| Thyroid Dyshormonogenesis 3 |
|
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma |
OMIM:188550 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone |
OMIM:188570 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Non-medullary thyroid carcinoma |
OMIM:616534 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
| Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
| Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter |
OMIM:180295 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter |
ORPHA:319487 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Goiter, Papillary thyroid carcinoma |
ORPHA:97290 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, E... |
OMIM:274300 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis, Cognitive impairment |
OMIM:238700 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T3, Graves disease, Goiter |
OMIM:275000 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria, Rickets, Corneal crystals |
OMIM:219900 |
| Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter |
OMIM:255900 |
| Bangstad Syndrome |
|
Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
OMIM:210740 |
| Glutaric Aciduria Iii |
|
Goiter, Hyperthyroidism |
OMIM:231690 |
| Hyperthyroidism, Nonautoimmune |
|
Goiter, Thyroid hyperplasia, Hyperthyroidism |
OMIM:609152 |
| Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Abnormal cornea morphology, Aminoaciduria, Cognitive impairment, Glyco... |
ORPHA:411629 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Goiter, Hyperthyroidism |
OMIM:613239 |
| Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Hearing impairment, Ribbonlike corneal degeneration |
OMIM:121450 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
| Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia |
OMIM:225250 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Thyroid Lymphoma |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism |
ORPHA:97285 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Permanent Congenital Hypothyroidism |
|
Thyroid dysgenesis, Goiter, Hypothyroidism |
ORPHA:226292 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
| Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Goiter, Thyroid carcinoma |
ORPHA:705 |
| Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, EEG abnormality, Hyperglycinuria, Hyperactivity, Aggressive behavior |
OMIM:239500 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... |
OMIM:275200 |
| Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... |
ORPHA:1332 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hyperthyroidism |
OMIM:188580 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goi... |
ORPHA:99819 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goi... |
ORPHA:424 |
| Maffucci Syndrome |
|
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Neoplasm of the adrenal cortex, Neoplas... |
ORPHA:163634 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Abnormal cornea morphology, Chronic kidney disease, Aminoaciduria, Glyco... |
ORPHA:411634 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism |
OMIM:301035 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration, Optic... |
OMIM:252650 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Cystinosis, Nephropathic |
|
Nephrolithiasis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Aminoaciduria, Polyuria, R... |
OMIM:219800 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:226313 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Increased urinary disaccharide excretion, Opacification of... |
OMIM:271630 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Goiter, Anaplastic thyroid carcinoma |
ORPHA:142 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal ulceration, Corneal scarring, Osteomyelitis, Hyperactivity, Abnormal autonomic... |
OMIM:256800 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis |
ORPHA:83601 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hyperactivity, Increased urinary disaccharide excretion, Aggr... |
OMIM:248510 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... |
OMIM:171400 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Ankle flexion contracture, Hyperactivity, Irritability |
OMIM:616657 |
| Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Opacification of the corneal stroma, Proteinuria |
OMIM:245900 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Testicu... |
ORPHA:457059 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Osteopenia, Hyperactivity |
OMIM:608747 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Cowden Syndrome 7 |
|
Goiter, Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ |
OMIM:616858 |
| Saccharopinuria |
|
Citrullinuria, Histidinuria, EEG abnormality, Hyperlysinuria, Saccharopinuria |
