Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ubl7 MGI:1916709

Gene Summary

Name:

ubiquitin-like 7 (bone marrow stromal cell-derived)

Synonyms:

2300004C15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
microphthalmia	Ubl7^em1(IMPC)Tcp	HOM	Early adult	0.00
increased hemoglobin content	Ubl7^em1(IMPC)Tcp	HOM	Early adult	3.26×10^-06
male infertility	Ubl7^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased heart rate	Ubl7^em1(IMPC)Tcp	HOM	Early adult	2.66×10^-05
increased blood urea nitrogen level	Ubl7^em1(IMPC)Tcp	HOM	Early adult	2.59×10^-08
increased mean corpuscular volume	Ubl7^em1(IMPC)Tcp	HOM	Early adult	5.27×10^-05
increased mean corpuscular hemoglobin	Ubl7^em1(IMPC)Tcp	HOM	Early adult	6.48×10^-05
abnormal sternum morphology	Ubl7^em1(IMPC)Tcp	HOM	Early adult	0.00
cataract	Ubl7^em1(IMPC)Tcp	HOM	Early adult	9.21×10^-05
narrow eye opening	Ubl7^em1(IMPC)Tcp	HOM	Early adult	5.88×10^-05
irregularly shaped pupil	Ubl7^em1(IMPC)Tcp	HOM	Early adult	7.30×10^-05
prolonged RR interval	Ubl7^em1(IMPC)Tcp	HOM	Early adult	2.97×10^-06
increased startle reflex	Ubl7^em1(IMPC)Tcp	HOM	Early adult	9.60×10^-06
abnormal pancreas morphology	Ubl7^em1(IMPC)Tcp	HOM	Early adult	0.00
impaired contextual conditioning behavior	Ubl7^em1(IMPC)Tcp	HOM	Early adult	5.73×10^-05
abnormal retina morphology	Ubl7^em1(IMPC)Tcp	HOM	Early adult	6.78×10^-05
hyperactivity	Ubl7^em1(IMPC)Tcp	HOM	Early adult	8.24×10^-05
increased hematocrit	Ubl7^em1(IMPC)Tcp	HOM	Early adult	5.06×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Eye Morphology

Images Ophthalmoscopy

98 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Eye Morphology

Images Slit Lamp

57 Images

View images

Histopathology

Images

18 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Gross Pathology and Tissue Collection

Images

10 Images

View images

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.

Human diseases associated with Ubl7 (0 diseases)
Human diseases predicted to be associated with Ubl7 (973 diseases)

