Kaposi Sarcoma, Susceptibility To |
|
Edema, Hypermelanotic macule |
OMIM:148000 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Spastic Paraparesis And Deafness |
|
Cataract, Tremor |
OMIM:312910 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of the skin, Pallor |
ORPHA:2786 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Retinitis Pigmentosa 27 |
|
Macular edema, Pallor |
OMIM:613750 |
Mastocytosis, Cutaneous |
|
Edema, Hypermelanotic macule, Erythema |
OMIM:154800 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Tremor |
OMIM:165300 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Edema of the dorsum of hands, Edema of the dorsum of feet, Palmoplantar ... |
ORPHA:281127 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin, Pallor |
ORPHA:75563 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor |
OMIM:613561 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Cerebral edema, Pallor |
ORPHA:439218 |
Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema |
OMIM:618773 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor |
OMIM:266200 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Cafe-au-lait spot, Pallor |
OMIM:615234 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
American Trypanosomiasis |
|
Edema, Pallor, Periorbital edema |
ORPHA:3386 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
OMIM:617300 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Evans Syndrome |
|
Petechiae, Pallor |
ORPHA:1959 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema |
ORPHA:3226 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Beta-Thalassemia |
|
Skin ulcer, Pallor |
ORPHA:848 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Leishmaniasis |
|
Skin ulcer, Pallor |
ORPHA:507 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Fanconi Anemia, Complementation Group I |
|
Cafe-au-lait spot, Intrauterine growth retardation, Pallor |
OMIM:609053 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Hyperekplexia 2 |
|
Astigmatism, Exaggerated startle response |
OMIM:614619 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Edema |
ORPHA:329971 |
Primary Myelofibrosis |
|
Ecchymosis, Purpura, Petechiae, Pallor |
ORPHA:824 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:98375 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... |
OMIM:265300 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Beta-Ketothiolase Deficiency |
|
Edema, Pallor, Dehydration |
ORPHA:134 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Waldenström Macroglobulinemia |
|
Pedal edema, Purpura, Pallor, Pleural effusion, Periorbital edema |
ORPHA:33226 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... |
OMIM:602450 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Cafe-au-lait spot, Pallor |
ORPHA:300298 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Lens subluxation, Cataract, Microphakia |
ORPHA:171844 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Sepsis In Premature Infants |
|
Edema, Purpura, Petechiae, Pallor |
ORPHA:90051 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
Cataract 15, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Pallor, Dehydration |
ORPHA:20 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma |
OMIM:216820 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Dominant Beta-Thalassemia |
|
Hyperpigmentation of the skin, Skin ulcer, Pallor |
ORPHA:231226 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Tremor, Splenomegaly |
OMIM:613179 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Pallor |
ORPHA:231222 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Beta-Thalassemia Major |
|
Hyperpigmentation of the skin, Skin ulcer, Pallor |
ORPHA:231214 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Hereditary Spherocytosis |
|
Skin ulcer, Pallor |
ORPHA:822 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
Pearson Marrow-Pancreas Syndrome |
|
Pallor, Hydrops fetalis, Erythema, Dehydration |
OMIM:557000 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Erythema, Pallor |
OMIM:308300 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Hyperpigmentation of the skin, Cafe-au-lait spot, Intrauterine growth retardation |
OMIM:227645 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Hyperpigmentation of the skin, Cafe-au-lait spot |
OMIM:600901 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... |
OMIM:221900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Abnormality of skin pigmentation, Cafe-au-lait spot |
OMIM:227650 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Pallor, Pleural empyema, Generalized edema |
ORPHA:544482 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Idiopathic Hypereosinophilic Syndrome |
|
Pleural effusion, Angioedema, Joint swelling, Pallor |
ORPHA:3260 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Pallor |
ORPHA:137675 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Postural tremor, Resting tremor, Cerulean cataract, Anterior subcapsular cataract, Posterior subc... |
ORPHA:67036 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Degcags Syndrome |
|
Polyhydramnios, Hypopigmentation of the skin, Abnormality of skin pigmentation, Pallor, Intrauter... |
OMIM:619488 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Esophageal Atresia |
|
Polyhydramnios, Pallor |
ORPHA:1199 |
Sandhoff Disease |
|
Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Abnormality of skin pigmentation, Cafe-au-lait spot |
OMIM:227646 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Exaggerated startle response |
OMIM:253800 |
Tay-Sachs Disease |
|
Exaggerated startle response, Hepatosplenomegaly, Tremor, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Diamond-Blackfan Anemia 1 |
|
Intrauterine growth retardation, Pallor |
OMIM:105650 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
Von Hippel-Lindau Disease |
|
Macular edema, Pallor |
ORPHA:892 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Blackfan-Diamond Anemia |
|
Nonimmune hydrops fetalis, Pallor |
ORPHA:124 |
Agammaglobulinemia, X-Linked |
|
Conjunctivitis, Lymph node hypoplasia |
OMIM:300755 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor |
ORPHA:667 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |