| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Hyperglycemia, ... |
OMIM:520000 |
| X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia |
OMIM:618970 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
| Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Morm Syndrome |
|
Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior |
ORPHA:75858 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia, Polydipsia, Rod-co... |
OMIM:615986 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Loss of am... |
OMIM:204200 |
| Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cataract, Retinal dystrophy |
OMIM:615995 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Cataract, Optic atrophy |
OMIM:620312 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Ataxia, Tremor, Depression, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor |
OMIM:614307 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Ataxia, Optic atrophy, Depression, Dysphagia |
ORPHA:329314 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, E... |
OMIM:204000 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Ataxia, Type II diabetes mellitus, Macular dystrophy... |
ORPHA:225 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Pallor |
ORPHA:49827 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Evans Syndrome |
|
Epistaxis, Syncope, Pallor, Petechiae |
ORPHA:1959 |
| Developmental And Epileptic Encephalopathy 35 |
|
Irritability, Cataract, Limb tremor, Cardiomyopathy |
OMIM:616647 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
| Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depression, Bradyki... |
ORPHA:228346 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... |
ORPHA:99886 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, Macular degeneration, Progr... |
ORPHA:284289 |
| Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
| Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Ataxia |
ORPHA:3156 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
| Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Optic atrophy, Dysmetria, Rod-cone dystrophy, Subcapsular cataract, Intention t... |
OMIM:612674 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... |
OMIM:224050 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis, Pallor |
ORPHA:163596 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... |
ORPHA:94080 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... |
OMIM:152950 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| 4H Leukodystrophy |
|
Cataract, Ataxia, Tremor, Optic atrophy, Dysphagia, Dysmetria, Progressive gait ataxia, Dysdiadoc... |
ORPHA:289494 |
| Wolfram Syndrome 1 |
|
Cataract, Ataxia, Diabetes mellitus, Tremor, Optic atrophy, Pigmentary retinopathy, Cardiomyopath... |
OMIM:222300 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
| Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Limb tremor, Dysmetria, Gait a... |
OMIM:614877 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Ventricular septal ... |
ORPHA:290 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Ataxia, Tremor, Depression, Pigmentary retinopathy, Type II diabetes mellitus |
ORPHA:79095 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Tachycardia, Syncope, Pallor |
ORPHA:324575 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... |
OMIM:261600 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Hypoglycemia, Cardiomegaly, Optic atrophy, Choreoathetosis, Dysphagia, Lo... |
ORPHA:391428 |
| Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability |
ORPHA:3198 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Cataract, Impaired glucose tolerance, Cardiomyopathy, Glucose in... |
OMIM:606069 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia |
OMIM:222100 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, Hypoglycemia, Iris hypopigmentation |
ORPHA:67048 |
| Refsum Disease, Classic |
|
Cataract, Ataxia, Cardiomegaly, Cardiomyopathy, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Dilated cardiomyopathy, Optic atrophy, Gait disturbance, Retinal dysplasia |
ORPHA:272 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Usher Syndrome Type 3 |
|
Cataract, Ataxia, Depression, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
OMIM:601794 |
| Classic Galactosemia |
|
Hepatomegaly, Cataract, Postural tremor, Ataxia, Hypoglycemia, Depression, Gait disturbance, Gait... |
ORPHA:79239 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
| Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism |
ORPHA:250984 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
ORPHA:363741 |
| Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Mitral valve prolapse |
ORPHA:90653 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract, Dysmetria, Dysphagia |
OMIM:619780 |
| Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Ab... |
ORPHA:93399 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tremor, Retrobulbar optic neuritis, Hyperglycemia, Optic disc pallor |
OMIM:619737 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
| American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance, Hand tremor |
OMIM:604484 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Cataract, Ataxia, Broad-based gait, Optic atrophy, Pigme... |
OMIM:609033 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
| Intermediate Uveitis |
|
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... |
ORPHA:279914 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
| Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia |
ORPHA:3099 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Dystonia, Hypertrophic cardiomyo... |
OMIM:614702 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Irritability, Glycosuria, Postprandial hyperglycemia, Lethargy |
ORPHA:2089 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Glucose intolerance, D... |
ORPHA:552 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Ataxia, Dilated cardiomyopathy, Optic atrophy, Dystonia, Lethargy, Hypert... |
ORPHA:254913 |
| Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Ataxia, Optic atrophy, Cardiomyopathy, Rod-cone dystrophy |
ORPHA:772 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract, Ventricular septal defect, Hepatomegaly |
OMIM:613730 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Short stature, Pallor |
ORPHA:98870 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Hyperinsulinemia, Dysmetria, Developmental cataract, Sup... |
OMIM:620185 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Glycosuria, ... |
OMIM:268315 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Ataxia, Truncal titubation, Gait ataxia, Pigme... |
ORPHA:88628 |
| Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Cataract, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagi... |
OMIM:607371 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... |
ORPHA:309246 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Cataract, Dilated cardiomyopathy, Optic atrophy... |
OMIM:253800 |
| Transketolase Deficiency |
|
Hepatomegaly, Cataract, Ventricular septal defect, Patent foramen ovale, Abnormal heart morpholog... |
ORPHA:488618 |
| Primary Myelofibrosis |
|
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
| Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... |
ORPHA:276621 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking |
ORPHA:320406 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Ataxia, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Card... |
OMIM:620089 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetri... |
ORPHA:93400 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Pallor |
ORPHA:3226 |
| Nance-Horan Syndrome |
|
Microcornea, Retinal detachment, Cataract |
ORPHA:627 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
| Peroxisome Biogenesis Disorder 9B |
|
Rod-cone dystrophy, Cataract, Ataxia, Cardiomyopathy |
OMIM:614879 |
| Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Cataract, Corneal opacity, Ataxia, Hepatosplenomegaly, Depression |
ORPHA:309288 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Hematochezia |
ORPHA:329971 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Pallor |
OMIM:609053 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, Cardiom... |
OMIM:619259 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Pallor |
ORPHA:75564 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Short Syndrome |
|
Rieger anomaly, Cataract, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intole... |
OMIM:269880 |
| Usher Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ataxia, Vestibular areflexia, Depression, Astigmat... |
ORPHA:886 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Depr... |
ORPHA:845 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Ataxia, Diabetes mellitus, ... |
OMIM:209900 |
| Hereditary Spherocytosis |
|
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... |
ORPHA:29072 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression |
OMIM:184850 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Irritability, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
| Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... |
ORPHA:231226 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Depression, Macular edema, Irrita... |
ORPHA:247691 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Abnormal heart morphology |
OMIM:175700 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Pallor, Skin ulcer, Pulmonary arterial hypertension |
ORPHA:231222 |
| Microphthalmia, Syndromic 5 |
|
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma |
OMIM:610125 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Cataract, Tremor, Atrial septal defect, Patent foramen ovale |
OMIM:620327 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension, Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Hepatosplenomegaly, Cherry red ... |
OMIM:268800 |
| Werner Syndrome |
|
Diabetes mellitus, Cataract, Retinal degeneration |
OMIM:277700 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive ... |
OMIM:612469 |
| Refractory Anemia With Excess Blasts |
|
Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Cardiomyopathy, Lethargy, Hyperglycemia |
ORPHA:465508 |
| Beta-Thalassemia Major |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... |
ORPHA:231214 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Ataxia, Optic atrophy, Depression, Head tremor |
ORPHA:314404 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... |
ORPHA:67036 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
| Beta-Ketothiolase Deficiency |
|
Hypertension, Pallor, Hypotension |
ORPHA:134 |
| Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response, Mitral valve prolapse, Hepatosplenom... |
ORPHA:309155 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Necrotizing Enterocolitis |
|
Lethargy, Hyperglycemia, Abnormal glucose homeostasis, Abnormal heart morphology |
ORPHA:391673 |
| Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Pallor |
ORPHA:35858 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cataract, Ataxia, Hypoglycemia, Depression, Recurrent hypoglycemia, Hyperglycemia, Emotional labi... |