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	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	Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short ...	OMIM:227646
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Bowing of the legs, Leukocoria, Telangiectasia, Hypertension, Short lower limbs	OMIM:219250
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh...	ORPHA:2714
Warburg Micro Syndrome 3	Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Clinodact...	OMIM:614222
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Delayed proximal femoral ...	ORPHA:90673
Neurooculocardiogenitourinary Syndrome	Epicanthus, Tricuspid regurgitation, Bilateral cryptorchidism, Peters anomaly, Microphthalmia	OMIM:618652
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, H...	ORPHA:959
Adams-Oliver Syndrome 2	Optic atrophy, Developmental cataract, Narrow palpebral fissure, Absent distal phalanges, Short m...	OMIM:614219
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Congenital hip dislocation, Absent eyelas...	OMIM:268400
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f...	ORPHA:247585
Microphthalmia, Isolated 8	Retinal detachment, Entropion, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re...	OMIM:615113
Congenital Disorder Of Glycosylation, Type Im	Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated cardiomyop...	OMIM:610768
2Q31.1 Microdeletion Syndrome	Synophrys, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, Iris coloboma, ...	ORPHA:251014
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Anorexia, Tremor, Oral-pharyngeal dysphagia, Aggressive behavior,...	ORPHA:2131
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Wound Botulism	Ptosis, Cardiac arrest, Dysphagia, Mydriasis	ORPHA:178475
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
3-Methylglutaconic Aciduria, Type Viii	Cataract, Dystonia, Tremor, Jaundice, Dysphagia, Bradycardia, Neutropenia	OMIM:617248
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Cataract, Elevated circulating creatine kinase concentration, Tremor, Hemat...	ORPHA:79095
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Overlapping toe, Highly arched eyebrow, Supernumerary nipple, Tapered finger, Cryptor...	OMIM:618653
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypocalcemia, Aniridia, Microphthalmia...	OMIM:602361
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Supr...	ORPHA:99829
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Epicanthus, Cataract, Short metacarpal, Sclerocornea, Cryptorchidism, Pigmentary reti...	OMIM:614230
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Acute pancreatit...	ORPHA:466677
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Biemond Syndrome Type 2	Hypogonadism, Microphthalmia, Preaxial polydactyly, Hypogonadotropic hypogonadism	ORPHA:141333
Stiff-Person Syndrome	Tachycardia, Exaggerated startle response, Opisthotonus, Hypertension, Anemia	OMIM:184850
46,Xy Sex Reversal 4	Upslanted palpebral fissure, Hypergonadotropic hypogonadism, Elevated circulating creatinine conc...	OMIM:154230
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Brushfield ...	OMIM:214110
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Missing ribs, Cryptorchidism, Optic atrophy, Abnormal rib morpho...	ORPHA:3301
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Thickened ribs, Progressive neurologic deterioration, Aggressive beh...	OMIM:252920
Blepharophimosis, Ptosis, And Epicanthus Inversus	Ptosis, Telecanthus, Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, ...	OMIM:110100
Holoprosencephaly	Anophthalmia, Abnormality of the spleen, Synophrys, Chorioretinal coloboma, Iris coloboma, Hypona...	ORPHA:2162
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Fanconi Anemia	Abnormal eyelid morphology, Abnormal femur morphology, Leukopenia, Abnormality of the liver, Trip...	ORPHA:84
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Fifth finger distal phalanx ...	ORPHA:2839
Hallermann-Streiff Syndrome	Hyperactivity, Cataract, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Metaphyseal widening, ...	OMIM:234100
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Decreased res...	ORPHA:226307
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ectropion, Arachnodactyly, Abnormal thumb morphology, Cryptorchidism, ...	ORPHA:2719
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Epicanthus, Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping, Downsl...	OMIM:617101
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Long palpebral fissure, Microphthalmia, Ptosis	OMIM:614583
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Cataract, Overlapping toe, Narrow palpebral fissure, Astigmatism, Retinal coloboma, H...	OMIM:618571
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Thickened ribs, Splenomegaly, Synophrys, Motor deterioration, Asymme...	OMIM:252930
Warburg Micro Syndrome 4	Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Decreased tes...	OMIM:615663
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:91547
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Retinal dysplasia, Mi...	OMIM:615665
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Epicanthus, Overlapping fingers, Overlapping toe, Aggressive behavior, Sparse ...	ORPHA:464738
Meckel Syndrome	Accessory spleen, Bowing of the long bones, Cataract, Abnormal chorioretinal morphology, Pancreat...	ORPHA:564
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia	OMIM:614653
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Highly arched eyebrow, Cryptorchidism, Ulnar bowing, Short 1st metacarpal...	OMIM:619135
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Supernumerary nipple, Retina...	OMIM:308300
Encephalitis Lethargica	Tremor, Mental deterioration, Bradycardia	ORPHA:83600
Developmental And Epileptic Encephalopathy 1	Choreoathetosis, Microphthalmia, Dysphagia, Dystonia	OMIM:308350
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Foodborne Botulism	Ptosis, Arrhythmia, Dysphagia, Mydriasis	ORPHA:228371
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Cataract, Portal hypertension, Tape...	OMIM:620005
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Mi...	ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m...	OMIM:613150
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryp...	OMIM:227650
