early adult 5.88×10-05
increased hemoglobin content Ubl7em1(IMPC)Tcp HOM Early adult 3.26×10-06
male infertility Ubl7em1(IMPC)Tcp HOM Early adult 0.00
decreased heart rate Ubl7em1(IMPC)Tcp HOM   Early adult 2.66×10-05
cataract Ubl7em1(IMPC)Tcp HOM   Early adult 9.21×10-05
increased blood urea nitrogen level Ubl7em1(IMPC)Tcp HOM Early adult 2.59×10-08
abnormal sternum morphology Ubl7em1(IMPC)Tcp HOM Early adult 0.00
microphthalmia Ubl7em1(IMPC)Tcp HOM Early adult 0.00
increased hematocrit Ubl7em1(IMPC)Tcp HOM Early adult 5.06×10-07
hyperactivity Ubl7em1(IMPC)Tcp HOM Early adult 8.24×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

98 Images

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Eye Morphology

Images Slit Lamp

57 Images

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Histopathology

Images

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Ubl7 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 Ubl7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Retinal dysplasia, Neutropenia... OMIM:617052
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Cln3 Disease
Cataract, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Pig... ORPHA:228346
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Persistence of hemoglobin F, Incr... OMIM:300946
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Proximal placement of thumb, Cryptorchidism, Dilat... ORPHA:261250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Hyperhomocystinemia, Hypertension... ORPHA:2169
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Diamond-Blackfan Anemia 6
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, Increased mean... OMIM:612561
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hyp... OMIM:618815
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... ORPHA:98870
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine conce... OMIM:617872
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Cataract, Cardiomyopathy, Dementia, Hypogonadism, Bradycardia, D... OMIM:609286
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... ORPHA:85167
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Macular degeneration, Hepatic fibrosis... ORPHA:48818
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, Hypogonadism, Microphthalmia ORPHA:2528
Coenzyme Q10 Deficiency, Primary, 7
Epicanthus, Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Abnormal retinal morphology, A... ORPHA:40366
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Confusion, Myocardial infarction, Tremor, Jaundice, S... OMIM:274150
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive be... OMIM:152950
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpus... ORPHA:90041
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Tempi Syndrome
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia ORPHA:284227
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Cockayne Syndrome Type 1
Hepatomegaly, Cataract, Anophthalmia, Tremor, Cryptorchidism, Optic atrophy, Uveitis, Hypertensio... ORPHA:90321
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase, Dysphagia OMIM:620265
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Hyp... OMIM:618805
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Tapered finger, Long fingers, Atrioventricular block, Joint contracture of the 5th... OMIM:614407
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
2Q24 Microdeletion Syndrome
Cataract, Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... ORPHA:1617
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertroph... OMIM:204200
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, High-output con... ORPHA:231226
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Congestive heart failure, Decreased plasma free carnitine, Bradycardia, Hyperalanin... OMIM:619048
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Gombo Syndrome
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Orbital cyst OMIM:251505
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... ORPHA:2760
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre... OMIM:616299
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... OMIM:616860
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... ORPHA:231214
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Epicanthus, Tricuspid stenosis, Congenital hypoplastic anemi... OMIM:105650
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Diamond-Blackfan Anemia
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Elevated ... ORPHA:124
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Microphthalmia, Corneal opacity ORPHA:2432
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Dystonia OMIM:616277
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
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... ORPHA:97214
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hyperammonemia, Bradycardia, Dystonia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Bilateral ptosis, Elevated circulating creatinine concentr... ORPHA:230
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Progressive psychomotor deterioration, Abnormal retinal morphology on macular OCT,... ORPHA:251004
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura... OMIM:606069
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Downslanted palpe... ORPHA:195
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental... ORPHA:2119
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Hyphema, Leuk... OMIM:221900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... OMIM:235400
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... ORPHA:542306
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Hypogonadi... ORPHA:1466
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Anemia, Cognitive impairment, Microp... ORPHA:858
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology, Sparse lateral eyebrow ORPHA:170
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Pro... ORPHA:95717
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tac... OMIM:212138
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis OMIM:300915
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Pierpont Syndrome
Prominent fingertip pads, Telecanthus, Cryptorchidism, Short toe, Microcornea, Narrow palpebral f... OMIM:602342