OMIM:268700 |
| Morm Syndrome |
|
Hyperactivity, Micropenis, Abnormality of the kidney, Cataract, Aggressive behavior |
ORPHA:75858 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Opacification of the corneal stroma, Generalized bone demineralization, Prote... |
OMIM:215250 |
| Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Cowden Syndrome 5 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid... |
OMIM:615108 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
| Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma, Attention deficit hyperactivity disorder |
ORPHA:461 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Hypsarrhythmia |
OMIM:619970 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... |
ORPHA:90674 |
| Cowden Syndrome 6 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Thyroid adenoma, Thyroid... |
OMIM:615109 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Increased circulating free T3, Increased circulating T4 concentration, Goiter, Pu... |
ORPHA:525731 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Self-injurious behavior, Craniosynostosis, Cognitive impairment, Opacification of ... |
OMIM:601853 |
| Norrie Disease |
|
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacifi... |
OMIM:310600 |
| Phenylketonuria |
|
Hyperactivity, Blue irides, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, C... |
OMIM:261600 |
| Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Recurrent urinary tract infections, Limited elbow ext... |
OMIM:244600 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Congenital Hypothyroidism |
|
Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, Hypothyroidism, H... |
ORPHA:442 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating thyroid-stimulat... |
OMIM:218700 |
| Carney Complex, Type 1 |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Pheochro... |
OMIM:160980 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... |
ORPHA:99832 |
| Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... |
ORPHA:562 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
| Glycine Encephalopathy |
|
Hyperglycinuria, Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Optic atrophy, Tremor, Aggressive behavior, Elbow flexion contracture |
OMIM:619470 |
| Cowden Syndrome 1 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Goiter, Ovarian carcinoma, Thyro... |
OMIM:158350 |
| Dibasic Amino Aciduria I |
|
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria |
OMIM:222690 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hearing impairment, Corneal arcus |
OMIM:144300 |
| Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
| Winchester Syndrome |
|
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity |
OMIM:277950 |
| Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... |
ORPHA:171673 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
| Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma, Mucopolysacchariduria |
OMIM:252700 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior |
OMIM:300983 |
| Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... |
ORPHA:98818 |
| Mucopolysaccharidosis Type 6 |
|
Joint stiffness, Cognitive impairment, Opacification of the corneal stroma, Mucopolysacchariduria... |
ORPHA:583 |
| Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, Mental deterioration, Aggressive behavior, EEG with focal sharp s... |
ORPHA:2382 |
| Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Tremor, Hyperactivity, Dystonia |
OMIM:615924 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
EEG abnormality, Self-injurious behavior, Hyperactivity, Elevated urinary 4-hydroxybutyric acid, ... |
OMIM:271980 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Cystinuria |
|
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... |
OMIM:220100 |
| Tsh-Secreting Pituitary Adenoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Enlarged pituitary gl... |
ORPHA:91347 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... |
ORPHA:320401 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... |
ORPHA:652 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nephrolithiasis, Self-injurious behavior, Hyperactivity, EEG with generalized epileptiform discha... |
OMIM:619827 |
| Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Sensorineural hearing impairment, Narcolepsy, Resting tremor, Mental deterioration, Head tremor, ... |
ORPHA:314404 |
| Mucolipidosis Type Iii |
|
Joint stiffness, Corneal opacity, Cognitive impairment, Reduced bone mineral density, Craniofacia... |
ORPHA:577 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Hyperactivity, Irritability, Continuous spike and waves during slow sleep,... |