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Rocker bottom foot, Developmental cataract, Microphthalmia	OMIM:610756
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Monosomy 18P	Ptosis, Epicanthus, Generalized dystonia, Hypertension, Microphthalmia, Brachydactyly	ORPHA:1598
Mend Syndrome	Telecanthus, Cataract, Broad hallux, Overlapping fingers, Overlapping toe, Hyperactivity, Aggress...	ORPHA:401973
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Cataract, Toe syndactyly, Cryptorchidism, Short foot, Hand poly...	ORPHA:250989
Neuroocular Syndrome	Hyperextensibility of the finger joints, Synophrys, Lens coloboma, Microcornea, Prominent fingert...	OMIM:619539
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Sclerocornea, Dilated cardiomyopathy, Ventricular tac...	OMIM:300952
Bohring-Opitz Syndrome	Retinal atrophy, Synophrys, Optic atrophy, Bradycardia, Metacarpophalangeal joint contracture, Ch...	ORPHA:97297
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia, Ankyloblepharon, Sclerocornea	OMIM:611038
Myoclonic-Astatic Epilepsy	Syndactyly, Hyperactivity, Tremor, Attention deficit hyperactivity disorder, Microphthalmia	ORPHA:1942
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:615524
Duane-Radial Ray Syndrome	Syndactyly, Epicanthus, Cataract, Optic disc hypoplasia, Hypoplasia of the ulna, Sandal gap, Abse...	OMIM:607323
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Anorexia, Thrombocytopenia...	OMIM:557000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Microphthal...	OMIM:615249
Revesz Syndrome	Aplastic anemia, Progressive neurologic deterioration, Leukocoria, Exudative retinopathy, Megaloc...	OMIM:268130
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Morning glory anomaly, Postaxial polydactyly, Optic atrophy, I...	OMIM:614424
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Congestive heart failure, Cryptorchidism, Microcornea, Microphthalmia, Retinopathy	ORPHA:2505
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Oral-pharyngeal dysphagia	ORPHA:221098
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Sparse eyebrow, Neonatal epiphyseal stippling, Hip dislocation, Anter...	ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ...	OMIM:253800
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Mi...	OMIM:614225
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Clinodactyly of the 5th fin...	OMIM:617306
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Optic atrophy, Decreased fertility, Microcornea, Keratoconjunctivit...	OMIM:234050
Kapur-Toriello Syndrome	Cataract, Overlapping fingers, Camptodactyly of finger, Cryptorchidism, Short thumb, Retinal colo...	OMIM:244300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Epicanthus, Overlapping fingers, Overlapping toe, Cryptorchidism, Hip dysplasia, Dysphagia, Promi...	OMIM:618494
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Cousin Syndrome	Hypoplastic scapulae, Dislocation of the femoral head, Hypoplastic ischia, 4-5 toe syndactyly, Hu...	OMIM:260660
3Q29 Microdeletion Syndrome	Cataract, Tapered finger, Aggressive behavior, Pulmonary arterial hypertension, Attention deficit...	ORPHA:65286
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Intracranial ...	OMIM:613406
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne...	OMIM:601552
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Bilate...	ORPHA:93325
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Wolf-Hirschhorn Syndrome	Abnormal repetitive mannerisms, Iris coloboma, Accessory spleen, Pseudoepiphyses of the metacarpa...	OMIM:194190
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Corneal opacity, Camptodactyly of ...	ORPHA:2092
Trisomy 18	Abnormality of retinal pigmentation, Epicanthus, Cataract, Camptodactyly of finger, Cryptorchidis...	ORPHA:3380
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Synophrys, Self-injurious behavior, Microphthalmia	ORPHA:261272
Castleman Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jaundice, Decreased mean...	ORPHA:160
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Camptodactyly of toe, Aniridia, Microphthalmi...	ORPHA:251038
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent thumb, Shor...	OMIM:609053
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Anophthalmia, C...	OMIM:610125
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Anterior rib cupping, Metaphyseal widening, Genu varum, Metaphys...	OMIM:617941
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Anorexia, Clubbing, Hematochezia, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypom...	OMIM:175500
Cerebrooculofacioskeletal Syndrome 4	Abnormal retinal morphology, Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmo...	OMIM:610758
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Ring Chromosome 10 Syndrome	Sandal gap, Tapered finger, Hypocalcemia, Microphthalmia, Downslanted palpebral fissures	ORPHA:1438
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Joubert Syndrome 37	Hepatomegaly, Postaxial polydactyly, Cryptorchidism, Microphthalmia, Decreased testicular size, P...	OMIM:619185
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Hypert...	OMIM:232220
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th finger, Ab...	ORPHA:508498
Cockayne Syndrome	Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Intention tremor, Hepatomegal...	ORPHA:191
Cockayne Syndrome Type 3	Optic disc pallor, Hepatomegaly, Retinal atrophy, Retinal dystrophy, Cataract, Progressive neurol...	ORPHA:90324
Iatrogenic Botulism	Ptosis, Orthostatic hypotension, Dysphagia, Mydriasis	ORPHA:254509
Wagro Syndrome	Cataract, Corneal opacity, Aggressive behavior, Polyphagia, Hypertension, Agitation, Compulsive b...	OMIM:612469
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Preaxial polydactyly, Microcorn...	OMIM:243605
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Bilateral cryptorchidism, Ankyloblepharon, Hypoplastic iliac wing, Pte...	OMIM:263650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Proximal Spinal Muscular Atrophy	Hip dislocation, Bradycardia, Dysphagia	ORPHA:70
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, 2-3 toe syndactyly, Microcornea, Microphthalmia, Pulmonary arterial hyperte...	OMIM:616449
