Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Shyness, Attention deficit hyperactivity disorder, Gait ataxia |
OMIM:618221 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Psychomotor deterioration, Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod... |
OMIM:609055 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Dystonia, Ataxia, Elevated circulating creatine kinase concentrat... |
OMIM:208920 |
Craniosynostosis 3 |
|
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... |
OMIM:615314 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Short stature, Aggressive behavior, Prominent nose, Dental malocclusion, Abnormal ... |
OMIM:615541 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotyp... |
OMIM:309548 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotyp... |
ORPHA:100973 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Short stature, Micrognathia, Carious teeth, Prominent nose, Talon cusp, Dental mal... |
OMIM:613684 |
Mulibrey Nanism |
|
Wide nose, Short stature, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Thicke... |
OMIM:253250 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Large fontanelles, Gingival fibromatosis, Gingival overgrowth, De... |
ORPHA:1832 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance |
ORPHA:2572 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of D-threitol in plasma, Optic atrophy, Ataxia, Elevated circulating ribitol conc... |
OMIM:608611 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Alg6-Cdg |
|
Failure to thrive, Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Rod-cone dys... |
ORPHA:79320 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Short stature, Camptodactyly of finger, Anteverted nares, Depressed nasal ... |
ORPHA:1327 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Spastic Ataxia 7, Autosomal Dominant |
|
Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short attention span, Motor neuron atrophy, Frontotemporal dementia, Bradykinesia, Dementia, Fall... |
ORPHA:412066 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Short stature, Underdeveloped nasal alae, Dental malocclusion, Widely spaced teeth, Malar flattening |
OMIM:616108 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Impulsivity, Tremor, Optic atrophy, Oromandibular dystonia, Depression, Focal dyst... |
ORPHA:216873 |
Mcdonough Syndrome |
|
Mandibular prognathia, Short stature, Micrognathia, Open bite, Prominent nose, Underdeveloped nas... |
ORPHA:2471 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Short stature, Dental crowding, Micrognathia, Oral-pharynge... |
OMIM:610883 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Anteverted nares, Dental malocclusion, High palate, Mild short stature |
OMIM:618292 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Ataxia, Optic atrophy, Depression, Dementia, Cognitive impairment, Dysphagia, Sensory a... |
ORPHA:329314 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Decreased nerve... |
ORPHA:101082 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Dental malocclusion, High palate, Dysphagia, Arthrogryposis multiplex cong... |
OMIM:608931 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder |
OMIM:301033 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance |
OMIM:616859 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Seckel Syndrome 1 |
|
Hyperactivity, Dental crowding, Selective tooth agenesis, Proportionate short stature, Micrognath... |
OMIM:210600 |
Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts... |
ORPHA:182050 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal soci... |
ORPHA:391417 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose |
OMIM:155050 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Cataract, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Psychomotor deterioration, Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration,... |
OMIM:204200 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-... |
ORPHA:64753 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocy... |
OMIM:209950 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Mucolipidosis Iv |
|
Corneal opacity, Progressive neurologic deterioration, Optic atrophy, Opacification of the cornea... |
OMIM:252650 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Mental deterioration, Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614706 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... |
OMIM:144750 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive... |
OMIM:616267 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy, Depression |
OMIM:614296 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Psychomotor deterioration, Ataxia, Vacuolated lymphocytes, Optic atrophy, Depression, Macular deg... |
OMIM:256730 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... |
OMIM:152950 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation, Conve... |
OMIM:600252 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Short stature, Camptodactyly of finger, Depr... |
OMIM:612350 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Broad nasal tip, Achilles tendon contractur... |
OMIM:619719 |
Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Short stature, Abnormality of the dentition |
ORPHA:1858 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo... |
ORPHA:507 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Memory impairment, Unsteady gait, Cataract, Optic atrophy |
OMIM:620312 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, High palate, Short philtrum,... |
ORPHA:251028 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Dental maloc... |
ORPHA:61 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:616050 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Aggressive behavior, Dental malocclusion, Wide na... |
OMIM:619149 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Thin upper lip vermilion, Wide nose, Exaggerated cupid's bow, Anteverted nares, Nar... |
OMIM:619293 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... |
OMIM:602483 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Short stature, Micrognathia, Diastema, Underdeveloped nasal alae, Dental malocclusion, Malar flat... |
ORPHA:436245 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, High, narrow palate, Dental malocclusion |
OMIM:619692 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Prominent nasal tip, Severe short stature, Short stature, Anteverted n... |
OMIM:612921 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Self hugging, Increased body weight, Hea... |
OMIM:182290 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
OMIM:603553 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Short stature, Micrognathia, Hy... |
OMIM:257850 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Large for gestational age |
ORPHA:2432 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Muenke Syndrome |
|
Capitate-hamate fusion, Dental malocclusion, High palate, Attention deficit hyperactivity disorde... |
OMIM:602849 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Unsteady gait, Dysphagia, Abnormal synaptic transmission, Bradykinesia, Blep... |
ORPHA:683 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Larsen-Like Syndrome |
|
Joint dislocation, Joint laxity, Short stature, Wide anterior fontanel, Dental malocclusion, Clef... |
OMIM:608545 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ... |
ORPHA:14 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
OMIM:160565 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Ataxia, Optic atrophy, Dysphagia, Cognitive impairment, Dystonia |
ORPHA:1171 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
Osteogenesis Imperfecta, Type Xxii |
|
Short stature, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Wo... |
OMIM:619795 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter, Decreased body we... |
OMIM:618347 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
Hao-Fountain Syndrome |
|
Large fontanelles, Delayed cranial suture closure, Aggressive behavior |
OMIM:616863 |
Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atro... |
ORPHA:228346 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, W... |
ORPHA:2070 |
Cog4-Cdg |
|
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thr... |
ORPHA:263501 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Hereditary Geniospasm |
|
Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra... |
ORPHA:254886 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Short attention span, Compulsive behaviors, Attention deficit hyperacti... |
ORPHA:444002 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Limb ataxia, Gait ataxia, Dysm... |
OMIM:615157 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy |
OMIM:617830 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Galactokinase Deficiency |
|
Psychomotor deterioration, Cataract, Small for gestational age, Hepatosplenomegaly, Increased lev... |
ORPHA:79237 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosi... |
ORPHA:79312 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Optic atrophy, Chorioretinal atrophy, Hepatosplenomegaly, Weight loss, Irritabi... |
OMIM:619487 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Mental deterioration, Retinopathy |
OMIM:610951 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Obesity, Depression, Hyperuricemia, Cognitive impairment, Memory impairment... |
ORPHA:77296 |
Gómez-López-Hernández Syndrome |
|
Cognitive impairment, Corneal opacity, Ataxia |
ORPHA:1532 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Irritability, Leu... |
ORPHA:292 |
Foxg1 Syndrome |
|
Dystonia, Inability to walk, Abnormal repetitive mannerisms, Bruxism, Choreoathetosis, Difficulty... |
ORPHA:561854 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Cognitive impairment, Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy, Dysphagia, Choreoathetosis, Dystonia, Failure to thrive |
OMIM:271930 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
Myopathy, Myofibrillar, 8 |
|
Micrognathia, Distal joint laxity, Achilles tendon contracture, Dental malocclusion, High palate,... |
OMIM:617258 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Depression, Progressive cerebellar ataxia, Dementia |
ORPHA:411590 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Short stature, Postnatal growth retardation, Metopic suture patent to nasal root, Premature poste... |
ORPHA:3369 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Postural tremor, Optic atrophy, Abnormal circulating cholesterol concentration, Cogniti... |
OMIM:270800 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Confusion, Depression, Hepato... |
ORPHA:309288 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Concave nasal ridge, Wormian bones, Pathologic fract... |
ORPHA:166277 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Broad nasal... |
OMIM:300867 |
Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Corneal opacity, Inability to walk, Optic atrophy, Developm... |
OMIM:617183 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:613153 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Progressive neurologic deteriorat... |
OMIM:300438 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph... |
OMIM:190350 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Chorioretinal hypop... |
OMIM:617303 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... |
OMIM:613849 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Sarcosinemia |
|
Ataxia, Optic atrophy, Hypersarcosinemia, Hypersarcosinuria, Emotional lability |
ORPHA:3129 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ... |
ORPHA:254881 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short stature, Micrognathia, Grayish enamel, High, narrow palate, Supe... |
ORPHA:2980 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Short stature, ... |
OMIM:610967 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Short stature, Dental crowding, Cleft soft palate, Micrognathia, Abnorm... |
OMIM:616331 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
Grant Syndrome |
|
Joint dislocation, Short stature, Depressed nasal bridge, Micrognathia, Open bite, Large fontanel... |
ORPHA:2097 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Hemidystonia, Optic atrophy, Bradykinesia, Spastic gait |
OMIM:619052 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Short stature, Dental crowding, Delayed closure of the a... |
OMIM:614008 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno... |
ORPHA:1020 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... |
OMIM:101800 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... |
ORPHA:3079 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Inability to walk,... |
OMIM:619389 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Ataxia, Impaired social interactions, Attention deficit hyperactivity disorder, Intention tremor |
ORPHA:137831 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Microcornea, Sel... |
ORPHA:819 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Aggressive behavior, Tremor, Decreased serum creatinine, Elevated circulating guanidinoac... |
OMIM:612736 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic ... |
OMIM:614877 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Coloboma, Lethargy, Failure to thrive |
OMIM:274270 |
Spinocerebellar Ataxia 7 |
|
Tremor, Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary... |
OMIM:164500 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... |
OMIM:619470 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty walking |
OMIM:619425 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ... |
OMIM:221900 |
Young-Onset Parkinson Disease |
|
Short attention span, Restless legs, Impulsivity, Tremor, Depression, Frontal lobe dementia, Brad... |
ORPHA:2828 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Short stature, Camptodactyly of finger, Abnormality of the philtrum, M... |
ORPHA:2863 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, A... |
ORPHA:290 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, Short stature, Dental crowding, Anteverted nares, Pierre-Ro... |
OMIM:617877 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Corneal opacity, Ataxia, Abnormal pupil morphology, Cornea... |
ORPHA:1764 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Hyperactivity, Aggressive behavior, Self-mutilation, Thick lower lip vermilion... |
OMIM:123450 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Short stature, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, ... |
OMIM:617883 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Irritability, Failure to thrive, Optic atrophy |
OMIM:609056 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Facial palsy, Ataxia, Aggressive behavior, Cachexia, Tr... |
ORPHA:97229 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb... |
OMIM:608104 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
Harrod Syndrome |
|
Long nose, Dental malocclusion, Joint hyperflexibility, High palate, Narrow mouth, Intrauterine g... |
ORPHA:2115 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Postnatal growth retardation, Carious teeth, Growth delay, Cortical thickening of long bone diaph... |
ORPHA:93324 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbumin... |
OMIM:618329 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Sialidosis Type 2 |
|
Ataxia, Corneal opacity, Tremor, Splenomegaly, Abnormal macular morphology |
ORPHA:87876 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Joint laxity, ... |
OMIM:601390 |
Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Optic atrophy, Ataxia |
OMIM:616737 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... |
OMIM:254900 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Xfe Progeroid Syndrome |
|
Cachexia, Optic atrophy, Corneal scarring, Hypoalbuminemia, Failure to thrive, Attenuation of ret... |
OMIM:610965 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Leber Optic Atrophy And Dystonia |
|
Dystonia, Optic atrophy, Bradykinesia, Athetosis, Dementia, Leber optic atrophy, Dysphagia |
OMIM:500001 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Emotional lability |
OMIM:613672 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative... |
ORPHA:2788 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia |
OMIM:619013 |
Lathosterolosis |
|
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... |
OMIM:607330 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Hyperactivity, Spina bi... |
OMIM:234100 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... |
ORPHA:54057 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bra... |
OMIM:617854 |
Merrf |
|
Cognitive impairment, Optic atrophy, Ataxia |
ORPHA:551 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
Zimmermann-Laband Syndrome |
|
Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival fibromatosis, Cleft palate, ... |
ORPHA:3473 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Ataxia, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Ab... |
ORPHA:2479 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Cystinosis |
|
Corneal opacity, Abnormal repetitive mannerisms, Hypokalemia, Aminoaciduria, Gait disturbance, Hy... |
ORPHA:213 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
OMIM:242150 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho... |
ORPHA:208513 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Short stature, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malo... |
ORPHA:85321 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Corneal erosion, Dysphagia, Depression, Anemia, Decrease... |
ORPHA:89842 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Abnormality iris morphology, Coloboma, Failure to thrive |
ORPHA:1617 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels |
OMIM:614504 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Mental deterioration, Lymphopenia |
OMIM:617575 |
Short Syndrome |
|
Delayed eruption of teeth, Joint laxity, Micrognathia, Underdeveloped nasal alae, Dental malocclu... |
OMIM:269880 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Wilson Disease |
|
Limb dystonia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia,... |
OMIM:277900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutropenia, Lethargy... |
ORPHA:289916 |
Coffin-Siris Syndrome 6 |
|
Short stature, Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow palate, Deep p... |
OMIM:617808 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia, Cerulean cataract |
OMIM:616732 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Short stature, Delayed erupt... |
OMIM:265800 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Trichinellosis |
|
Facial palsy, Confusion, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Irrita... |
ORPHA:863 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Short attention span, Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic at... |
ORPHA:401866 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Decreased nerve conduction velocity, Splenomegaly, Tremor, Ami... |
ORPHA:812 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Coach Syndrome 2 |
|
Coloboma, Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Dysphagia, Loss ... |
ORPHA:93399 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... |
OMIM:222470 |
Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irritability, Lethargy |
ORPHA:314911 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity |
ORPHA:104 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis... |
ORPHA:1667 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Short stature, Dental crowding, Microdontia, Cari... |
OMIM:269300 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Ataxia, Small for gestational age, Optic atrophy, Hypoplasia of the iris, Hypoalbuminem... |
OMIM:251300 |
3-Methylglutaconic Aciduria, Type I |
|
Short attention span, Ataxia, Optic atrophy, Athetosis, Dementia, Cognitive impairment, Dystonia,... |
OMIM:250950 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dystonia, Optic atrophy, Pigmentary retinopathy, Irritability, Dysphagia, Rod-cone dystrophy |
OMIM:264470 |
Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Thick lower lip vermilion, Dental malocclusion, Abnorma... |
ORPHA:2563 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Ménétrier Disease |
|
Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Joint laxity, ... |
OMIM:615546 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir... |
ORPHA:644 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Choanal stenosis,... |
OMIM:101200 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Progressive neurologic deterioration, Abnormal retin... |
ORPHA:247691 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ... |
ORPHA:899 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Immunodeficiency 43 |
|
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... |
OMIM:241600 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Postnatal growth retardation, Joint stiffness, Rhizomelia, Dental malocclusion |
OMIM:608940 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Pseudobulbar paralysis, Failure to thrive, Attenuation of retinal blood vessels |
OMIM:617082 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Tremor, Optic atrophy, Bradykinesia, Dementia, Abnormal autonomic nervous sy... |
ORPHA:329284 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, G... |
ORPHA:496790 |
Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, C... |
ORPHA:64743 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... |
ORPHA:157850 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
4H Leukodystrophy |
|
Cataract, Ataxia, Dystonia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... |
ORPHA:289494 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Steatorrhea, Thrombocytosis, Rod-c... |
OMIM:212065 |
Alexander Disease |
|
Microcoria, Ataxia, Dysmetria |
OMIM:203450 |
Lowry-Maclean Syndrome |
|
Osteopenia, Short nasal bridge, Choanal atresia, Craniosynostosis, Micrognathia, Hypoplasia of th... |
ORPHA:2409 |
Mucolipidosis Type Iii |
|
Corneal opacity, Cognitive impairment |
ORPHA:577 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Downtur... |
OMIM:265000 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Astigmatism, Optic atrophy, Depression |
OMIM:248000 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Neuhauser Syndrome |
|
Iridodonesis, Ataxia, Hypoplasia of the iris, Dysphagia, Hypercholesterolemia, Megalocornea |
OMIM:249310 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Optic atrophy, Dystonia, Lethargy, Failure to t... |
ORPHA:26792 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Cach Syndrome |
|
Cataract, Progressive neurologic deterioration, Optic atrophy, Nonketotic hyperglycinemia, Dysmet... |
ORPHA:135 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Short philtrum, High palate, Abnormal repetitive mannerisms... |
ORPHA:96121 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Disproportion... |
OMIM:259440 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate... |
OMIM:102500 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Elbow flexion contracture, Dental malocclusion, K... |
ORPHA:2920 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Keratoendotheliitis Fugax Hereditaria |
|
Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:617872 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Irritability, Dystonia, Ab... |
ORPHA:457205 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Optic atrophy, Dysmetria, Astigmatism, Cognitive impairment, Loss of ambulation, Spastic gait |
OMIM:616680 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Abnormal conjunctiva... |
ORPHA:529808 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Abnormal conjunctiva... |
ORPHA:529799 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Progressive neurologic deterioration, Optic atrophy, Neutropenia, Hype... |
OMIM:618253 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... |
OMIM:259410 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera... |
ORPHA:352665 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... |
ORPHA:309263 |
Hamamy Syndrome |
|
Osteopenia, Thin upper lip vermilion, Anteverted nares, Recurrent fractures, Craniosynostosis, Mi... |
OMIM:611174 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia |
OMIM:617086 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Dysphagia, Intention tremor |
OMIM:620221 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Prog... |
ORPHA:309271 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Small for gestational age, Aggressive behavior, Optic atrophy, Exudative vitreoreti... |
OMIM:615075 |
Scheie Syndrome |
|
Corneal opacity, Retinal degeneration |
OMIM:607016 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Joint hypermobility, Prominent nasal bridge, Oral-pharyngeal dysphagia, Postnata... |
OMIM:619184 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Optic atrophy, Anisocoria,... |
OMIM:231550 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance |
ORPHA:3151 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Ataxia, Dystonia, Abnormal retinal vascular morphology, Sp... |
ORPHA:354 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... |
ORPHA:329178 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Aggressive behavior, Tremor, Dysphagia, Depression, Impaired social interactions, Dystoni... |
OMIM:619738 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Optic atrophy, Athetosis, Dystonia, Mental deterioration, Failure to thrive |
OMIM:619310 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... |
ORPHA:2969 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Irritability, Failure to thrive, Optic atrophy, Dystonia |
OMIM:618237 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental malocclusion, Low ha... |
OMIM:613680 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le... |
OMIM:259720 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal circulating phytani... |
ORPHA:247815 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Leuk... |
ORPHA:27 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Short stature, Anteverted nares, Craniosynostosis, Wide anterior fontanel, Self-in... |
OMIM:601853 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity, Short stature, Micrognathia, Postnatal growth retardation, Intrauterin... |
OMIM:608747 |
3-Methylglutaconic Aciduria, Type Iii |
|
Cognitive impairment, Optic atrophy, Ataxia |
OMIM:258501 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Aggressive behavior, Bulbous nose, Tongue thrusting, Dental malocclusion, Bruxism, ... |
OMIM:606232 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Wide nasal ridge, Craniosynostosis, Sagittal craniosynostosis, Prominent... |
OMIM:616580 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... |
ORPHA:370959 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
C3 Glomerulopathy |
|
Drusen, Central serous chorioretinopathy, Elevated circulating creatinine concentration, Yellow/w... |
ORPHA:329918 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Thin upper lip vermilion, Cortical irregularity, Anteverted nares, Depressed nasal br... |
OMIM:249420 |
Nephronophthisis 11 |
|
Anisocoria, Polydipsia, Anemia, Retinal degeneration |
OMIM:613550 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Short stature, Selective tooth agenesis, Micrognathia, D... |
ORPHA:2959 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevated circulating creati... |
OMIM:614298 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short stature, Anteverted nares, Depressed n... |
OMIM:115150 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion, Velopharyngeal ... |
ORPHA:363444 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... |
ORPHA:88618 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
L-2-Hydroxyglutaric Aciduria |
|
L-2-hydroxyglutaric acidemia, Optic atrophy, Ataxia |
OMIM:236792 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones, Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Emotional lability |
ORPHA:254343 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Optic atrophy, Athetosis, Irritability, Gait disturbance, Loss of ambulation |
OMIM:618241 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Ataxia, Corneal opacity, Gait disturbance, Retinopathy |
ORPHA:578 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Spina bifida occulta, Bi... |
OMIM:300373 |
Prune1-Related Neurological Syndrome |
|
Cataract, Elevated circulating creatine kinase concentration, Inability to walk, Optic atrophy, R... |
ORPHA:544469 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... |
OMIM:616294 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Persistent open anterior fontanelle, Increased bone mineral density, Short s... |
ORPHA:1798 |
Schwartz-Jampel Syndrome |
|
Micrognathia, High palate, Wrist flexion contracture, Pursed lips, Increased bone mineral density... |
ORPHA:800 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Depression, Pigmentary retinopathy, Dementia, Progressive language deteriorati... |
ORPHA:79264 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Confusion, Abscess, Elevated circulating crea... |
ORPHA:36234 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Pigmentary... |
ORPHA:216866 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Co... |
OMIM:612469 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:90362 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Optic atrophy, Emotional lability, Memory impairment, Gait disturbance, Lethargy |
OMIM:603896 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma |
OMIM:603776 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Hyperactivity, Short stature, Micrognathia, Postnatal growth retardati... |
ORPHA:73272 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Thrombocytopenia, Optic atrophy, Hepatosp... |
ORPHA:505248 |
Muscle-Eye-Brain Disease |
|
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Gait disturbance, Co... |
ORPHA:588 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide ante... |
ORPHA:163649 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysphagia, Choreoathetosis, Bruxism, Retinopathy, Self-m... |
OMIM:619422 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... |
OMIM:311070 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Reduced bone mineral density, Wormi... |
OMIM:112240 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Genu recurvatum, Anteverted nares, Craniosynostosis, Micrognathia, Hypo... |
OMIM:182212 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, Lim... |
OMIM:605259 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Failure to thrive in infancy, Anemia |
OMIM:611209 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Wide... |
OMIM:614541 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Weight loss, Hypoplasia of the... |
ORPHA:3163 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Infantile Refsum Disease |
|
Failure to thrive, Cataract, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic a... |
ORPHA:772 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Depressed nasal bridge, Craniosynostosis, Postnatal growth retardation, Intrauterine ... |
OMIM:614732 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Development... |
ORPHA:93400 |
Marbach-Rustad Progeroid Syndrome |
|
Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Gro... |
OMIM:619322 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Obesity, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dy... |
OMIM:619471 |
Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia,... |
ORPHA:98755 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... |
OMIM:617302 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic atrophy, Rapi... |
ORPHA:585 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dementia, Cognitive imp... |
ORPHA:1947 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, U... |
OMIM:607115 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Tau... |
OMIM:157980 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Lethargy, Thrombocytopenia |
ORPHA:49827 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... |
ORPHA:91500 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po... |
ORPHA:100924 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole... |
OMIM:616222 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abnormal circulating serine concen... |
ORPHA:470 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Abnormal peripheral nervous system morphology, Hypoalbuminemia,... |
ORPHA:79324 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... |
OMIM:259420 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Elevated... |
OMIM:615673 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Wide nasal bridge, Oligodontia,... |
OMIM:618727 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micrognathia, Osteoarthritis, Flexio... |
ORPHA:666 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Addictive alcohol use, Cog... |
ORPHA:90065 |
Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Dementia, Optic atrophy |
OMIM:182830 |
Cerebellofaciodental Syndrome |
|
Short stature, Aggressive behavior, Dental malocclusion, Genu valgum, Taurodontia, Macrodontia of... |
OMIM:616202 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Increased body weight, Depre... |
ORPHA:905 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Obesity |
ORPHA:254531 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ... |
OMIM:175780 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma |
OMIM:144010 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, Dystonia, Hyperalaninemia |
OMIM:245349 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Congenital hip dislocation, Growth delay, Macroglossia, Wormian bones |
OMIM:614450 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dystonia, Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Limb a... |
OMIM:258450 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Wide nose, Short statu... |
OMIM:614188 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... |
ORPHA:85443 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Short attention span, Exaggerated startle response, Irritability |
OMIM:617864 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity, Depression, Abnormal emotion, Lethargy |
ORPHA:238624 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Wormia... |
OMIM:601224 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Cataract, Ataxia, Morning glory anomaly, Optic atrophy, Dementia, Gait disturb... |
ORPHA:98673 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Severe short stature, Abnormal zygomatic bone morphol... |
ORPHA:2511 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Dysphagia, Gai... |
OMIM:210000 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys... |
OMIM:617964 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Dystonia, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Bradykines... |
OMIM:601338 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Irritability, Self... |
ORPHA:449291 |
Sclerosteosis 1 |
|
Mandibular prognathia, Depressed nasal bridge, Sclerotic scapulae, Dental malocclusion, Wide nasa... |
OMIM:269500 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal emotion, Attention deficit hyperactivity d... |
ORPHA:1942 |
Noonan Syndrome 4 |
|
Short stature, Depressed nasal bridge, Dental malocclusion, Wide mouth, Thick vermilion border, C... |
OMIM:610733 |
Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia |
ORPHA:1186 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Smal... |
OMIM:301056 |
Lissencephaly 8 |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Decreased skul... |
ORPHA:1452 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... |
OMIM:615145 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dyston... |
OMIM:312080 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Optic atrophy, Irritability, Dysphagia, Lethargy, Failure to thrive |
OMIM:618226 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia, Failure to thrive |
OMIM:617954 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Short stature, Antevert... |
ORPHA:97360 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Elevated c... |
OMIM:223900 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Ataxia, Optic disc pallor, Irritability |
OMIM:615281 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy... |
OMIM:251880 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cogniti... |
OMIM:607259 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Fl... |
OMIM:180849 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Short nose, Den... |
OMIM:616894 |
Zellweger Syndrome |
|
Failure to thrive, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots... |