ORPHA:1929 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Sensorineural hearing impairment, Narcolepsy, Memory impairment, Optic atrophy, Dementia |
OMIM:604121 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma, Flexion contracture |
OMIM:614594 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Medullary thyroid carcinoma, Pheochromocytoma, Elevated calcitonin, Nodular goiter, Parathyroid h... |
OMIM:162300 |
| Mucopolysaccharidosis Type 3 |
|
Heparan sulfate excretion in urine, Optic atrophy, Cataract, Mucopolysacchariduria, Joint stiffne... |
ORPHA:581 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Focal EEG discharg... |
ORPHA:3077 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... |
ORPHA:90673 |
| Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter |
ORPHA:276399 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Irritability... |
ORPHA:206443 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Saccharopinuria |
|
Citrullinuria, Cystinuria, Cognitive impairment, Mental deterioration, Tremor, Hyperlysinuria |
ORPHA:3124 |
| Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Opacification of the corneal stroma, Renal dysplasia, Optic nerve dysplasia, Renal cy... |
OMIM:615287 |
| Hurler Syndrome |
|
Joint stiffness, Corneal opacity, Flexion contracture, Calvarial hyperostosis, Opacification of t... |
OMIM:607014 |
| Ophthalmomandibulomelic Dysplasia |
|
Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Abnormal helix morphology, Joint contracture of the hand, Aminoaciduria, Opacification of the cor... |
OMIM:214110 |
| Pten Hamartoma Tumor Syndrome |
|
Multinodular goiter, Thyroid carcinoma, Thyroid adenoma |
ORPHA:306498 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Abnormal helix morphology, Opacification of the corneal stroma, Optic nerve dysplasia, Camptodact... |
OMIM:614866 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbo... |
OMIM:604278 |
| X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia |
ORPHA:382 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Bilateral renal atrophy, Metatarsal osteolysis, Osteopenia, Carpal osteolysis, P... |
OMIM:166300 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Facial diplegia, Sensorineural hearing impairment, Aminoaciduria, Methylmalonic aciduria, Athetos... |
OMIM:612073 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Sensorineural hearing impairment, Axenfeld anomaly, Posterior embryotoxon, Opacification of the c... |
OMIM:612582 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
EEG abnormality, Hyperactivity, Self-injurious behavior, Tremor, Low-set ears |
OMIM:618718 |
| Mucolipidosis Iii Gamma |
|
Joint stiffness, Opacification of the corneal stroma |
OMIM:252605 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Polycystic ovaries, Premature thelarche, Type I diabetes mellitus, Nodular goiter |
ORPHA:371428 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia |
OMIM:612716 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
| Carpenter Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Joint... |
OMIM:201000 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Sensorineural hearing impairment, Corneal opacity, Posterior embryotoxon, Hematuria, Optic atroph... |
ORPHA:1473 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharg... |
ORPHA:88616 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
| Dent Disease 2 |
|
Chronic kidney disease, Aminoaciduria, Cognitive impairment, Low-molecular-weight proteinuria, Hy... |
OMIM:300555 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis, Aminoaciduria |
OMIM:204730 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Mucopolysaccharidosis, Type Ivb |
|
Opacification of the corneal stroma, Osteoporosis, Joint laxity, Hearing impairment, Keratan sulf... |
OMIM:253010 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Aminoaciduria |
ORPHA:2278 |
| Dent Disease |
|
Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Cataract, Proteinuria, Proximal tubulop... |
ORPHA:1652 |
| Dent Disease 1 |
|
Renal phosphate wasting, Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabec... |
OMIM:300009 |
| Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Osteopenia, Opacification of the corneal stroma, Astigmatism, Focal segmental... |
OMIM:242900 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Thyroid dysgenesis, Compensated hypothyroid... |
ORPHA:209905 |
| Brachymesomelia-Renal Syndrome |
|
Low-set ears, Opacification of the corneal stroma, Renal insufficiency |
OMIM:113470 |
| Mucopolysaccharidosis, Type Iva |
|
Chondroitin sulfate excretion in urine, Opacification of the corneal stroma, Osteoporosis, Joint ... |
OMIM:253000 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Action tremor, Flexion contracture, Abnormal autonomic nervous ... |