Frontorhiny	Epicanthus, Cataract, Brachydactyly, Camptodactyly of finger, Finger clinodactyly, Microphthalmia...	ORPHA:391474
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Elevated 8-dehydrocholesterol,...	OMIM:302960
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me...	OMIM:300863
Retinoblastoma	Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,...	ORPHA:790
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Epicanthus, Cryptorchidism, Optic atrophy, Upslanted palpebral fissure, Hip dysplasia...	OMIM:616975
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i...	ORPHA:309246
Fanconi Anemia, Complementation Group C	Pancytopenia, Epicanthus, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchi...	OMIM:227645
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, Clinodactyly, 4-5 toe synda...	ORPHA:488642
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short ...	OMIM:600901
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia	ORPHA:3000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Ocular albinism, Aplasia ...	ORPHA:1352
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Epicanthus, Telecanthus, Abnormal hemoglobin, Cryptorchidism, Optic atrophy, Self-injurious behav...	ORPHA:847
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Miller Fisher Syndrome	Anisocoria, Ptosis, Dysphagia, Mydriasis	ORPHA:98919
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Hepatic stea...	ORPHA:1606
Trichothiodystrophy	Epicanthus, Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin conce...	ORPHA:33364
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b...	ORPHA:324
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic...	ORPHA:2470
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Mosaic Trisomy 1	Long toe, Hepatic agenesis, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campto...	ORPHA:1692
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip...	ORPHA:93357
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati...	ORPHA:171844
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Retina...	ORPHA:2510
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea, Abnormal repetitive m...	ORPHA:261552
Botulism	Arrhythmia, Dysphagia, Mydriasis	ORPHA:1267
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Short metacarpal, Long eyebrows, Optic atrophy, Long eyelashes, Broad thumb, S-shap...	OMIM:201180
47,Xyy Syndrome	Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin ...	ORPHA:8
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Long fingers, Microcornea, Upslanted palpebral fissure, Hypoplastic nipples, Blepharo...	OMIM:156610
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Optic nerve hypoplasia, Abnor...	ORPHA:141099
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Blep...	OMIM:608643
Feingold Syndrome	Hallux valgus, Toe syndactyly, Abnormality of the spleen, Deviation of the 2nd finger, Clinodacty...	ORPHA:1305
Legius Syndrome	Short attention span, Hyperactivity, Cataract, Dystonia, Acute monocytic leukemia, Paroxysmal atr...	ORPHA:137605
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:77298
Monosomy 9Q22.3	Epicanthus, Ovarian fibroma, Cataract, Hyperactivity, Abnormal rib morphology, Polydactyly, Retin...	ORPHA:77301
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cholangitis, Short metatarsal, Macular degeneration, Hepatic fibrosis, Clinodactyly of the 5th fi...	OMIM:266920
Oculodentodigital Dysplasia	Epicanthus, Cataract, Clinodactyly, 4-5 finger syndactyly, Hip dislocation, Uveitis, Microcornea,...	OMIM:164200
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Leukocoria, Co...	ORPHA:1556
Intestinal Botulism	Ptosis, Dysphagia, Mydriasis	ORPHA:178481
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Microphthalmia, Downslanted palpebral fissures, Broad thumb, Brachydactyly	OMIM:614526
Toxin-Mediated Infectious Botulism	Ptosis, Dysphagia, Mydriasis	ORPHA:230800
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Dystonia, Optic atrophy, Hypoplasia of the iris, Hypoalbuminemia, Opacifica...	OMIM:251300
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Dilated cardiomyopathy, Abnormal blood ion concentration, Abnormal...	ORPHA:79404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Elevated circulating creatine kinase concen...	OMIM:236670
Chromosome 13Q33-Q34 Deletion Syndrome	Epicanthus, Hyperactivity, Overlapping toe, Tapered finger, Aggressive behavior, Cryptorchidism, ...	OMIM:619148
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Atelosteogenesis Type I	Telecanthus, Short femur, Abnormal ossification involving the femoral head and neck, Abnormal fib...	ORPHA:1190
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Motor tics, Hyperactivity, Acanthocytosis, Tremor, Optic atrophy, Phonic tics, Dy...	OMIM:234200
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El...	OMIM:614643
Hallermann-Streiff Syndrome	Telecanthus, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Cryptorchidism, Small ha...	ORPHA:2108
Cockayne Syndrome B	Hepatomegaly, Tremor, Splenomegaly, Cryptorchidism, Optic atrophy, Ivory epiphyses of the phalang...	OMIM:133540
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology, Split hand, Hammertoe	ORPHA:90658
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Epicanthus, Optic neuropathy, Phthisis bulbi, Optic atrophy, Broad ischia,...	OMIM:619727
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Dysphagia, Aggressive behavior	ORPHA:289483
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension, Dysphagia, Ptosis	OMIM:615510
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Anisocoria, Hammertoe, Hip dysplasia, Abnormal optic nerve morphology, Head tremor	ORPHA:99949
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Chordee, Peters a...	OMIM:309801
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Agel Amyloidosis	Deficit in phonologic short-term memory, Cataract, Bilateral ptosis, Cardiomyopathy, Keratoconjun...	ORPHA:85448
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Progressive psychomotor dete...	OMIM:268800
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Anemia, Absent thumb	OMIM:617244
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Metaphyseal cu...	ORPHA:163966
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Mosaic Trisomy 9	Corneal opacity, Rocker bottom foot, Camptodactyly of finger, Asplenia, Cryptorchidism, Hip dislo...	ORPHA:99776
