Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Alzheimer Disease 10 |
|
Memory impairment, Dementia |
OMIM:609636 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Cognitive impairment, Dementia |
OMIM:618564 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Increased adipose tissue, Polyphagia |
ORPHA:71529 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Increased adipose tissue, Decreased response to growth hormone stimulation test... |
ORPHA:71526 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy, Tremor |
OMIM:165300 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Mate... |
ORPHA:324575 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... |
ORPHA:276580 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:144300 |
Optic Atrophy 2 |
|
Tremor, Optic atrophy |
OMIM:311050 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Type I diabetes mellitus, ... |
ORPHA:276575 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Lipodystrophy, Decreased serum leptin, Decrease... |
OMIM:615238 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemic hypoglycemia, Agitation, Di... |
ORPHA:276556 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Laryngeal dystonia, Hypocalcemi... |
ORPHA:36913 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased... |
ORPHA:79085 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Retinal calcification, Transient hypophosphatemia, Small for gestational age, ... |
OMIM:127000 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Hypocalcemia, Obesity |
OMIM:612462 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Linear Verrucous Nevus Syndrome |
|
Retinopathy, Sparse scalp hair, Hypophosphatemia, Iris coloboma, Abnormal cornea morphology, Cata... |
ORPHA:2611 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi... |
ORPHA:435651 |
Intermediate Uveitis |
|
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... |
ORPHA:279914 |
Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Optic atrophy, Developmental cataract |
ORPHA:2572 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Hyperphosphatemia, Hypocalcemic tetany, Cataract, Obesity |
OMIM:103580 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Optic atrophy, Posterior synechiae of the anterior chamber, Developmental ca... |
OMIM:613154 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Attenuation of retinal blood vessels, Optic atrophy |
OMIM:165510 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Obesity, Hypocalcemia |
OMIM:603233 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Hirsutism, Generalized lipodystrophy, Hyperch... |
OMIM:612526 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Retinopathy, Angioid streaks of the fundus, Retinal degeneratio... |
OMIM:239000 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Glucose intolerance |
ORPHA:369873 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... |
OMIM:615703 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia |
OMIM:617885 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits, Enamel hypoplasia, Hyperphosphatemia, Angioid streaks of... |
OMIM:211900 |
Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Peripheral axonal neuropathy, Hypercholesterolemia |
OMIM:607250 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Laryngeal dystonia, Hypocalcemic seizures, Hy... |
ORPHA:94090 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia, Increased body weight |
ORPHA:94086 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... |
OMIM:616000 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... |
ORPHA:209959 |
Pseudohypoparathyroidism Type 1B |
|
Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, ... |
ORPHA:94089 |
Idiopathic Anterior Uveitis |
|
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... |
ORPHA:280914 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... |
OMIM:614963 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Obesity, Hypocalcemia |
ORPHA:79445 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Astigmatism, Corneal opacity, Hypocalcemia, Abnormal dental enamel morphology |
ORPHA:2323 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Polyphagia, Hypogonadism |
OMIM:614962 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulatin... |
OMIM:620058 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Retinal calcification, Developmental cataract, Hypocalcem... |
ORPHA:93325 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... |
ORPHA:97279 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... |
OMIM:610256 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio |
OMIM:617272 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration |
OMIM:614025 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... |
ORPHA:1473 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Truncal obesity, Fine hair, Hypercholesterolemia |
ORPHA:181393 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... |
OMIM:604393 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Hyperphosphatemia, Optic atrophy, Writer's cramp, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Hyperphosphatemia, Blue irides, Optic atrophy |
OMIM:101800 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Tremor, Dysto... |
OMIM:208920 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Small for gestational age, Failure to... |
ORPHA:79237 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Type II diabetes melli... |
ORPHA:254516 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Eales Disease |
|
Iris neovascularization, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, V... |
ORPHA:40923 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... |
OMIM:251270 |
Calciphylaxis |
|
Hyperphosphatemia, Cellulitis |
ORPHA:280062 |
Pseudohypoparathyroidism Type 1C |
|
Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, ... |
ORPHA:79444 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor |
OMIM:616171 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
Striatonigral Degeneration, Infantile |
|
Failure to thrive, Choreoathetosis, Dystonia, Optic atrophy |
OMIM:271930 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract |
OMIM:204200 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Peripheral Cone Dystrophy |
|
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy |
OMIM:609021 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Postural tremor, Cataract, Optic atrophy, Abnormal circulating cholesterol concentration |
OMIM:270800 |
Pseudohypoparathyroidism Type 1A |
|
Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Choreoathe... |
ORPHA:79443 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... |
OMIM:608553 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... |
OMIM:300476 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Abnormal autonomic nervous system physiology, Oculogyric crisis... |
ORPHA:94093 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Flexion contracture... |
OMIM:609260 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Woolly Hair |
|
Abnormal pupil morphology, Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow,... |
ORPHA:170 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Alopecia, Hyperphosphatemia, Obesity, Abnormal hair quantity |
ORPHA:457059 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Choreoathetosis, Elevated circulating alpha-fetoprotein concentration, Elevated ... |
ORPHA:64753 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Postural tremor, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves... |