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, No... OMIM:618775
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Hypocalcemia, Del... ORPHA:94093
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612926
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Cryptorchidism, Optic atrophy, Dysphagia, Self-injurious behavior, Hip dysplasia, Ast... ORPHA:494344
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Temtamy Syndrome
Aortic regurgitation, Highly arched eyebrow, Ectopia lentis, Lens luxation, Self-mutilation, Hip ... OMIM:218340
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia, Dystonia OMIM:614654
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Cataract, Postural tremor, Decre... ORPHA:79239
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612924
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Brachydactyly, Reduced circulating prolactin concen... OMIM:223360
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gl... ORPHA:2969
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612925
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iri... OMIM:610023
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Ch... OMIM:127550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Microcornea, Long eyelashes, Mi... ORPHA:48431
Warburg Micro Syndrome 1
Overlapping toe, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalm... OMIM:600118
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Diamond-Blackfan Anemia 7
Macrocytic anemia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Neutropenia OMIM:612562
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Temtamy Syndrome
Telecanthus, Brachydactyly, Short toe, Chorioretinal coloboma, Clinodactyly of the 5th finger, Mi... ORPHA:1777
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Fifth finger distal phalanx clinodactyly, Br... OMIM:257850
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Down-sloping shoulders, Upslanted palpebral fissure, Astigmatism, Camptodactyly, Long p... OMIM:619694
Xeroderma Pigmentosum, Complementation Group G
Tremor, Microphthalmia, Cataract OMIM:278780
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... ORPHA:91500
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Elevated circulating creatine kinase concentration OMIM:160565
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Heart block, Splenomegaly, Cardi... ORPHA:773
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Pierpont Syndrome
Telecanthus, Cryptorchidism, Short toe, Microcornea, Narrow palpebral fissure, Short finger, Prom... ORPHA:487825
Alagille Syndrome
Keratoconus, Hepatomegaly, Hypoplasia of the ulna, Telangiectasia of the skin, Corneal dystrophy,... ORPHA:52
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Uveitis, Leukopenia, Hypoalbuminemi... ORPHA:99826
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy, Primary amenorrhea OMIM:616947
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus, Hypertensi... ORPHA:3299
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Abn... ORPHA:447
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Elevated circulating creatine kinase concentration, Developmental cataract, Ab... OMIM:613155
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology, Pro... ORPHA:95716
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... OMIM:601005
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Epicanthus, Hyperactivity, Highly arched eyebrow, Autoimmune throm... OMIM:301069
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Hypergonadotropic hypogonadism, Tremor, Elevated circulating phytanic acid concentratio... OMIM:614307
Glutamine Deficiency, Congenital
Hypoglutaminemia, Bradycardia, Hyperammonemia, Camptodactyly OMIM:610015
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Short Syndrome
Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the... ORPHA:3163
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Megaloblastic anemia, Tremor, Optic atrophy, Limited mobility of ... OMIM:222300
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Brachydactyly, Optic disc hypoplasia, Ble... ORPHA:233
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Broad hallux, Sandal gap, Clinodactyly, Optic atrophy, Ectopia pupillae, Astigmatism, M... OMIM:618727
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Thin ribs, Bradycardia, Thrombocytopenia OMIM:617397
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Sheehan Syndrome
Hyponatremia, Dyspareunia, Orthostatic hypotension, Decreased female libido, Reduced circulating ... ORPHA:91355
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Hyperactivity, Optic atrophy OMIM:274270
Acute Interstitial Pneumonia
Hypertension, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circula... ORPHA:79126
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Abnormal eyelash mo... ORPHA:3378
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Perlman Syndrome
Hepatomegaly, Epicanthus, Cryptorchidism, Abnormal pancreas morphology, Ptosis ORPHA:2849
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Proximal placement of... ORPHA:139471
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Lujo Hemorrhagic Fever
Shock, Resting tremor, Confusion, Elevated circulating C-reactive protein concentration, Myocardi... ORPHA:319213
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Crumpled long bones, Corneal opacity, Metaphyseal widening, Abnormal vitreous... ORPHA:2788
Congenital Myopathy 22A, Classic
Hip contracture, Tricuspid regurgitation, Bilateral ptosis, Synophrys, Bradycardia, Congenital fi... OMIM:620351
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul... OMIM:261600
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Congenital Fibrinogen Deficiency
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Developmental catara... ORPHA:335
Microphthalmia, Syndromic 8
Cryptorchidism, Microcornea, Split foot, Blepharophimosis, Microphthalmia, Short palpebral fissure OMIM:601349
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... ORPHA:49041
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Cataract... ORPHA:3156
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglob... ORPHA:534