Premature Aging Syndrome, Penttinen Type	Short palm, Brachydactyly, Corneal opacity, Hypermyelinated retinal nerve fibers, Tibial bowing, ...	OMIM:601812
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Spatulate ribs, Hepatosplenomegaly, Cardiomyopathy, Flattened femor...	ORPHA:79255
Transketolase Deficiency	Hepatomegaly, Cataract, Uveitis, Secondary amenorrhea, Self-injurious behavior, Conjunctivitis, C...	ORPHA:488618
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Abnormal repetitive mannerisms, Oppositional defiant disord...	ORPHA:580
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma	OMIM:613456
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Marden-Walker Syndrome	Epicanthus, Arachnodactyly, Cryptorchidism, Radioulnar synostosis, Camptodactyly, Blepharophimosi...	OMIM:248700
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
Bohring-Opitz Syndrome	Syndactyly, Epicanthus, Overlapping toe, Supernumerary nipple, Tapered finger, Short toe, Upslant...	OMIM:605039
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Telecanthus, Cryptorchidism, Upslanted palpebral fissure, Hypogonadism, Microphthalmia	ORPHA:228390
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Ovarian fibroma, Cataract, Down-sloping shoulders, Orbital cys...	OMIM:109400
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Abnormality of retinal pigmentation, Posterior embryotoxon, Tricuspid regurgitation...	ORPHA:2556
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Arrhythmia, ...	OMIM:153400
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidism, Short thumb,...	OMIM:603467
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Polydactyly	OMIM:613885
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Aniridia-Absent Patella Syndrome	Cataract, Aplasia/Hypoplasia of the patella, Cryptorchidism, Aniridia, Ptosis	ORPHA:1069
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Overlapping toe, Optic atrophy, Hip dislocation, L...	OMIM:617301
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Lathosterolosis	Epicanthus, Cataract, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volume, Acant...	OMIM:607330
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, 3-4 finger cutaneous syndactyly...	OMIM:612530
Frontofacionasal Dysplasia	Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures...	OMIM:229400
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Missing ribs, Optic disc coloboma, Optic...	ORPHA:50
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Telecanthus, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Broad thumb, Cognitiv...	ORPHA:1236
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Small hand, Short foot, Hy...	OMIM:241410
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Orthostatic hypotension, Optic atrophy	OMIM:231550
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia, Pinea...	OMIM:180200
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Cr...	ORPHA:264450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration, Buphthalmos, Mic...	OMIM:616538
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Hypoplasia of the thymus, Hypocalcemia, Hypoparathyroidism, Arachnoda...	ORPHA:567
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Metrorrhagia, ...	ORPHA:464329
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Distichiasis, Sinus bradycardia	OMIM:126320
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterior pi...	OMIM:206900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Tapered finger, Coxa valga, Cryptorchidism, Abnormal repetitive mannerisms, Reduced a...	OMIM:301040
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Cognitive impairment, Microphthalmia, Ptosis	ORPHA:1915
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Microcornea, Hy...	OMIM:180500
Arachnoid Cyst	Mydriasis, Subarachnoid hemorrhage, Social and occupational deterioration, Disinhibition, Memory ...	ORPHA:2356
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Brachydactyly, Bowing of the long b...	ORPHA:3103
Nance-Horan Syndrome	Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Microphthalmia, ...	OMIM:302350
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Proximal placement o...	ORPHA:456312
Superficial Siderosis	Subarachnoid hemorrhage, Anisocoria, Dementia, Cognitive impairment, Memory impairment, Internal ...	ORPHA:247245
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Heart murmur	OMIM:606744
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ...	ORPHA:845
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment	ORPHA:276183
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral microphthalm...	OMIM:607597
Fryns Syndrome	Prominent fingertip pads, Ectopic pancreatic tissue, Rocker bottom foot, Proximal placement of th...	OMIM:229850
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Epicanthus, Exaggerated startle response, Telecanthus, Upslanted palpebral ...	ORPHA:438216
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Sclerocornea, Abnormal finger morphology, Aplasia of...	ORPHA:3472
Aicardi Syndrome	Retinal detachment, Cataract, Proximal placement of thumb, Missing ribs, Chorioretinal lacunae, O...	OMIM:304050
Ohdo Syndrome, X-Linked	Epicanthus, Overlapping toe, Sparse eyebrow, Cryptorchidism, Short thumb, Long thumb, Hip dysplas...	OMIM:300895
Myhre Syndrome	Cataract, Overlapping toe, Cryptorchidism, Clinodactyly, Short toe, 2-3 toe syndactyly, Cone-shap...	OMIM:139210
Cystinosis, Nephropathic	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Metaphyseal widening, Hypophosph...	OMIM:219800
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Microcornea, Laterally curved eyebrow, Contracture of...	OMIM:300166
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Dysphagia	OMIM:300858
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Stevenson-Carey Syndrome	Microphthalmia, Hip dysplasia, Downslanted palpebral fissures, Camptodactyly	OMIM:611961
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphtha...	OMIM:613001
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Leukopenia, Iron deficiency anemia, Hepatomegaly, Syndactyl...	OMIM:619488
Cat Eye Syndrome	Epicanthus, Absent radius, Biliary atresia, Pulmonic stenosis, Chorioretinal coloboma, Microphtha...	OMIM:115470