ORPHA:99027 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia |
OMIM:617113 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Opacification of the corneal stroma |
OMIM:601356 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Sensorineural hearing impairment, Abnormal helix morphology, Aminoaciduria, Hypospadias, Opacific... |
OMIM:214100 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Joint hypermobility, Abnormal cortical bone morphology, Poste... |
OMIM:300831 |
| Thyroid Ectopia |
|
Hypothyroidism, Abnormality of the thyroid gland, Ectopic thyroid |
ORPHA:95712 |
| Pseudo-Torch Syndrome 1 |
|
Opacification of the corneal stroma, Cataract, Renal insufficiency, Low-set ears, Dystonia |
OMIM:251290 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Hyperactivity, Heparan sulfate excretion in urine, Dense calvaria, Progressive n... |
OMIM:252920 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Proximal ... |
OMIM:613388 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Joint hypermobility, Athetosis, Cataract, Macrotia, Low-set ears, Corneal arcus |
OMIM:219150 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Hearin... |
OMIM:601499 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypothyroidism, Goiter, Hyperthyroidism, Diabetes mellitus |
ORPHA:254892 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Unilateral renal agenesis, Multicystic kidney dysplasia, Opacification of the corneal ... |
OMIM:308205 |
| Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Joint contracture of the hand, Diffuse mesangial sclerosis, Opacification of ... |
OMIM:251300 |
| Sialidosis Type 2 |
|
Corneal opacity, Flexion contracture, Nephropathy, Osteoporosis, Tremor, Hearing impairment |
ORPHA:87876 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Hyperactivity, EEG with spike-wave complexes, EEG with general... |
ORPHA:168491 |
| Familial Adenomatous Polyposis |
|
Thyroiditis, Pituitary adenoma, Abnormality of the thyroid gland, Neoplasm of the adrenal gland, ... |
ORPHA:733 |
| Xeroderma Pigmentosum |
|
Sensorineural hearing impairment, Keratitis, EEG abnormality, Aminoaciduria, Cognitive impairment... |
ORPHA:910 |
| Cln5 Disease |
|
EEG with focal spikes, Hyperactivity, EEG with spike-wave complexes, Mental deterioration, Anxiet... |
ORPHA:228360 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Happy demeanor, EEG abnormality, Hyperactivity |
ORPHA:411515 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... |
OMIM:301013 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Self-biting, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
| Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Osteomalacia, Renal insufficiency, Proteinu... |
OMIM:134600 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia |
OMIM:615541 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, EEG abnormality, Flexion contracture, Micropenis, Hypospadias, Developmental cat... |
OMIM:618815 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Hip contracture, Abnormal pinna morphology, Ivory epiphyses of ... |
OMIM:216400 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ivory epiphyses of the phalanges of ... |
OMIM:133540 |
| Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Band keratopathy, Aminoaciduria, Reduced bone mineral density, Hyperuricosuria, ... |
ORPHA:47159 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Joint laxity, Aggressive behavior, Hyperactivity |
ORPHA:457260 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Band keratopathy, Cognitive impairment, Micropenis, Osteopenia, Hypo... |
ORPHA:2959 |
| Tangier Disease |
|
Facial diplegia, Opacification of the corneal stroma |
OMIM:205400 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Corneal opacity, Metatarsal osteolysis, Peripheral opacification of the cornea, ... |
OMIM:259600 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, Hearing impairment, Aminoaciduria, Irritability |
OMIM:609560 |
| Branchiootorenal Syndrome 1 |
|
Euthyroid goiter |
OMIM:113650 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Band keratopathy, Rheumatoid arthritis, Anterior chamber synechiae, Cataract, Kne... |
ORPHA:85410 |
| Sialidosis Type 1 |
|
Sensorineural hearing impairment, Corneal opacity, EEG abnormality, Decreased nerve conduction ve... |
ORPHA:812 |
| Galactosemia Iii |
|
Sensorineural hearing impairment, Aminoaciduria, Galactosuria |
OMIM:230350 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal... |
OMIM:109120 |
| Dicarboxylic Aminoaciduria |
|
Nephrolithiasis, Aminoaciduria, Aspartic aciduria |
OMIM:222730 |
| Multiple Endocrine Neoplasia Type 2 |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Elevated circulating parathyroid hormone level,... |