ORPHA:912 |
Revesz Syndrome |
|
Aplastic anemia, Ataxia, Progressive neurologic deterioration, Leukocoria, Exudative retinopathy,... |
OMIM:268130 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... |
OMIM:118650 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Memory imp... |
ORPHA:99013 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Weight loss |
ORPHA:317 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali... |
ORPHA:970 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ... |
OMIM:249270 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Aminoaciduria, Lentiglobus, Co... |
ORPHA:534 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Anemia, Abnormal cir... |
OMIM:615838 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Attention deficit hyperactivity disorder, Acute leukemia |
ORPHA:281090 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Dental crowding, Abnormalit... |
OMIM:618371 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Cognitive impairment, Dysp... |
ORPHA:1177 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Postnatal growth retardation,... |
OMIM:613320 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Ataxia, Elevated circulating creatine... |
OMIM:610377 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... |
OMIM:617166 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking, Dystonia... |
ORPHA:401768 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Anteverted nares, Prominent nasal bridge, Proportionate short stature, Trismus,... |
OMIM:227330 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary r... |
OMIM:222300 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Iron deficiency anemia, Astigmatism, Decreased serum cre... |
OMIM:618885 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Peripheral axonal neuropathy, Hyperactivity, Ata... |
ORPHA:35069 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Bifid uvula, Anteverted nares, Sup... |
OMIM:211380 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... |
OMIM:259600 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Restlessness, Elevated circulating hexacosanoic acid concentration, Optic atro... |
OMIM:614388 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrop... |
OMIM:612674 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Emot... |
OMIM:608643 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Recurrent fractures,... |
ORPHA:2050 |
Localized Scleroderma |
|
Abnormality of the dentition, Abnormality of the nose, Flexion contracture, Dental malocclusion, ... |
ORPHA:90289 |
Infantile Cerebellar-Retinal Degeneration |
|
Retinal dystrophy, Ataxia, Optic atrophy, Athetosis, Decreased body weight, Failure to thrive |
OMIM:614559 |
Myopathy, Centronuclear, X-Linked |
|
Flexion contracture, High palate, Dental malocclusion |
OMIM:310400 |
Multiple Sulfatase Deficiency |
|
Ataxia, Corneal opacity, Splenomegaly, Rapid neurologic deterioration, Peripheral demyelination, ... |
OMIM:272200 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Optic atrophy, Gait disturbance, Chorioretinal coloboma, Failur... |
ORPHA:163937 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Leber Congenital Amaurosis 14 |
|
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Syndromic Diarrhea |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus... |
ORPHA:84064 |
Six2-Related Frontonasal Dysplasia |
|
Absent/hypoplastic paranasal sinuses, Short stature, Depressed nasal bridge, Broad nasal tip, Wid... |
ORPHA:488437 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Optic atrophy, Increased mean platelet volume |
ORPHA:487796 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dys... |
ORPHA:324737 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Joint hypermobility, Prominent n... |
ORPHA:357058 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Hi... |
ORPHA:2780 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning, Ataxia |
OMIM:618970 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Elevated circulating creatinine concentration, Attenuation of retinal blood vessels |
OMIM:614376 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin... |
OMIM:236670 |
Osteopetrosis, Autosomal Recessive 3 |
|
Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis |
OMIM:259730 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Tremor, Unsteady gait, Optic atrophy, Difficulty walking, Attention deficit ... |
ORPHA:442835 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Isolated Atp Synthase Deficiency |
|
Cataract, Ataxia, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Rod-cone dystrophy, L... |
ORPHA:254913 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Wi... |
ORPHA:73223 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration... |
OMIM:274150 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis |
ORPHA:1885 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, A... |
OMIM:609033 |
Laron Syndrome |
|
Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Optic atrophy, Hyperammonemia, Choreoathetosis, Dysphagia, Loss of ambula... |
ORPHA:391428 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Congenital hip dislocation, Narrow nasal ridge, Bulbous nose, Large fontanelles, High... |
OMIM:612940 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Anteverted... |
ORPHA:444072 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, O... |
ORPHA:52368 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Dystonia, Mental deteri... |
OMIM:612319 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Blepharospa... |
ORPHA:233 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Anteverted nares, Micrognathia, Multiple prenatal fractures, Flexio... |
OMIM:616897 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Narrow nasal ridge, Micrognathia, Flexion contracture, Short nose, Hypoplasia of... |
OMIM:608612 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... |
OMIM:267750 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Short stature, Narrow nasal ridge, Large fontan... |
OMIM:219150 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Hypopla... |
OMIM:214110 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Elevated circulating creatinine concentration, Peripheral demyelination |
OMIM:616733 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Bulbous nose, Nar... |
OMIM:618644 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Slender nose, Short stature, Delayed eruption of primary ... |
OMIM:216400 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Optic atrophy, Irritability, Difficulty walking, Dystonia |
ORPHA:79097 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Short stature, Recurrent fractures, Dentinogenesis imperfecta, Os... |
OMIM:614856 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Microcytic anemia, Optic atrophy, Coloboma, Dysphagia, Failure to thrive |
OMIM:612379 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivit... |
ORPHA:353281 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... |
OMIM:598500 |
Serotonin Syndrome |
|
Restlessness, Confusion, Tremor, Mental deterioration, Irritability, Agitation, Abnormality of th... |
ORPHA:43116 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo... |
OMIM:209885 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Optic atrophy, Retinal dysplasia, Gait disturbance |
ORPHA:272 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, ... |
ORPHA:289560 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Ataxia |
ORPHA:85297 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Martin-Probst Syndrome |
|
Short stature, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, W... |
OMIM:300519 |
Cinca Syndrome |
|
Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ... |
ORPHA:1451 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Inability to walk, Abnormal pupil morphology, Anisocoria, St... |
ORPHA:90658 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... |
OMIM:617093 |
Triple A Syndrome |
|
Ataxia, Optic atrophy, Iris coloboma, Motor axonal neuropathy |
ORPHA:869 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Convex nasal ridge, Narrow nasal ridge, Micrognathia, Postnatal grow... |
OMIM:248370 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, High palate, Ti... |
OMIM:616364 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss ... |
ORPHA:225154 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Failure to thrive |
OMIM:614739 |
Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, Optic disc pallor, Astigmatism |
OMIM:619328 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Short stature, Osteom... |
ORPHA:289157 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Severe short stature, Prominent nasal bridge, Delayed erupti... |
OMIM:133540 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
ORPHA:412 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrophy, Dysmetria, Athetosis,... |
OMIM:617710 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Irritability, Failure to thrive, Optic atrophy |
OMIM:607196 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Alg8-Cdg |
|
Hyponatremia, Cataract, Ataxia, Small for gestational age, Thrombocytopenia, Optic atrophy, Failu... |
ORPHA:79325 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Depression, Attention deficit hyperactivity disorder, Hypercholesterolemia, Ab... |
ORPHA:90674 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Corneal opacity, Small for gestational age, Thrombocytopenia, Hyperlipidemia, ... |
ORPHA:1830 |
Developmental And Epileptic Encephalopathy 93 |
|
Inability to walk, Optic atrophy, Iris coloboma, Gait disturbance |
OMIM:618012 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Inability to walk, Corneal opacity |
OMIM:166300 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Eosinophilia, R... |
ORPHA:464 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Dystonia, Emotional lability, Failure to thrive |
OMIM:256000 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Hypoalbuminemia, Anemia, Corneal opacity |
ORPHA:79396 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Delayed closure of the anterior fontanelle, Carious teeth, Birth len... |
OMIM:244460 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity |
ORPHA:96184 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short stature, Antever... |
OMIM:303600 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos... |
OMIM:604757 |
Bruck Syndrome 2 |
|
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... |
OMIM:609220 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ... |
OMIM:608804 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Short stature, Disproportionate short-trunk short stature, Dental malo... |
ORPHA:1855 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Leukodystrophy, Hypomyelinating, 15 |
|
Dystonia, Ataxia, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation, Failure to thrive, Int... |
OMIM:617951 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... |
ORPHA:309256 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Abnormality of the dent... |
OMIM:617952 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Cataract, Corneal opacity, Ataxia, Progressive neurologic deterioration, Aggressiv... |
ORPHA:581 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:611134 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein Ib, Th... |
OMIM:603585 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Depress... |
ORPHA:845 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Increased susc... |
OMIM:610968 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Ataxia, Xanthelasma, Abnormal circulating cholesterol concentration,... |
OMIM:213700 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... |
ORPHA:95717 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Choroideremia, Anemia, Iris hypopi... |
ORPHA:2719 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... |
ORPHA:353277 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Mepan Syndrome |
|
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Optic atrophy, Gait disturbance, D... |
ORPHA:508093 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Splenomegaly, Corneal opacity |
ORPHA:93476 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Hyperlipidem... |