Steinfeld Syndrome	Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl...	OMIM:184705
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Thin ribs	OMIM:614833
Momo Syndrome	Epicanthus, Bilateral microphthalmos, Femoral bowing, Eyelid coloboma, Short sternum, Chorioretin...	ORPHA:2563
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Tongue thrusting	ORPHA:77299
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Mitral regurgitation, Exaggerated startle response, Hepatosplenome...	ORPHA:309155
Feingold Syndrome 1	Accessory spleen, Epicanthus, Tricuspid stenosis, Asplenia, Short thumb, Short toe, 4-5 toe synda...	OMIM:164280
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Portal hypertension, Pancrea...	OMIM:610199
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cryptorchidism, Heart murmur, Blepharophimosis, Microphthalmia, Ptosis	ORPHA:2728
Mowat-Wilson Syndrome	Cataract, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia pupillae, Pulmonic stenosis,...	OMIM:235730
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Astigmatism	OMIM:619769
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Tapered finger, Cryptorchidism, Synophrys, Long fingers, 2-3 toe syndactyly, Microcor...	OMIM:616734
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Laryngea...	ORPHA:2388
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot pol...	OMIM:601707
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Epicanthus, Exaggerated startle response, Tremor, Truncal titubation, Agitation, Clinodactyly of ...	OMIM:618056
Trichothiodystrophy 1, Photosensitive	Cataract, Telangiectasia, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia	OMIM:601675
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Epicanthus, Absent nipple, Aplasia of the thymus, Broad hallux, Sparse eyebrow, Clinodactyly, Opt...	OMIM:620186
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Short tibia, Squared iliac bones, Preaxial...	OMIM:616300
Xeroderma Pigmentosum, Complementation Group B	Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia	OMIM:610651
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Bradycardia, Ectopic thyroid, Hyperbilirubinemia, Thyr...	OMIM:218700
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Retinal dystrophy, Preaxial hand polydactyly, Posta...	OMIM:263520
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Epicanthus, Cataract, Finger syndactyly, Brachydactyly, Clinodac...	ORPHA:1587
Mend Syndrome	Hyperactivity, Cataract, Broad hallux, Overlapping toe, Cryptorchidism, Long fingers, 2-3 toe syn...	OMIM:300960
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Bilateral cryptorchidism, Sparse eyebrow, Upslanted palpebral fiss...	OMIM:613451
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Upslanted palpebral fissure, Attention deficit hyperactivity disorde...	OMIM:614083
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of...	ORPHA:364577
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Synophrys, Clinodactyly of the 5th finger, Prominent fingertip pads, Abnormal repetitive ...	OMIM:612474
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Cryptorchidism, Exaggerated startle response, Cataract	OMIM:620327
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Han...	OMIM:214800
Charge Syndrome	Epicanthus, Anophthalmia, Hypogonadotropic hypogonadism, Brachydactyly, Highly arched eyebrow, Cr...	ORPHA:138
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Macroorchidism, Iris coloboma, Adduc...	OMIM:618874
Galloway-Mowat Syndrome 3	Epicanthus, Arachnodactyly, Hip dislocation, Hypertension, Hypoalbuminemia, Camptodactyly, Microp...	OMIM:617729
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Narrow palpebral fissure, Bradycardia, Pulmonary insufficiency, Downslanted palpe...	OMIM:614437
Inhalational Botulism	Ptosis, Mydriasis	ORPHA:254504
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Optic atrophy, Long eyelashes, Thick eyebrow	OMIM:617281
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Hyperactivity, Cryptorchidism, Synophrys, Long fingers, Polysplenia, Attention...	OMIM:614294
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal circulating phytanic acid concentration, Mydriasis	ORPHA:247815
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho...	OMIM:615503
Microcephaly-Micromelia Syndrome	Absent thumb, Absent radius, Missing ribs, Short tibia, Humeroradial synostosis, Forearm undergro...	OMIM:251230
Combined Oxidative Phosphorylation Deficiency 39	Dystonia, Sinus bradycardia	OMIM:618397
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Epicanthus, Pancreatic fibrosis, Postaxial hand polydactyly, Upslanted palpebral fi...	OMIM:200995
Bickerstaff Brainstem Encephalitis	Anisocoria, Ptosis, Confusion, Mydriasis	ORPHA:79138
Meckel Syndrome, Type 1	Accessory spleen, Syndactyly, Bowing of the long bones, Camptodactyly of finger, Malformation of ...	OMIM:249000
Teebi-Shaltout Syndrome	Syndactyly, Telecanthus, Rocker bottom foot, Highly arched eyebrow, Metatarsus adductus, Camptoda...	OMIM:272950
Treacher-Collins Syndrome	Thyroid hypoplasia, Cataract, Absent eyelashes, Cryptorchidism, Blepharospasm, Eyelid coloboma, H...	ORPHA:861
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Distal Deletion 12Q	Telecanthus, Hyperactivity, Unilateral cryptorchidism, Broad hallux, Overlapping toe, Pituitary a...	ORPHA:96149
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder	OMIM:617914
Focal Dermal Hypoplasia	Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyl...	OMIM:305600
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis	OMIM:613834
Tay-Sachs Disease	Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia	OMIM:272800
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Acute lymphoblastic leukemia, Clinod...	ORPHA:1052
Hydrolethalus	Microphthalmia, Cryptorchidism, Postaxial hand polydactyly, Anophthalmia	ORPHA:2189
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu...	OMIM:171300
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ...	ORPHA:449432
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Epican...	OMIM:251260
Meckel Syndrome, Type 5	Bowing of the long bones, Postaxial hand polydactyly, Postaxial foot polydactyly, Bile duct proli...	OMIM:611561
Facial Spasm	Anisocoria	OMIM:134300
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm	OMIM:613807