ORPHA:653 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism |
OMIM:619927 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Generalized aminoaciduria |
ORPHA:882 |
| Juvenile Huntington Disease |
|
Hyperactivity, Dystonia, Irritability, Dementia |
ORPHA:248111 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal emotion/af... |
ORPHA:1942 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma |
OMIM:169550 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Opacification of the corneal stroma, Limitation of joint mobility |
OMIM:313400 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Hyperactivity, Blue irides, Self-mutilation |
OMIM:615516 |
| Galactosialidosis |
|
Hearing impairment, Opacification of the corneal stroma, Conjunctival telangiectasia |
OMIM:256540 |
| Cowden Syndrome |
|
Abnormality of the thyroid gland, Follicular thyroid carcinoma, Adenoma sebaceum, Goiter, Enlarge... |
ORPHA:201 |
| Aniridia 1 |
|
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... |
OMIM:106210 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... |
ORPHA:101085 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
| Galactose Epimerase Deficiency |
|
Cataract, Aminoaciduria |
ORPHA:79238 |
| Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... |
ORPHA:909 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Hematuria,... |
OMIM:158310 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Protruding ear, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Optic atrophy, Cat... |
OMIM:152950 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Aminoaciduria |
ORPHA:417 |
| Adult Krabbe Disease |
|
EEG abnormality, Mental deterioration, Progressive neurologic deterioration, Prolonged brainstem ... |
ORPHA:206448 |
| Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Renal cortical cysts, Micropenis, Camptodactyly of finger, Knee joint ... |
ORPHA:1692 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Mucolipidosis Iii Alpha/Beta |
|
Hyperopic astigmatism, Opacification of the corneal stroma, Craniosynostosis |
OMIM:252600 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Low-set ears, Opacification of the corneal stroma, Cataract |
OMIM:211370 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased circulating ... |
OMIM:146510 |
| Bietti Crystalline Dystrophy |
|
Crystalline corneal dystrophy |
ORPHA:41751 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Skin-picking, Hyperactivity, Progressive language deterioration, Self-muti... |
ORPHA:163681 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Thyroid agenesis, Crypto... |
ORPHA:3047 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... |
OMIM:201050 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, EEG abnormality, Optic nerve hypoplasia, Pseudopapilledema, Aplasia/Hypoplasia o... |
ORPHA:137902 |
| Farber Disease |
|
Corneal opacity, Flexion contracture, Opacification of the corneal stroma, Osteoporosis, Arthriti... |
ORPHA:333 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... |
ORPHA:226307 |
| Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Megalocornea, Synostosis of carpal bones, Abnormality o... |
ORPHA:2741 |
| Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Corneal opacity, Cataract |
ORPHA:90654 |
| Alpha-Mannosidosis, Adult Form |
|
Corneal opacity, Oligosacchariduria, Osteopenia, Mixed hearing impairment, Anxiety, Optic disc pa... |
ORPHA:309288 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Recurrent fractures, Flexion contracture of finger, Joint contracture of the han... |
OMIM:193700 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Progressive neurologic deterioration, Proximal tubulopathy |
OMIM:612075 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Oculoectodermal Syndrome |
|
Hyperactivity, Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism, Bla... |
OMIM:600268 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Hyperactivity, Dystonia, Aggressive behavior |
ORPHA:500180 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Opacification of the corneal stroma, Cataract |
ORPHA:3453 |
| Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Abnormal autonomic nervous system physiology, Opacification of the corneal stroma, ... |
OMIM:601559 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Irritability, Mental deterioration, Progressiv... |
ORPHA:206436 |
| Pseudohypoparathyroidism Type 1A |
|
Sensorineural hearing impairment, Band keratopathy, Increased bone mineral density, Laryngeal dys... |
ORPHA:79443 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Sensorineural hearing impairment, Corneal opacity, Irregular astigmatism, Corneal stromal edema, ... |
ORPHA:293603 |
| Multiple Sulfatase Deficiency |
|