ORPHA:324 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Wide nose, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Dental maloc... |
OMIM:601552 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... |
OMIM:614170 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Miller Fisher Syndrome |
|
Ataxia, Facial palsy, Anisocoria, Dysphagia, Mydriasis |
ORPHA:98919 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Wormian bones, Intrauter... |
OMIM:616603 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... |
OMIM:618975 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Superficial Siderosis |
|
Ataxia, Unsteady gait, Abnormality of the vestibulocochlear nerve, Dysmetria, Anisocoria, Abnorma... |
ORPHA:247245 |
Mandibuloacral Dysplasia |
|
Dental crowding, Narrow nose, Micrognathia, Postnatal growth retardation, Abnormal tongue morphol... |
ORPHA:2457 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
Bruck Syndrome |
|
Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Wormian bones, Arthrogryposis ... |
ORPHA:2771 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Emotional lability, Corneal ulceration, Abnormal auto... |
OMIM:256800 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tre... |
ORPHA:72 |
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 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Progressive psychomotor deterioration, Optic atrophy, Progressive cer... |
ORPHA:263516 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani... |
OMIM:616959 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Corneal opacity, Short attention... |
ORPHA:580 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul... |
OMIM:619260 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Cataract, Ataxia, Aggressive behavior, Optic atrophy, Irritability, Self-inju... |
OMIM:619833 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Dystonia, Ataxia, Akinesia, Acanthocytosis, Tremor, Optic atrophy, Pho... |
OMIM:234200 |
Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Dysphagia, Self-injurious behavior, Astigmatism, Chorioretinal coloboma, Peters an... |
ORPHA:494344 |
Farber Disease |
|
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Macular degeneration, Abnormal conjunctiva... |
ORPHA:333 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:607694 |
Krabbe Disease |
|
Failure to thrive, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atroph... |
OMIM:245200 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Antley-Bixler Syndrome |
|
Anteverted nares, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness... |
ORPHA:83 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Trem... |
ORPHA:646 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Flexion contracture, Wide nasa... |
OMIM:619383 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy, Dysphagia |
OMIM:619527 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Aminoaciduria, Hyp... |
OMIM:619055 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic... |
ORPHA:401777 |
Faciocardiomelic Syndrome |
|
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide mou... |
OMIM:612731 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Ataxia |
OMIM:616881 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bri... |
ORPHA:364577 |
Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ... |
ORPHA:562 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Increased body weight, Weight loss, Leukopenia, Hy... |
ORPHA:2298 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Holoprosencephaly 9 |
|
Short stature, Hypoplasia of the premaxilla, Depressed nasal bridge, Cleft upper lip, Hypoplasia ... |
OMIM:610829 |
48,Xxxy Syndrome |
|
Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorma... |
ORPHA:96263 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Splenomegaly, Optic atrophy, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Wide nasal bridge, Metopic synostosis, Camptodactyly of toe, Umbilical hernia, ... |
OMIM:175700 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge |
OMIM:615560 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Dystonia, Ataxia, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Atheto... |
OMIM:617282 |
Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification of the corneal stroma, ... |
OMIM:252600 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:616204 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Uveitis, Hepatosplenomegaly, Depression, Weight los... |
ORPHA:171 |
Parietal Foramina 1 |
|
Wormian bones, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Persistence of primary teeth, Postnatal growth retardation, Carious teeth, Growth ... |
ORPHA:93325 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Menkes Disease |
|
Joint laxity, Short stature, Osteoporosis, Wormian bones, Intrauterine growth retardation |
OMIM:309400 |
Tangier Disease |
|
Peripheral axonal neuropathy, Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosple... |
ORPHA:31150 |
Meningococcal Meningitis |
|
Papilledema, Elevated circulating C-reactive protein concentration, Anorexia, Irritability, Lethargy |
ORPHA:33475 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Arachnoid Cyst |
|
Facial palsy, Inability to walk, Cranial nerve compression, Depression, Social and occupational d... |
ORPHA:2356 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Failure to thrive, Corneal dystrophy |
ORPHA:52 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Failure to t... |
OMIM:614702 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior... |
ORPHA:85184 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Pigmentary retin... |
ORPHA:502423 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor |
OMIM:618688 |
Alagille Syndrome 1 |
|
Posterior embryotoxon, Hypertriglyceridemia, Cataract, Failure to thrive, Band keratopathy, Chori... |
OMIM:118450 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... |
ORPHA:95433 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Camptodactyly, Joi... |
OMIM:113000 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
Silver-Russell Syndrome 1 |
|
Downturned corners of mouth, Intrauterine growth retardation, Delayed cranial suture closure, Mic... |
OMIM:180860 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Mohr Syndrome |
|
Median cleft lip, Short stature, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, H... |
OMIM:252100 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Micrognathia, Hip dislocatio... |
ORPHA:2484 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia... |
OMIM:610217 |
Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Dysphagia, Aggressive behavior |
ORPHA:289483 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, H... |
OMIM:119600 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Short stature, Anteverted nares, Depressed nasal bridge, Macroglossia, Severe postnatal growth re... |
OMIM:613038 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Lethargy, Delirium, Re... |
ORPHA:79282 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Developmental cataract, Vit... |
OMIM:620185 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape |
ORPHA:45358 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral d... |
OMIM:166220 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Osteopenia, Rhizomelia, Short stature, Recurrent fractures, Tooth agenesis, De... |
OMIM:616229 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Hypoalbuminemia |
OMIM:235510 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Marinesco-Sjögren Syndrome |
|
Abnormal circulating creatine kinase concentration, Optic atrophy, Ataxia, Cataract |
ORPHA:559 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... |
ORPHA:254930 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Ataxia, Tremor, Optic atrophy, Uveitis, Anemia, Pi... |
ORPHA:90321 |
Brachyolmia Type 1, Toledo Type |
|
Gait disturbance, Opacification of the corneal stroma |
OMIM:271630 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Increased... |
ORPHA:79240 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Progress... |
ORPHA:2131 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, ... |
ORPHA:275761 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Infant Botulism |
|
Hyponatremia, Anorexia, Keratoconjunctivitis sicca, Dysphagia, Mydriasis |
ORPHA:178478 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Severe short stature,... |
OMIM:231070 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... |
OMIM:618249 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Polydipsia, Retinal dystrophy, Anemia |
OMIM:266900 |
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 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation, Alpha-... |
OMIM:620089 |
Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... |
ORPHA:314647 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Cataract, Small for gestational age, Dysmetria, De... |
OMIM:606721 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Optic atrophy, Obesity |
OMIM:614651 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Severe short stature, Joint stiffness, Elbow dislocation, Large fontanelles, Delayed cranial sutu... |
ORPHA:2249 |
Grant Syndrome |
|
Wormian bones, Micrognathia |
OMIM:138930 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Elevated circulating creatine kinase concentration, Elevated circulating long chain fat... |
OMIM:608836 |
Gaucher Disease |
|
Pancytopenia, Corneal opacity, Ataxia, Elevated circulating C-reactive protein concentration, Tre... |
ORPHA:355 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... |
OMIM:611490 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Persistence of primary teeth, B... |
OMIM:300166 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Re... |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m... |
OMIM:613150 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia |
OMIM:174900 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... |
ORPHA:279914 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Corneal opacity, Small for gestational age, Astigmatism, G... |
ORPHA:464311 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Optic atrophy, Developmental cataract, Pigmen... |
OMIM:613154 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Titubation... |
ORPHA:98768 |
Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Confusion, Short attention sp... |
ORPHA:309282 |
Neuronal Intranuclear Inclusion Disease |
|
Dementia, Optic atrophy, Ataxia |
ORPHA:2289 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, Dysphagia, Progressive cerebellar ataxia, Dystonia, Mental deterioration |
OMIM:618868 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Abnormal opti... |
ORPHA:3226 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Short stature, Ant... |
OMIM:607812 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... |
ORPHA:790 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia |
ORPHA:2801 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Wide nose, Micrognathia, Joint stiffness, Prominent nose, Long nose, Lar... |
ORPHA:2995 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Cataract, Aganglionic megacolon, Aggressive behavior, Splenomegaly, Hypoalbuminemi... |
OMIM:270400 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Absent ossification of calvaria, Multiple prenatal fractures, Large fontanel... |
OMIM:166210 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae |
OMIM:615877 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Underdeveloped nasal alae, Postnatal growth retar... |
ORPHA:276432 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Oral-pharyng... |
OMIM:615273 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Microcytic anemia, Optic atrop... |
OMIM:251900 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Hurler Syndrome |
|
Corneal opacity, Progressive neurologic deterioration, Splenomegaly, Hepatosplenomegaly, Opacific... |
OMIM:607014 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617729 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysmetria, Limb atax... |
OMIM:164400 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Cognitive impairment |
ORPHA:1794 |
Craniosynostosis 4 |
|
Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Me... |
OMIM:600775 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Cataract, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cho... |
OMIM:617988 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Dementia, Optic atrophy, Ataxia |
ORPHA:1173 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Dystonia, Mental de... |
OMIM:250100 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Brushfield spots, Unsteady gait, Pigmentary retinopathy, Aminoacidur... |
OMIM:214100 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Ataxia, Optic atrophy, Depression, Head tremor, Mental deterioration, M... |
ORPHA:314404 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia |
OMIM:618233 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Abnormal erythrocyte enzyme leve... |
ORPHA:1187 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu... |
OMIM:616602 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Cleft palate, Widel... |
OMIM:228520 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Amin... |
ORPHA:411634 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria, Dysphagia |
OMIM:300858 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... |
OMIM:309000 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Silver-Russell Syndrome |
|
Short stature, Dental crowding, Micrognathia, Postnatal growth retardation, Downturned corners of... |
ORPHA:813 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Orthostatic hypotension, Abnormal circulating lipid concentration,... |
ORPHA:186 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Optic atrophy, Dysmetria,... |
ORPHA:95 |
Trisomy 10P |
|
Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of the ... |
ORPHA:171929 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontane... |
OMIM:610915 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Ataxia, Chronic myelogenous leuke... |
ORPHA:636 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Ataxia, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, Gait disturbance... |
ORPHA:395 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal... |
OMIM:609541 |
Steinert Myotonic Dystrophy |
|
Short attention span, Peripheral axonal neuropathy, Oral-pharyngeal dysphagia, Aggressive behavio... |
ORPHA:273 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
Oligomeganephronia |
|
Small for gestational age, Polydipsia, Optic disc coloboma, Elevated circulating creatinine conce... |
ORPHA:2260 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Joint laxity, Short stature, Choa... |
OMIM:151050 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short stature, Dental crowding, Joint hypermobility, Micrognathia, Meningocele,... |
OMIM:130720 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Short stature, Delayed closure... |
ORPHA:2962 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Recurrent fractures, Prominent nasal bridge... |
OMIM:601812 |
Distal Deletion 13Q |
|
Optic atrophy, Iris coloboma, Cognitive impairment |
ORPHA:1590 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Stt3B-Cdg |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Leu... |
ORPHA:36238 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Cataract, Small for gestational age, Conjugated hyperbilirubinemia, Brushfield... |
OMIM:614866 |
Opticocochleodentate Degeneration |
|
Mental deterioration, Optic atrophy |
OMIM:258700 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Tru... |
OMIM:619259 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Aminoaciduria, Hypoka... |
ORPHA:411629 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Failure to thrive, Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis |
OMIM:613559 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Mydriasis, Confusion, Anisocoria... |
ORPHA:79138 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, I... |
OMIM:614381 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Optic atrophy, Mental deterioration, Depression, Progressive gait ataxia, F... |
ORPHA:329308 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Optic atrophy, Hypochromic microcytic anemia, Normochromi... |
ORPHA:66634 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Cognitive ... |
ORPHA:79259 |
Cockayne Syndrome |
|
Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Postnatal gr... |
ORPHA:191 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia |
OMIM:180200 |
Leber Optic Atrophy |
|
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... |
OMIM:535000 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Dental malocclusion, Anosmia, Cleft palat... |
OMIM:603457 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension, Ataxia, Dysphagia |
OMIM:615510 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Microdontia, Joint laxity, Short stature, Anteverted nares, Depr... |
OMIM:194050 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Coloboma, Corneal opacity |
OMIM:163200 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Failure to thrive, Facial palsy, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyp... |
OMIM:259700 |
Hurler Syndrome |
|
Corneal opacity, Splenomegaly, Depression, Abnormal nerve conduction velocity, Retinopathy |
ORPHA:93473 |
Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Splenomegaly, Optic atrophy, Progressive psychomotor deterioration, Gait disturbance, Sea... |
OMIM:230600 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria, Cognitive impairment |
ORPHA:1556 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Dysphagia, Mydriasis |
ORPHA:254509 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Compulsive behaviors, Microdontia, Spina bifida occulta, Joint laxity, ... |
ORPHA:904 |
Monosomy 22Q13.3 |
|
Hyperactivity, Dental crowding, Hair-pulling, Bulbous nose, Dental malocclusion, Wide nasal bridg... |
ORPHA:48652 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Carpenter Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Carious teeth, High, narrow palate, D... |
OMIM:614976 |
Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... |
ORPHA:95716 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Small for gestational age, Developmental cataract, Retin... |
OMIM:127000 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Birk-Landau-Perez Syndrome |
|
Dystonia, Failure to thrive in infancy, Hyperkalemia, Optic atrophy, Limb ataxia, Choreoathetosis... |
OMIM:617595 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia, Dystonia |
ORPHA:79233 |
Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Corneal opacity, Inability to walk, Diminished ability to concentrate, Difficulty ... |
ORPHA:239 |
Intestinal Botulism |
|
Dysphagia, Mydriasis |
ORPHA:178481 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, High, narrow p... |
ORPHA:2789 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Weig... |
ORPHA:1302 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae, Abnormal B cell morphology, Attention... |
OMIM:618223 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Toxin-Mediated Infectious Botulism |
|
Dysphagia, Mydriasis |
ORPHA:230800 |
Tenorio Syndrome |
|
Mandibular prognathia, Osteopenia, Joint laxity, Wide nose, Anteverted nares, Wide mouth, Macrogl... |
OMIM:616260 |
Fg Syndrome Type 1 |
|
Abnormal social behavior, Broad-based gait, Compulsive behaviors, Attention deficit hyperactivity... |
ORPHA:93932 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Abnormal dental morphology, Tarsal synostosis, Abnormal dental enamel... |
ORPHA:85199 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec... |
ORPHA:955 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spleen... |
ORPHA:2072 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Inability to walk, Splenomegaly, Optic atrophy, Aminoaciduria... |
OMIM:617913 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones, Rhizomelia, Thin bony cortex |
OMIM:619638 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Short stature, Depressed nasal bridge, Craniosynostosis, Micrognathia,... |
ORPHA:235 |
Mucopolysaccharidosis Type 1 |
|
Retinopathy, Splenomegaly, Optic atrophy, Corneal opacity |
ORPHA:579 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirub... |
OMIM:613658 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Failure to thrive, Small for gestational age, Inabili... |
ORPHA:404454 |
Gapo Syndrome |
|
Anteverted nares, Joint hypermobility, Delayed closure of the anterior fontanelle, Micrognathia, ... |
OMIM:230740 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Corneal opacity, Small for gestational age, Astigmatism, Gait d... |
ORPHA:464306 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Corneal opacity, Hypocalcemia, Astigmatism |
ORPHA:2323 |
Biotinidase Deficiency |
|
Ataxia, Splenomegaly, Optic atrophy, Hyperammonemia, Conjunctivitis, Lethargy |
OMIM:253260 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Pituitary Apoplexy |
|
Hyponatremia, Confusion, Increased circulating cortisol level, Normochromic anemia, Mydriasis |
ORPHA:95613 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Optic atrophy, Mental deterioration, Inappropriate laughter, Difficulty walking, Hypocalc... |
OMIM:618476 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Aggressive behavior... |
ORPHA:495875 |
Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration, Ataxia |
OMIM:268800 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion |
ORPHA:83601 |
Cerebral Visual Impairment |
|
Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr... |
ORPHA:447788 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Cataract, Tremor, Inability to walk, Development... |
ORPHA:99956 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Thin upper lip vermilion, Severe short stature, Severe generalized osteoporosis,... |
OMIM:210730 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Liver abscess, Obesity |
ORPHA:69663 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Cognitive impair... |
ORPHA:2092 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia, Elevated c... |
OMIM:616878 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri... |
OMIM:614077 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Increased bone mineral density, Severe short stature, Abnormal dental enam... |
ORPHA:2658 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Small for gestational age, Thrombocytopenia, Abnormal T cell morphol... |
OMIM:242900 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ... |
OMIM:256540 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Normo... |
OMIM:618775 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Oc... |
OMIM:612582 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Osteoporosis, Disproportionate short-limb short stature, Wormian bones, Join... |
OMIM:619131 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma, Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short stature, Abnormality of the dentition, Flexion contracture, Large fontanelles, Limitation o... |
ORPHA:90153 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Short attention span, Corneal opacity, Abnormal... |
ORPHA:217093 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short stature, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Flexion contracture, Hi... |
OMIM:300232 |
Fraser Syndrome 1 |
|
Encephalocele, Wide nose, Cleft ala nasi, Dental crowding, Depressed nasal bridge, Cleft upper li... |
OMIM:219000 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Short stature, Depressed nasal bridge, Craniosynostosis, Promine... |
ORPHA:794 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Wide cranial sutures, Short stature, Protrusio acetabuli, Rhizomelia, Recurrent fract... |
OMIM:610682 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Wound Botulism |
|
Dysphagia, Mydriasis |
ORPHA:178475 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity, Splenomegaly, Corneal opacity |
ORPHA:93474 |
Tyrosinemia Type 2 |
|
Tremor, Corneal opacity, Ataxia |
ORPHA:28378 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Elevated circulating creatinine concentration, Anemia, Increased blood u... |
ORPHA:230 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology |
ORPHA:250999 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Joint laxity, Narrow nasal bridge, Congenital hip dislocation, Short s... |