Monosomy 9P	Epicanthus, Highly arched eyebrow, Proximal placement of thumb, Abnormality of the tarsal bones, ...	ORPHA:261112
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Male infertility	OMIM:618948
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic hepatitis, Keratoconjunctivitis, Iron de...	OMIM:269200
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Retinal calcificatio...	OMIM:259770
Pallister-Hall Syndrome	Thyroid dysgenesis, Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Decreased response to...	OMIM:146510
Mycophenolate Mofetil Embryopathy	Eyelid coloboma, Foot polydactyly, Chorioretinal coloboma, Short palm, Microphthalmia, Iris coloboma	ORPHA:268249
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Overlapping toe, Supernumerary nipple, Cryptorchidism, Hip dislocation, Clinodactyly ...	OMIM:613884
Vascular Ehlers-Danlos Syndrome	Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Telangiectasia of the skin, Transient ischem...	ORPHA:286
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level	OMIM:250790
Plague	Hepatomegaly, Tachycardia, Mydriasis, Anorexia, Hematemesis, Splenomegaly, Hypotension, Arrhythmi...	ORPHA:707
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Cataract, Sparse eyelashes, Brachydactyly, Camptodactyly of finger, Sparse eyebrow, F...	ORPHA:306542
Beckwith-Wiedemann Syndrome	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Cryptorchidism,...	ORPHA:116
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of ...	ORPHA:2538
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Alveolar Echinococcosis	Liver abscess, Abnormal pelvis bone morphology, Eosinophilia, Portal hypertension, Cholangitis, H...	ORPHA:284
Meckel Syndrome, Type 2	Bowing of the long bones, Postaxial hand polydactyly, Bile duct proliferation, Polydactyly, Micro...	OMIM:603194
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Long fingers, Optic atro...	OMIM:617527
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, Upslanted palpe...	OMIM:264480
Blau Syndrome	Pericarditis, Cataract, Camptodactyly of finger, Abnormal retinal vascular morphology, Splenomega...	ORPHA:90340
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Long f...	ORPHA:521426
Vacterl With Hydrocephalus	Anophthalmia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microcornea, Abnormal op...	ORPHA:3412
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial polydactyly, Postaxial h...	OMIM:619879
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit...	ORPHA:2239
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Retinal dystrophy, Macular atrophy, Pancreatic cysts, Polydact...	OMIM:616307
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Rod-cone dystrophy, Abnorm...	ORPHA:244
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy	OMIM:609541
Joubert Syndrome 2	Retinal dystrophy, Postaxial hand polydactyly, Optic disc coloboma, Postaxial foot polydactyly, C...	OMIM:608091
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan...	OMIM:615710
Goodpasture Syndrome	Pulmonary hemorrhage, Anemia, Increased blood urea nitrogen	OMIM:233450
Hyperekplexia 2	Exaggerated startle response, Astigmatism	OMIM:614619
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Finger clinodactyly, Tics, Clinodactyly ...	ORPHA:508488
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy	ORPHA:320406
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cataract, Cryptorchidism, Hypogonadism, Microphthalmia, Iris coloboma	ORPHA:2250
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Orofaciodigital Syndrome Type 1	Finger syndactyly, Epicanthus, Telecanthus, Brachydactyly, Tarsal synostosis, Pancreatic cysts, A...	ORPHA:2750
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Meckel Syndrome, Type 4	Microphthalmia, Bowing of the long bones, Bile duct proliferation, Postaxial hand polydactyly	OMIM:611134
Hyperekplexia 3	Exaggerated startle response, Syncope	OMIM:614618
Oculotrichoanal Syndrome	Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos	ORPHA:2717
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnorm...	ORPHA:3186
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Decreased serum iron, Almond-shaped palpebral fi...	ORPHA:438213
Spondyloepimetaphyseal Dysplasia, Krakow Type	2-3 toe syndactyly, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly of the 5th...	OMIM:618162
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb...	OMIM:616263
Fryns Syndrome	Corneal opacity, Cryptorchidism, Clinodactyly of the 5th finger, Microphthalmia, Short distal pha...	ORPHA:2059
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of...	OMIM:608670
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Heart And Brain Malformation Syndrome	Microphthalmia, Camptodactyly of finger	OMIM:616920
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Pheochromocytoma, Hepatic hemangioma, R...	OMIM:193300
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Linear Nevus Sebaceus Syndrome	Microphthalmia, Telecanthus, Adenoma sebaceum, Iris coloboma	ORPHA:2612
Schinzel-Giedion Syndrome	Streak ovary, Overlapping toe, Overlapping fingers, Annular pancreas, Hypoplastic pubic bone, Dys...	ORPHA:798
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Short attention span, Impulsivity, Corneal scarring, Anemia, Aplasia ...	ORPHA:642
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Asplenia, Annular pancreas, Pulmonary arterial hypertension, Aortic valve ste...	ORPHA:210122
Townes-Brocks Syndrome	Broad hallux phalanx, Toe clinodactyly, Cataract, Toe syndactyly, Blepharophimosis, Cryptorchidis...	ORPHA:857
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Overlapping fingers, Pancreatic hypoplasia, Anemia, Pancreatic aplasia	OMIM:609069
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Short tibia, Preaxial polydactyly, Hypoplastic pubic b...	OMIM:617925
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Synophrys, Lacrimal duct atresia, Primar...	OMIM:603457
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Male infertility, Tachycardia, Streak ovary, Unilateral cryptorchidism, Ep...	ORPHA:1772
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre...	ORPHA:90793
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, 2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, Crypto...	ORPHA:468631