Sensorineural hearing impairment, Joint stiffness, Corneal opacity, Optic atrophy, Cataract, Muco... |
ORPHA:585 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Flexion contracture, Mental deterior... |
ORPHA:35069 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
| Tay-Sachs Disease |
|
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Lathosterolosis |
|
Hypoplasia of penis, Opacification of the corneal stroma, Microcornea, Horseshoe kidney, Cataract... |
ORPHA:46059 |
| Mucopolysaccharidosis, Type Iiic |
|
Joint stiffness, Hyperactivity, Heparan sulfate excretion in urine, Dense calvaria, Motor deterio... |
OMIM:252930 |
| X-Linked Adrenoleukodystrophy |
|
Urinary bladder sphincter dysfunction, Hyperactivity, Cognitive impairment, Progressive hearing i... |
ORPHA:43 |
| Mucolipidosis Ii Alpha/Beta |
|
Craniosynostosis, Osteopenia, Megalocornea, Opacification of the corneal stroma, Camptodactyly, P... |
OMIM:252500 |
| Fragile X Syndrome |
|
Hyperactivity, Joint laxity, Self-biting, Macrotia |
OMIM:300624 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ectopia lentis, Aminoaciduria |
ORPHA:833 |
| Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Hearing impairment, EEG abnormality, Aminoaciduria |
OMIM:614946 |
| Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Cataract, Abnormal auditory evoked potentials |
OMIM:619260 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Corneal opacity, Anxiety, Nephroblastoma, Cataract, Aggressive behavior, Proteinuria, Emotional l... |
OMIM:612469 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Self-mutilation, Optic nerve hypoplasia, Hypospadias, Astigmatism, Hyperopic astig... |
ORPHA:363686 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... |
ORPHA:1215 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Aminoaciduria |
OMIM:250620 |
| Cockayne Syndrome |
|
Corneal ulceration, Band keratopathy, Abnormal renal physiology, Mental deterioration, Optic atro... |
ORPHA:191 |
| Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Finger joint hypermobility, Anxiety, Limited elbow extension, Attention deficit hy... |
OMIM:301069 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Abnormality of peripheral nerve conduction, Optic atrophy, T... |
ORPHA:90321 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormal preputium morphology, Abnormal renal tubule morphology, Camptodactyly of finger, Keratoc... |
ORPHA:2907 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability |
ORPHA:3198 |
| Niemann-Pick Disease Type C |
|
Narcolepsy, Apathy, Axial dystonia, Dementia, Cognitive impairment, Intention tremor, Mental dete... |
ORPHA:646 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlarged lacrimal gl... |
ORPHA:79078 |
| Cystinosis |
|
Renal tubular dysfunction, Corneal opacity, Aminoaciduria, Nephropathy, Proteinuria, Renal insuff... |
ORPHA:213 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Self-mutilation, Joint hyperflexibility, Athetosis, Dystonia |
ORPHA:52503 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Low-set ears, Opacification of the corneal stroma, Microcornea |
OMIM:271960 |
| Lathosterolosis |
|
Conductive hearing impairment, Opacification of the corneal stroma, Osteoporosis, Pathologic frac... |
OMIM:607330 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, St... |
OMIM:618913 |
| Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Nephrolithiasis, Aminoaciduria, Decreased glomerular filtration... |
ORPHA:18 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Corneal opacity, Attention deficit hyperactivity disorder, Renal insuf... |
ORPHA:281090 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
| Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
| Scheie Syndrome |
|
Sensorineural hearing impairment, Joint stiffness, Corneal opacity, Mucopolysacchariduria, Limita... |
ORPHA:93474 |
| Methionine Malabsorption Syndrome |
|
Blue irides, Aminoaciduria |
OMIM:250900 |
| Gracile Syndrome |
|
Aminoaciduria |
OMIM:603358 |
| Wilson Disease |
|
Renal tubular dysfunction, Nephrolithiasis, Decreased nerve conduction velocity, Hand tremor, Ami... |
OMIM:277900 |
| Zellweger Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, EEG abnormality, Cognitive impairment, Hypospa... |
ORPHA:912 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, EEG abnormality, Hyperactivity, Limitation of movement at ankles, EEG with abnorm... |
ORPHA:98794 |
| Pitt-Hopkins-Like Syndrome 1 |
|
EEG abnormality, Hyperactivity, Aggressive behavior, Progressive language deterioration |
OMIM:610042 |
| Dermotrichic Syndrome |
|
Aminoaciduria, EEG abnormality, Aganglionic megacolon, Macrotia |
ORPHA:99688 |
| Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Hyperactivity, Heparan sulfate excretion in urine, Dense calvaria, Hearing impai... |