OMIM:305600 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Optic atrophy, Lethargy, Megalocornea, Failure to thrive, Congenital aphakia |
ORPHA:137675 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp... |
ORPHA:217085 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Ataxia, Optic atrophy, Depression, Dementia, Memory impairment |
OMIM:604121 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... |
ORPHA:49041 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Progressive psychomotor deterioration, Juvenile cataract, Ataxia, Depression... |
ORPHA:909 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Smooth philtrum, Delayed eruption of teeth, Congenital hip dislocation, Short ... |
OMIM:278250 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Osteopenia, Limitation of joint mobility, Large fontanelles, Osteoporosis, Osteolyti... |
OMIM:259100 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia |
ORPHA:542323 |
Noonan Syndrome 1 |
|
Short stature, Micrognathia, Postnatal growth retardation, High, narrow palate, Dental malocclusi... |
OMIM:163950 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Dislocated radial head, Joint laxity, ... |
OMIM:268310 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Aminoaciduria, Gait disturbance, Failure to thrive... |
ORPHA:436271 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Prominent metopic ridge, Short stature, Depressed nasal bridge, Cranios... |
ORPHA:1272 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Splenomegaly, Opacification of the corneal stroma, Dystonia, Failure to thrive, Thrombo... |
OMIM:251290 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Tbck-Related Intellectual Disability Syndrome |
|
Inability to walk, Abnormal circulating lipid concentration, Corneal opacity, Cognitive impairment |
ORPHA:488632 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Dpagt1-Cdg |
|
Failure to thrive, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Optic atroph... |
ORPHA:86309 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Obesity, Aniridia, Iris coloboma |
ORPHA:251038 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ... |
OMIM:253800 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Abnormal repetitive mannerisms, Obesity, Difficulty walking |
OMIM:618653 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Compulsive behaviors, Atten... |
ORPHA:177907 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Short stature, Delayed closure... |
ORPHA:2834 |
Triploidy |
|
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Mucopolysaccharidosis Type 4 |
|
Cognitive impairment, Corneal opacity, Gait disturbance |
ORPHA:582 |
Cerebrocostomandibular Syndrome |
|
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... |
ORPHA:1393 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... |
OMIM:166200 |
Botulism |
|
Dysphagia, Mydriasis |
ORPHA:1267 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy |
OMIM:616562 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Short stature, Depressed nasal ... |
OMIM:601088 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Short stature, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Postnatal gr... |
OMIM:619127 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Deep philtrum, Short philtr... |
OMIM:300855 |
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 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation |
ORPHA:2311 |
Foodborne Botulism |
|
Dysphagia, Mydriasis |
ORPHA:228371 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thicknes... |
ORPHA:293967 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... |
OMIM:213300 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O... |
ORPHA:425 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Fraser Syndrome |
|
Encephalocele, Cleft ala nasi, Dental crowding, Depressed nasal bridge, Cleft upper lip, Underdev... |
ORPHA:2052 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Ataxia, Tremor, Bradykinesia, Abnormal autonomic nervous s... |
OMIM:146500 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma |
ORPHA:3301 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
OMIM:607015 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Large fontanelles, Cleft palate, Lambdoidal craniosynostosis, Malar fl... |
OMIM:603116 |
Cocaine Intoxication |
|
Elevated circulating creatine kinase concentration, Tremor, Agitation, Mania, Delirium, Mydriasis |
ORPHA:90068 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo... |
OMIM:610505 |
Cystinosis, Nephropathic |
|
Hyponatremia, Failure to thrive in infancy, Progressive neurologic deterioration, Oral-pharyngeal... |
OMIM:219800 |
Hennekam-Beemer Syndrome |
|
Wide nose, Short stature, Camptodactyly of finger, Micrognathia, Long nose, Thick lower lip vermi... |
ORPHA:2135 |
Carpenter Syndrome 1 |
|
Optic atrophy, Obesity, Microcornea, Polysplenia, Opacification of the corneal stroma |
OMIM:201000 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Oculodentodigital Dysplasia |
|
Cataract, Ataxia, Optic atrophy, Abnormality iris morphology, Microcornea, Gait disturbance |
ORPHA:2710 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Enlarged peripheral nerve, Hyperch... |
OMIM:151660 |
Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Short philtrum, Wormian bones, Umbilical hernia |
OMIM:617237 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment, Dysphagia |
OMIM:617527 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Biotinidase Deficiency |
|
Ataxia, Optic neuropathy, Optic atrophy, Hyperammonemia, Conjunctivitis, Lethargy |
ORPHA:79241 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emoti... |
ORPHA:428 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina... |
ORPHA:141099 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tre... |
OMIM:615512 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... |
ORPHA:42775 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... |
OMIM:615688 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Optic atrophy, Optic neuropathy, Depression |
OMIM:604928 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... |
ORPHA:1675 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Dental ... |
OMIM:613795 |
Hemorrhagic Fever-Renal Syndrome |
|
Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr... |
ORPHA:340 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Pr... |
ORPHA:90324 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Cataract, Sclerocornea |
OMIM:614230 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Optic atrophy, Aminoaciduria, Opacifica... |
ORPHA:910 |
Marshall-Smith Syndrome |
|
Irregular dentition, Large sternal ossification centers, Glossoptosis, Short philtrum, High palat... |
OMIM:602535 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Meg... |
ORPHA:536471 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Anteverted nares, Depressed nasal bridge... |
OMIM:312870 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati... |
OMIM:308300 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... |
OMIM:619534 |
Fountain Syndrome |
|
Spina bifida occulta, Short stature, Spina bifida |
ORPHA:3219 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Smooth philtrum, Depressed nasal bridge, Craniosynostosis, Micrognathia, Depressed nasal tip, Sev... |
OMIM:620005 |
Fucosidosis |
|
Failure to thrive, Corneal opacity |
ORPHA:349 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive, Retinal dystrophy, Chorioretinal dysplasi... |
ORPHA:2556 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Broad-based gait, Cataract, Aganglionic megacolon, Asplenia, Inability to walk, Abn... |
ORPHA:261552 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Anteverted nares, Depressed nas... |
OMIM:269150 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormal optic disc morphology |
OMIM:617516 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Al-Gazali Syndrome |
|
Failure to thrive, Corneal opacity, Sclerocornea |
OMIM:609465 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Anteverted nares, Recurrent fractures, Depressed nasal bridge, ... |
OMIM:618188 |
Halperin-Birk Syndrome |
|
Inability to walk, Optic atrophy, Developmental cataract, Pseudobulbar paralysis, Failure to thrive |
OMIM:618651 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Growth delay |
OMIM:614424 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity |
ORPHA:584 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... |
ORPHA:2839 |
Encephalocraniocutaneous Lipomatosis |
|
Retinopathy, Iris coloboma, Corneal opacity |
ORPHA:2396 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... |
ORPHA:29073 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Optic atr... |
OMIM:614947 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Chime Syndrome |
|
Retinal coloboma, Acute leukemia, Corneal opacity |
ORPHA:3474 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Scorpion Envenomation |
|
Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Hypokalemia, Increas... |
ORPHA:466677 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Low plasma... |
ORPHA:255210 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Keratitis, Axonal degeneration, Optic atrophy, Scissor gait, Choreoathetosis, Conjunctivi... |
OMIM:278800 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis |
OMIM:619727 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Pulmonary carcinoid tumor |
ORPHA:363618 |
Alg9-Cdg |
|
Microretrognathia, Smooth philtrum, Prominent metopic ridge, Thin upper lip vermilion, Rhizomelia... |
ORPHA:79328 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Aganglionic megacolon, Sclerocornea, Optic atrophy, Self-injurious behavior, Elevated c... |
ORPHA:818 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy, Obesity |
OMIM:612291 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Asplenia, Optic atro... |
ORPHA:564 |
Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Leptospirosis |
|
Papilledema, Anorexia, Retinal hemorrhage, Uveitis, Chorioretinitis, Hyperproteinemia, Optic neur... |
ORPHA:509 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma |
OMIM:309801 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel |
OMIM:601356 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Menkes Disease |
|
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Osteoporosis, Abnormal palat... |
ORPHA:565 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma |
OMIM:206900 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Mucopolysaccharidosis Type 6 |
|
Cognitive impairment, Splenomegaly, Failure to thrive, Opacification of the corneal stroma |
ORPHA:583 |
Moebius Syndrome |
|
Corneal opacity, Facial palsy, Dysphagia |
ORPHA:570 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Cataract, Iris coloboma, Developmental cataract |
OMIM:181270 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Retinal infarction, Mydriasis |
OMIM:613834 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Short stature |
ORPHA:2031 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyponatremia, Neutrophilia, Facial palsy, Anorexia, Tr... |
ORPHA:79139 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Corneal opacity |
OMIM:253220 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Lathosterolosis |
|
Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co... |
ORPHA:46059 |
Mosaic Trisomy 9 |
|
Asplenia, Corneal opacity |
ORPHA:99776 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Wolf-Hirschhorn Syndrome |
|
Ataxia, Sclerocornea, Optic atrophy, Megalocornea, Failure to thrive, Retinopathy, Iris coloboma |
ORPHA:280 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cer... |
ORPHA:67036 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Sifrim-Hitz-Weiss Syndrome |
|
Short stature, Flat acetabular roof, Fused cervical vertebrae, Wormian bones, Bifid uvula |
OMIM:617159 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Dysplastic corpus callosum, Exaggerated startle response |
OMIM:617281 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response |
OMIM:615574 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Small for gestational age, Ectopia pupillae, Failure to thrive,... |
OMIM:194190 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... |