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature...	ORPHA:125
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos	OMIM:248450
Spermatogenic Failure 14	Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ...	OMIM:615842
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Microphthalmia, Syndromic 9	Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Pulmonic stenosis,...	OMIM:601186
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Eyelid coloboma, Shallow orbits, Phocomelia, Accessory spleen, Syndactyly, Hypop...	OMIM:268300
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Optic atrophy	OMIM:616881
Pallister-Hall Syndrome	Gonadotropin deficiency, Panhypopituitarism, Paroxysmal bursts of laughter, Mesoaxial polydactyly...	ORPHA:672
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Ciliary Dyskinesia, Primary, 1	Asplenia, Abnormal cornea morphology, Male infertility	OMIM:244400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Astigmatism, Dysphagia, Sinus bradycardia	OMIM:619482
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas	ORPHA:1203
Renpenning Syndrome 1	Epicanthus, Cataract, Telecanthus, Upslanted palpebral fissure, Synostosis of the proximal phalan...	OMIM:309500
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Overlapping toe	OMIM:618598
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Epicanthus, Telecanthus, Exaggerated startle response, Tapered finger, Cryptorchidism,...	OMIM:619522
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Retinal dystrophy, Female hypogonadism, Scler...	OMIM:607932
Neu-Laxova Syndrome 1	Ablepharon, Finger syndactyly, Cataract, Toe syndactyly, Rocker bottom foot, Absent eyelashes, Cr...	OMIM:256520
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Telecanthus, Short metacarpal, Bifid sternum, Highly arc...	OMIM:303600
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia, Hypoasparaginemia	OMIM:615574
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Calcaneovalgus deformity, Abnormal repetitive mannerisms, Long hallux, Iris coloboma, L...	ORPHA:261537
Branchiooculofacial Syndrome	Telecanthus, Cataract, Anophthalmia, Supernumerary nipple, Proximal placement of thumb, Cryptorch...	OMIM:113620
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Down-sloping shoulders, Aggressive behavior, Cryptorchidism, Clinodacty...	OMIM:309800
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Elevated pulmonary artery pressure, Peritonitis, Mydriasis	OMIM:619351
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus, Cryptophthalmos, Cutaneous syndactyly	OMIM:617666
Tetraamelia Syndrome 1	Cataract, Asplenia, Hypoplastic pelvis, Microphthalmia, Adrenal gland agenesis	OMIM:273395
Mowat-Wilson Syndrome	Asplenia, Calcaneovalgus deformity, Abnormal repetitive mannerisms, Iris coloboma, Long toe, Synd...	ORPHA:2152
Hyperekplexia 1	Exaggerated startle response, Hip dislocation	OMIM:149400
Holoprosencephaly 7	Synophrys, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow orbits, Microphthalmia,...	OMIM:610828
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Fraser Syndrome 1	Absent eyebrow, Aplasia/Hypoplasia of the thumb, Anophthalmia, Corneal opacity, Absent eyelashes,...	OMIM:219000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Epiblepharon, Dysphagia...	OMIM:618367
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Fontaine Progeroid Syndrome	Syndactyly, Tricuspid regurgitation, Absent nipple, Cryptorchidism, Synophrys, Absent distal phal...	OMIM:612289
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnorm...	ORPHA:93111
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Epicanthus,...	OMIM:163950
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Right-to-left shunt, Posterior rib fusion, Pulmonary arterial hypertension, Annular pan...	OMIM:265380
Pancreatitis, Hereditary	Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency	OMIM:167800
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Bilateral microphthalmos, Upper e...	OMIM:154500
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Cryptorchidism, Postaxial hand polydactyly, Thyroid hypoplasia	ORPHA:2166
Adams-Oliver Syndrome 1	Toe syndactyly, Supernumerary nipple, Hypertension, Pulmonic stenosis, Microphthalmia, Pulmonary ...	OMIM:100300
Fraser Syndrome	Finger syndactyly, Anophthalmia, Toe syndactyly, Cryptorchidism, Lacrimal duct aplasia, Malformed...	ORPHA:2052
Cystic Fibrosis	Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Clubbing of fingers, Cirrh...	OMIM:219700
Partial Androgen Insensitivity Syndrome	Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Prima...	ORPHA:90797
Craniorachischisis	Bifid sternum	ORPHA:63260
Isolated Arrhinia	Microphthalmia, Eyelid coloboma	ORPHA:1134
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx o...	OMIM:236680
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ...	ORPHA:251510
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Iris coloboma, A...	OMIM:157170
Craniofacial Microsomia 1	Anophthalmia, Blepharophimosis, Partial duplication of thumb phalanx, Upper eyelid coloboma, Genu...	OMIM:164210
Holoprosencephaly 1	Microphthalmia	OMIM:236100

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Testis - MPATH pathological entity term stasis	Ubl7^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term apoptosis	Ubl7^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological process term hypoplasia	Ubl7^em1(IMPC)Tcp	HOM	Early adult
Lung - MPATH pathological process term pneumonia	Ubl7^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological entity term cytoskeletal defect	Ubl7^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term developmental dysplasia	Ubl7^em1(IMPC)Tcp	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ubl7.

No publications found that use IMPC mice or data for Ubl7.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ubl7^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ubl7^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ubl7^em1(IMPC)Tcp	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Ubl7 MGI:1916709

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

X-ray

Eye Morphology

Histopathology

X-ray

X-ray

Gross Pathology and Tissue Collection

Human diseases caused by Ubl7 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data