OMIM:252900 |
| Bartsocas-Papas Syndrome 1 |
|
Corneal ulceration, Flexion contracture, Microtia, Micropenis, Cupped ear, Popliteal pterygium, O... |
OMIM:263650 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Osteopenia, Optic atrophy, Renal hypoplasia, Cataract, Hydronephrosis |
OMIM:617913 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Flexion contracture, Camptodactyly, Renal hypoplasia, 3-Methylglutaconic aciduria,... |
OMIM:604273 |
| Galactosemia I |
|
Increased level of galactitol in urine, Aminoaciduria, Cataract, Galactosuria, Albuminuria |
OMIM:230400 |
| Hepatic Lipase Deficiency |
|
Corneal arcus |
OMIM:614025 |
| Phace Association |
|
Congenital hypothyroidism, Lingual thyroid |
OMIM:606519 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia |
ORPHA:3240 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Methylmalonic aciduria, Decreased nerve conduction velocity, Am... |
ORPHA:1933 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
| Gyrate Atrophy Of Choroid And Retina |
|
Subcapsular cataract, Hearing impairment, Cataract, Aminoaciduria |
ORPHA:414 |
| Lcat Deficiency |
|
Corneal opacity, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Acute ki... |
ORPHA:650 |
| Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave complexes, O... |
OMIM:619913 |
| Legius Syndrome |
|
Nephrolithiasis, Hyperactivity, Male urethral meatus stenosis, Cognitive impairment, Vestibular s... |
ORPHA:137605 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| H Syndrome |
|
Recurrent fractures, Micropenis, Abnormality of the kidney, Camptodactyly, Enlarged kidney, Osteo... |
ORPHA:168569 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
| Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria |
OMIM:229100 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Proteinuria, Arthrogryposis multi... |
OMIM:613404 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Apathy, Exaggerated startle response, Dementia |
OMIM:272750 |
| Blau Syndrome |
|
Band keratopathy, Iritis, Camptodactyly of finger, Arthritis, Abnormal cranial nerve morphology, ... |
OMIM:186580 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Sensorineural hearing impairment, Hyperactivity, Nocturia, Urinary urgency, Urinary hesitancy, Ur... |
OMIM:609727 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Cognitive impairment, Reduced bone mineral density, Mucopolysacchariduria, Heari... |
ORPHA:582 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Micropenis, Macrotia |
OMIM:618504 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... |
ORPHA:529799 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lacticaciduria, Renal insufficiency, Aminoaciduria |
OMIM:619386 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... |
ORPHA:529808 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Optic atrophy, Renal Fanconi syndrome, Prot... |
ORPHA:436271 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Joint ... |
ORPHA:449291 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hypophosphatemic rickets, Chronic kidney disease, Bicarbonate-wasting re... |
ORPHA:3337 |
| Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Rickets |
OMIM:616026 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
| Alagille Syndrome 1 |
|
Band keratopathy, Renal tubular acidosis, Abnormal anterior chamber morphology, Axenfeld anomaly,... |
OMIM:118450 |
| Hyperlysinemia |
|
Argininuria, Hyperactivity, EEG with spike-wave complexes, Opisthotonus, Craniosynostosis, Cystin... |
ORPHA:2203 |
| Mend Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
| Fryns Syndrome |
|
Abnormal helix morphology, Joint contracture of the hand, Renal agenesis, Hypospadias, Opacificat... |
OMIM:229850 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response, Flexion contracture |
OMIM:609541 |
| Al-Gazali Syndrome |
|
Recurrent fractures, Corneal opacity, Proximal radio-ulnar synostosis, Osteopenia, Wrist flexion ... |
OMIM:609465 |
| Angelman Syndrome |
|
Happy demeanor, EEG abnormality, Hyperactivity, Self-injurious behavior, Anxiety, Astigmatism, Op... |
ORPHA:72 |
| Intermediate Uveitis |
|
Posterior synechiae of the anterior chamber, Tubulointerstitial nephritis, Band keratopathy, Cata... |
ORPHA:279914 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Multiple joint contractures, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Tinnitus, Hearing impairment, Opacification of the corneal stroma |
ORPHA:79280 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
| Knobloch Syndrome 1 |
|
Band keratopathy, Lens subluxation, Renal duplication, Bifid ureter, Optic disc pallor, Duplicate... |
OMIM:267750 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