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Prolonged neonatal j... ORPHA:226313
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Necrotizing Enterocolitis
Hyponatremia, Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Thrombocyt... ORPHA:391673
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Fanconi Anemia, Complementation Group S
Epicanthus, Proximal placement of thumb, Ovarian neoplasm, Upslanted palpebral fissure, Long eyel... OMIM:617883
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract ORPHA:324416
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Proximal femo... ORPHA:168549
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Familial Dysautonomia
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Corneal opaci... ORPHA:1764
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopeni... ORPHA:90051
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Telecanthus, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:619927
D-Glyceric Aciduria
Optic nerve hypoplasia, Tongue thrusting, Nonketotic hyperglycinemia, Opisthotonus, Bradycardia OMIM:220120
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Anophthalmia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupill... OMIM:615877
Pituitary Apoplexy
Hyponatremia, Ptosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... ORPHA:95613
Nephronophthisis 11
Anisocoria, Anemia, Hepatic fibrosis, Polydipsia, Retinal degeneration OMIM:613550
Distal Deletion 6P
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... ORPHA:96125
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy ORPHA:363741
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... ORPHA:330001
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae, Cognitive impairment ORPHA:1885
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... ORPHA:1791
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Epicanthus, Cataract, Coxa valga, Flat acetabular roof, Flattened epiphysis, ... ORPHA:163649
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev... OMIM:613327
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Epicanthus, Cataract, Broad hallux, Retinal pigment epithelial mottling, ... OMIM:614105
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia OMIM:608800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Abnormal pupil morphology ORPHA:2151
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Jacobsen Syndrome
Epicanthus, Telecanthus, Brachydactyly, Missing ribs, Abnormal eyelash morphology, Cryptorchidism... OMIM:147791
16P12.1P12.3 Triplication Syndrome
Unilateral ptosis, Hallux valgus, Tachycardia, Epicanthus, Thick eyebrow, Decreased response to g... ORPHA:485405
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Short thumb, 2-3 toe syndact... ORPHA:2712
Isolated Thyroid-Stimulating Hormone Deficiency
Thyroid hypoplasia, Delayed proximal femoral epiphyseal ossification, Pituitary hypothyroidism, B... ORPHA:90674
Mmep Syndrome
Microphthalmia, Cryptorchidism, Split foot, Triphalangeal thumb ORPHA:3434
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acquired Methemoglobinemia
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Atelis Syndrome 2
Epicanthus, Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Anemia, Vitr... OMIM:620185
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot OMIM:616570
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia OMIM:614498
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Cataract, Proximal placement of thumb, Abnormal rib morphology, Abnorma... ORPHA:93267
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Epicanthus, Polydactyly, Microphthalmia, Leukemia, Downslanted palpebral fissures OMIM:602501
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia, Opisthotonus OMIM:619814
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Bardet-Biedl Syndrome 9
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Postaxial polydacty... OMIM:615986
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Frontonasal Dysplasia 1
Epicanthus, Cataract, Brachydactyly, Postaxial hand polydactyly, Radial deviation of finger, Camp... OMIM:136760
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Cryptorchidism, Leg dystonia, Bradycardia, Prominent calcaneus ORPHA:565624
Walker-Warburg Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Anopht... ORPHA:899
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Dysphagia, Microphthalmia OMIM:612379
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ... OMIM:175780
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Martsolf Syndrome 1
Osteopathia striata, Finger joint hypermobility, Short palm, Short phalanx of finger, Short metac... OMIM:212720
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Chromosome 2Q37 Deletion Syndrome
Short fourth metatarsal, Short metacarpal, Hyperactivity, Highly arched eyebrow, Aggressive behav... OMIM:600430
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp... OMIM:615145
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Isolated Atp Synthase Deficiency
Hepatomegaly, Cataract, Dilated cardiomyopathy, Optic atrophy, Hyperammonemia, Hypogonadism, Arrh... ORPHA:254913
Baraitser-Winter Syndrome 1
Epicanthus, Highly arched eyebrow, Cryptorchidism, Duplication of phalanx of hallux, Chorioretina... OMIM:243310
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Moebius Syndrome
Syndactyly, Epicanthus, Brachydactyly, Hypogonadotropic hypogonadism, Split hand, Dysphagia, Cong... OMIM:157900
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Woolly Hair Nevus
Brachydactyly, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Cerebrooculofacioskeletal Syndrome 1
Cataract, Rocker bottom foot, Progressive neurologic deterioration, Coxa valga, Cryptorchidism, S... OMIM:214150
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
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Levator palpebrae s... ORPHA:45358
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Finger syndactyly, Arachnodactyly, ... ORPHA:193
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Hyperactivity, Hyperopic astigm... ORPHA:397973
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Epicanthus, Hyperactivity, Overfriendliness, Restlessness, Aggressive behavior, Crypt... ORPHA:369891
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Optic disc coloboma, Hypoplas... OMIM:169550
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi... OMIM:615297
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Ankyloblepha... OMIM:619339
Microphthalmia With Limb Anomalies
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot... OMIM:206920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... OMIM:615181
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Infant Botulism
Hyponatremia, Ptosis, Cardiac arrest, Anorexia, Hypertension, Keratoconjunctivitis sicca, Hypoten... ORPHA:178478
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Anorexia, Abnormality of the me... ORPHA:330015
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Serotonin Syndrome
Restlessness, Tachycardia, Confusion, Tremor, Hypertension, Agitation, Hypotension, Mental deteri... ORPHA:43116
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Freq... OMIM:620141
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Supernumerary nipple, Aggressive behavior, Sparse eyebrow, Synophrys, 2-3 toe syndact... OMIM:620098
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Hepatomegaly, Cataract, Cryptorchidism, Microphthalmia OMIM:613730
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Trisomy 9P
Clinodactyly of the 5th finger, Abnormal pupil morphology, Downslanted palpebral fissures, Brachy... ORPHA:236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:613153
Alexander Disease
Microcoria OMIM:203450
Incontinentia Pigmenti
Uveitis, Finger syndactyly, Abnormal chorioretinal morphology, Absent hand, Deviation of finger, ... ORPHA:464
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Microphthalmia, Lenz Type
Finger syndactyly, Cataract, Camptodactyly of finger, Cryptorchidism, Optic disc coloboma, Ankylo... ORPHA:568
Subaortic Stenosis-Short Stature Syndrome
Epicanthus, Biliary tract abnormality, Microphthalmia, Arrhythmia, Abnormal circulating lipid con... ORPHA:3191
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital cyst, Eyelid coloboma, Micropht... OMIM:164180
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Dubowitz Syndrome
Syndactyly, Epicanthus, Telecanthus, Aplastic anemia, Hyperactivity, Short attention span, Crypto... OMIM:223370
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Postaxial polydactyly, Cryptorchidism, Bilateral ptosis, 2-3 toe syndactyl... ORPHA:404440
Spondylo-Ocular Syndrome
Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Microp... ORPHA:85194
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Impulsivity, Aggressive behavior, Lens coloboma, 2-3 toe syndactyly, Self-injurious b... OMIM:618914
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Epicanthus, Cataract, Telecanthus, Palpebral edema, Blepharophimosis, Congesti... OMIM:181270
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Epicanthus, Hyperactivity, Optic nerve hypoplasia, Hyperopic astigmatism, Long fingers,... ORPHA:363686
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Atrial fibrillation, Abnormal eyelid morphology, Keratitis, Splenome... ORPHA:525731
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... OMIM:618223
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Epicanthus, Microcytic anemia, Cryptorchidism, Short toe, Downslanted palpebral fissures, HbH hem... ORPHA:98791
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... ORPHA:370959
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly, Downslanted palpebral fissures, Thrombocytopenia OMIM:619981
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Impulsivity, Aggressive... OMIM:261990
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Epicanthus, Telecanthus, Band keratopathy, Phthisis bulbi,... OMIM:267750
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... OMIM:615184
Refsum Disease, Classic
Short fourth metatarsal, Cataract, Congestive heart failure, Elevated circulating phytanic acid c... OMIM:266500
3P25.3 Microdeletion Syndrome
Epicanthus, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Congenita... ORPHA:435638
Unilateral Ocular Duplication
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma ORPHA:3374
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,... OMIM:208500
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calc... OMIM:127000
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Sandal gap, Highly arched eyebrow, Pulmonary arterial hypertension, Microphtha... OMIM:300887
Sandestig-Stefanova Syndrome
Epicanthus, Laterally extended eyebrow, Rocker bottom foot, Highly arched eyebrow, Developmental ... OMIM:618804
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Galactosemia I
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conj... OMIM:278730
Jacobsen Syndrome
Microcornea, Eyelid coloboma, Long hallux, Iris coloboma, Broad hallux phalanx, Finger syndactyly... ORPHA:2308
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Cataract, Portal hypertension, Con... ORPHA:974
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Opisthotonus OMIM:619272
Nance-Horan Syndrome
Retinal detachment, Short metacarpal, Cataract, Microcornea, Microphthalmia ORPHA:627
8Q21.11 Microdeletion Syndrome
Ptosis, Epicanthus, Cataract, Corneal opacity, Finger syndactyly, Sclerocornea, Camptodactyly of ... ORPHA:284160
Trichinellosis
Confusion, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abno... ORPHA:863
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Anterior rib cupping, Metaphyseal sclerosis, ... OMIM:260400
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Anisocytosis, Microvesicular hepatic s... OMIM:618278
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Ventricular arrhythmia, Confusion, Autoimmune hypoparathyroidism... ORPHA:36913
Trichothiodystrophy 3, Photosensitive
Cataract, Bilateral cryptorchidism, Developmental cataract, Neutropenia, Microphthalmia, Lymphope... OMIM:616395
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Thrombocytopenia, Le... OMIM:259720
Hartsfield Syndrome
Telecanthus, Split hand, Aplasia/Hypoplasia of the radius, Microphthalmia, Downslanted palpebral ... ORPHA:2117
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Fanconi Anemia, Complementation Group D2