OMIM:124000 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Impaired glucose tolerance, Insulin resistance, Fast... |
ORPHA:769 |
| Knobloch Syndrome |
|
Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Abnormal vitreous humor morphology, M... |
ORPHA:1571 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Pallor, Hypotension |
ORPHA:98849 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Pallor, Bradycardia, Dry skin |
ORPHA:91355 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor, Hypotension, Cardiac arrest |
ORPHA:20 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Dystonia, Ataxia, Hypoglycemia, Anorexia, Tremor, Tip-toe gait, Abnormal temper tan... |
ORPHA:3008 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia |
OMIM:246200 |
| Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Secundum atrial septal defect, Hyperglyc... |
OMIM:609069 |
| Prolactinoma |
|
Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
| Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
| Incontinentia Pigmenti |
|
Retinal hemorrhage, Erythema, Short stature, Pallor |
OMIM:308300 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Depression |
OMIM:615954 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Dysphagia |
OMIM:617301 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hyperglycemia, Addictive alcohol use |
ORPHA:90065 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Ataxia, Abnormal heart morphology, Glycosuria, Hype... |
ORPHA:99885 |
| Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Optic atrophy, Exaggerated startle response |
OMIM:617281 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Pallor, Hypotension, Delayed... |
ORPHA:91347 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Po... |
ORPHA:2088 |
| Diamond-Blackfan Anemia 1 |
|
Short stature, Tricuspid stenosis, Congestive heart failure, Pallor, Intrauterine growth retardat... |
OMIM:105650 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Ventricular septal defect, Dextrocar... |
OMIM:300166 |
| Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Anemic pallor, Short stature |
OMIM:227645 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Retinal... |
ORPHA:42775 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
| Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:615574 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia |
ORPHA:438216 |
| Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Aortic valve calcification, Insulin-resis... |
ORPHA:79474 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
| Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy, Dysphagia |
OMIM:617527 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Coronary artery stenosis, Type II diabetes mellitus |
OMIM:615812 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Dystonia, Cherry red spot of th... |
ORPHA:79255 |
| Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Ventricular septal defect, Coronary sinus enlargement, Astigmatism, ... |
OMIM:619268 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, Patent foramen ovale,... |
OMIM:600001 |
| Multiple Endocrine Neoplasia Type 2 |
|
Palpitations, Pallor, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature |
OMIM:600901 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Pulmonary arterial hypertension, Pallor |
ORPHA:667 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
OMIM:248370 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Pallor, Hypertensive crisis |
ORPHA:544482 |
| Degcags Syndrome |
|
Tachycardia, Pulmonary arterial hypertension, Pallor, Pulmonic stenosis, Intrauterine growth reta... |
OMIM:619488 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature |
OMIM:227650 |
| Scorpion Envenomation |
|
Restlessness, Ataxia, Tremor, Myocarditis, Glycosuria, Hyperglycemia, Mydriasis |
ORPHA:466677 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cataract, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressiv... |
ORPHA:353281 |
| Esophageal Atresia |
|
Growth delay, Pallor |
ORPHA:1199 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, H... |
OMIM:151660 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Ataxia, Hypoglycemia, Tremor, Aortic valve atresia, Trunca... |
OMIM:220111 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ... |
OMIM:157170 |
| Diamond-Blackfan Anemia |
|
Growth delay, Short stature, Pallor |
ORPHA:124 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Broad-based gait, Bicuspid aortic valve, Ventric... |
ORPHA:438213 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature |
OMIM:227646 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatomegaly, Fasting hypoglycemia, Glycosuria |
OMIM:227810 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cataract, Ventricular septal defect, Abnormal heart morphology, Hyperglycemia, Patent foramen ovale |
ORPHA:444077 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Cataract |
OMIM:617822 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors, Hyperglycemia, Em... |
ORPHA:293987 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia |
ORPHA:440713 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Recurrent infantile hypogly... |
ORPHA:508 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Thyrotoxic Periodic Paralysis |
|
Tremor, Postprandial hyperglycemia |
ORPHA:79102 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Ventricular septal defect, Attention deficit hyperactivity disorder... |
OMIM:619522 |