OMIM:259900 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Anorexia, Ectopia lentis, Opti... |
ORPHA:394 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, High, narrow palate, Large fontanelles, Hip dislocation, Dysphagia, Gen... |
ORPHA:198 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Cleft palate,... |
OMIM:309350 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase ... |
ORPHA:2785 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:274000 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Fryns Syndrome |
|
Aganglionic megacolon, Corneal opacity |
ORPHA:2059 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration... |
OMIM:617099 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Optic disc hypoplasia, Hypertriglyceridemia, Corneal opacity, Ataxia, Confusion, Tremor... |
ORPHA:3455 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Oculoectodermal Syndrome |
|
Hyperactivity, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corneal stro... |
OMIM:600268 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Protruding tongue, Persistence of primary t... |
OMIM:610253 |
Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Short stature, Premature osteoarthritis, Large fontanelles, Umbilical h... |
OMIM:611962 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Short philtrum, High palate, Choanal stenosis, Wide ant... |
ORPHA:798 |
Wolfram Syndrome |
|
Ataxia, Optic atrophy, Dementia, Abnormal autonomic nervous system physiology, Polydipsia, Anemia |
ORPHA:3463 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Lateral ventricle dilatation, Exaggerated startle response, Dysphagia |
OMIM:618367 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Depressed nasal bridge, Micrognathia, Large fontanelles, High palate, Long philtrum, ... |
OMIM:261515 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Small for gestational age, Sclerocornea, Failure to thrive |
OMIM:619869 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia |
ORPHA:75565 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Saethre-Chotzen Syndrome |
|
Short stature, Narrow nose, Hypoplasia of the maxilla, Long nose, Cleft of chin, Narrow palate, C... |
OMIM:101400 |
Coffin-Siris Syndrome 12 |
|
Joint laxity, Short stature, Prominent nasal bridge, Anteverted nares, Micrognathia, Depressed na... |
OMIM:619325 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Pmm2-Cdg |
|
Failure to thrive, Cataract, Ataxia, Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired... |
ORPHA:79318 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Cataract, Small for gestational age, Aggressive behavior, Obesity, Anisocoria, Att... |
OMIM:613406 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive protein conc... |
OMIM:612852 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma, Optic nerve dysplasia, Retinal dysplasia, Elevated circulati... |
OMIM:615287 |
African Trypanosomiasis |
|
Papilledema, Akinesia, Aggressive behavior, Keratitis, Splenomegaly, Tremor, Hepatosplenomegaly, ... |
ORPHA:3385 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Mowat-Wilson Syndrome |
|
Cataract, Aganglionic megacolon, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris colo... |
OMIM:235730 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... |
OMIM:158310 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Curry-Jones Syndrome |
|
Lip pit, Unicoronal synostosis, Lipomyelomeningocele, Wormian bones, Occipital meningocele, Bicor... |
OMIM:601707 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Primary Hyperoxaluria |
|
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Optic atrophy, Failure to thrive,... |
ORPHA:416 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... |
ORPHA:508498 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Confusion |
ORPHA:97292 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Optic atrophy |
OMIM:201180 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Wormian bones, Joint... |
OMIM:617821 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Cataract, Corneal opacity |
ORPHA:1052 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Abdominal obesity, Azotemia |
OMIM:619321 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short stature, Elbow contracture, Delayed closure of the anterior fon... |
OMIM:304120 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Anorexia, Confusi... |
ORPHA:99827 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Depressed nasal ridge, Large fontanelles, Wide nasal bridge, Exencephaly, Long phi... |
ORPHA:2211 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Yunis-Varon Syndrome |
|
Narrow nasal base, Wide cranial sutures, Absent sternal ossification, Short stature, Anteverted n... |
ORPHA:3472 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Joint subluxation, I... |
ORPHA:90349 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Optic atrophy, Microcornea, Peters anomaly, Iris coloboma, Anterior ch... |
ORPHA:709 |
Pineoblastoma |
|
Papilledema, Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Retin... |
ORPHA:251909 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia |
OMIM:612301 |
Diamond-Blackfan Anemia 1 |
|
Short stature, Micrognathia, Cleft upper lip, Depressed nasal ridge, Spina bifida occulta, Cleft ... |
OMIM:105650 |
Kindler Epidermolysis Bullosa |
|
Anemia, Conjunctivitis, Dysphagia, Corneal opacity |
ORPHA:2908 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy |
OMIM:260920 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re... |
ORPHA:3380 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Inappropriate laughter, Attention deficit hyperactivity disorder, Abnormal social behavior, Agene... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Inappropriate laughter, Attention deficit hyperactivity disorder, Abnormal social behavior, Agene... |
ORPHA:363958 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Mucopolysaccharidosis, Type Vi |
|
Splenomegaly, Corneal opacity |
OMIM:253200 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Corneal opacity, Keratitis, Corneal erosion, Uveitis, Astigmatism, Conjunc... |
ORPHA:2273 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy |
ORPHA:391665 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Microretrognathia, Thin upper lip vermilion, Joint laxity, Generalized joint l... |
OMIM:601776 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Depressed nasal ridge, Poorly o... |
ORPHA:3003 |
Plague |
|
Anorexia, Splenomegaly, Unsteady gait, Depression, Conjunctival hyperemia, Delirium, Mydriasis |
ORPHA:707 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Splenomegaly, Tip-toe gait, Opacification of the corneal str... |
OMIM:252500 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Genu recurvatum, Postnatal growth retardation, Hip dislocation, Wormian... |
ORPHA:90348 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Short stature, Anteverted nares, Tracheomalacia, Micrognathia, Downturn... |
ORPHA:444077 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Opacification of the corneal stroma |
OMIM:253000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... |
OMIM:259770 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... |
ORPHA:397715 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Pituitary dwarfism, Depressed nasal bridge, Delayed proximal femoral ... |
ORPHA:226307 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Sclerocornea |
OMIM:300952 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Short stature, Abnormality of the dentition, Thick lower lip vermilion, Self-injurio... |
ORPHA:261652 |
1P36 Deletion Syndrome |
|
Short stature, Camptodactyly of finger, Depressed nasal bridge, Joint stiffness, Narrow mouth, Po... |
ORPHA:1606 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia |
ORPHA:293173 |
Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
Trichothiodystrophy |
|
Intention tremor, Partial agenesis of the corpus callosum, Reduced social reciprocity, Gait ataxia |
ORPHA:33364 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
Digeorge Syndrome |
|
Sclerocornea, Thrombocytopenia, Splenomegaly, Obesity, Hypoplasia of the thymus, Hypocalcemia, At... |
OMIM:188400 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Tip-toe gait, Astigmatism, Self-mutilation |
OMIM:619268 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Ramon Syndrome |
|
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Decreased body weight |
OMIM:266270 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... |
ORPHA:449395 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Short stature, Spina bifida |
ORPHA:991 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Mend Syndrome |
|
Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Hypokalemia, Cognitive impairment, Abnormal pupil morphology |
ORPHA:286 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Disproportionate short stature, Meningocele |
ORPHA:2879 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Nail-Patella Syndrome |
|
Short stature, Spina bifida |
OMIM:161200 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Stuve-Wiedemann Syndrome 1 |
|
Abnormal autonomic nervous system physiology, Opacification of the corneal stroma, Dysphagia |
OMIM:601559 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the dentition, Elbow dislocation, Osteoarthritis, Abnormality o... |
ORPHA:285 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Failure to thrive, Corneal opacity |
OMIM:608670 |
Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Opacification of the corneal stroma |
OMIM:231005 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
Hutchinson-Gilford Progeria Syndrome |
|
Corneal opacity, Weight loss, Shuffling gait, Severe failure to thrive, Corneal ulceration |
ORPHA:740 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Micrognathia, Short philtrum, High palate, Decreased skull ossificati... |
OMIM:216340 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology |
ORPHA:91387 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Megalocornea, Small for gestational age, Ectopia lentis |
ORPHA:284979 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
Microphthalmia, Syndromic 6 |
|
Retinal dystrophy, Sclerocornea, Microcornea, Coloboma, Failure to thrive |
OMIM:607932 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Jacobsen Syndrome |
|
Growth delay, Intrauterine growth retardation, Short stature, Spina bifida |
ORPHA:2308 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Iris atrophy, Decreased circulating cortisol level |
OMIM:620305 |
22Q11.2 Deletion Syndrome |
|
Short stature, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical he... |
ORPHA:567 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, ... |
OMIM:256520 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Short stature |
OMIM:277170 |
Fanconi Anemia |
|
Short stature, Spina bifida, Hydrocephalus, Growth delay, Umbilical hernia, Intrauterine growth r... |
ORPHA:84 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... |
OMIM:263650 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Campto... |
OMIM:601803 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma |
OMIM:268300 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat... |
OMIM:114290 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Inability to walk, Dysphagia, Dystonia, Stereotyp... |
ORPHA:438213 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Fryns Syndrome |
|
Polysplenia, Aganglionic megacolon, Opacification of the corneal stroma, Large for gestational age |
OMIM:229850 |
Aicardi Syndrome |
|
Postnatal growth retardation, Spina bifida |
OMIM:304050 |
Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent urachus, Intrauterine... |
OMIM:192350 |
Medulloblastoma |
|
Delayed cranial suture closure |
ORPHA:616 |
Arima Syndrome |
|
Growth delay, Occipital meningocele |
OMIM:243910 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida |
OMIM:619480 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Irritability, Agenesis of corpus callosum, Depression |
ORPHA:96147 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions... |
OMIM:308205 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Disproportionate short stature |
OMIM:276820 |