OMIM:275000 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:608594 |
Smith-Magenis Syndrome |
|
Synophrys, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Coloboma, Small for gestational age, Failure to thrive, Cataract, Abnorm... |
ORPHA:1617 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:269700 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the macula, Hypopigmentation of h... |
ORPHA:33445 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... |
ORPHA:137902 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Mandibuloacral Dysplasia |
|
Alopecia, Contractures of the large joints, Increased circulating free fatty acid level, Increase... |
ORPHA:2457 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration, Decreased nerve co... |
ORPHA:101082 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Neurodegeneration With Brain Iron Accumulation |
|
Retinopathy, Dystonia, Optic atrophy |
ORPHA:385 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... |
OMIM:609734 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Sensory axonal neuropathy, Optic atrophy |
ORPHA:329314 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Dystonia |
OMIM:252650 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Obesity, Dystonia, Hy... |
OMIM:616267 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
Retinitis Pigmentosa |
|
Optic atrophy, Obesity, Abnormality of retinal pigmentation, Cataract, Atypical scarring of skin,... |
ORPHA:791 |
Cystinosis |
|
Retinopathy, Hypokalemia, Hypophosphatemia, Failure to thrive, Corneal opacity |
ORPHA:213 |
Renal Glucosuria |
|
Glycosuria, Polyphagia, Polydipsia |
OMIM:233100 |
Merrf |
|
Multiple lipomas, Optic atrophy |
ORPHA:551 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Reduced subcutaneous adipose tissue, Adipose tissue loss, Enlarg... |
OMIM:151660 |
Cofs Syndrome |
|
Camptodactyly of finger, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Arthrogryp... |
ORPHA:1466 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Temple Syndrome |
|
Flexion contracture, Small for gestational age, Obesity, Truncal obesity, Overweight, Hypercholes... |
OMIM:616222 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, I... |
ORPHA:280365 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Adipose tissue loss, Lipodystrophy, Failure to thrive, Hypercholestero... |
ORPHA:528 |
Macrosomia Adiposa Congenita |
|
Polyphagia, Adrenocortical adenoma |
OMIM:248100 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Macular edema, Weight loss, Anterior chamber flare, Posterior synechiae of t... |
ORPHA:91500 |
Apolipoprotein C-Ii Deficiency |
|
Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,... |
OMIM:207750 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hirsutism, Action tremor, Hypercholesterolemia, Obesity |
ORPHA:77296 |
Bardet-Biedl Syndrome 20 |
|
Rod-cone dystrophy, Retinal vascular tortuosity, Obesity, Astigmatism, Hypercholesterolemia, Papi... |
OMIM:619471 |
Smith-Magenis Syndrome |
|
Synophrys, Obesity, Microcornea, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, ... |
ORPHA:819 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Elevated circulating acylcarnitine concentration, Dystonia, Optic atrophy |
ORPHA:26792 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Leukocoria, Macular h... |
ORPHA:91495 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Rod-cone dystrophy, Optic atrophy, Achilles tendon contracture, Intention tremor, Cataract, Decre... |
OMIM:612674 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Lissencephaly 8 |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Coloboma, Ocular, Autosomal Dominant |
|
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... |
OMIM:120200 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:612572 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Increased serum testosterone level, Fasting hypoglycemia, Diabetic ketoacidosis... |
ORPHA:2298 |
Prune1-Related Neurological Syndrome |
|
Cataract, Retinopathy, Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:544469 |
Megalocornea-Intellectual Disability Syndrome |
|
Megalocornea, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Iridodonesis, Abnormal a... |
ORPHA:2479 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... |
ORPHA:300373 |
Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... |
ORPHA:86816 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypergonadotropic hypogonadism, Neonatal hypoglycemia, Decreased response to growth h... |
OMIM:606407 |
Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity, Hypercholesterolemia |
ORPHA:254531 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Abnormal autonomic nervous system physiology, Cachexia, Tremor, Abnormal c... |
ORPHA:97229 |
Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... |
OMIM:620102 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... |
ORPHA:67042 |
Infantile Refsum Disease |
|
Rod-cone dystrophy, Optic atrophy, Elevated circulating phytanic acid concentration, Failure to t... |
ORPHA:772 |
Juvenile Glaucoma |
|
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... |
ORPHA:98977 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Dent Disease 2 |
|
Hypophosphatemia, Umbilical hernia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Elevated circulating phytanic acid concentration, Retinal dystrophy, Failure to th... |
OMIM:614877 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Choreoathetosis, Decreased nerve conduction velocity, Optic disc pallor, Intention... |
ORPHA:98890 |
Megalocornea-Mental Retardation Syndrome |
|
Megalocornea, Hypoplasia of the iris, Hypercholesterolemia, Iridodonesis, Low anterior hairline |
OMIM:249310 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism |
OMIM:617119 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture, Motor axonal neuropathy, Optic atrophy, Sensor... |
OMIM:609541 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Arthrogryposis multipl... |
OMIM:615547 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Retinitis Pigmentosa 38 |
|
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy |
OMIM:613862 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Polyphagia, Polydipsia |
OMIM:615986 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Megalocornea, Coloboma, Optic atrophy, Elevated circulating creatine kinase concentration, Optic ... |
ORPHA:370959 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Retinitis Pigmentosa 26 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:608380 |
Retinitis Pigmentosa 63 |
|
Rod-cone dystrophy, Optic disc pallor |
OMIM:614494 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Multiple jo... |
ORPHA:320406 |
Cog4-Cdg |
|
Failure to thrive in infancy, Thick hair, Hypercholesterolemia |
ORPHA:263501 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Optic atrophy, Elevated circulating creatine kinase concentration, O... |
ORPHA:254886 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperphosphatemia, Fair hair, Blue irides, Red hair, Hypocalcemia, Obesity |
ORPHA:280651 |
Pick Disease Of Brain |
|
Disinhibition, Polyphagia |
OMIM:172700 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture, Joint contracture, Elevated circulating creatine ... |
OMIM:160565 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Joint contracture of the hand, Campt... |
OMIM:609033 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... |
ORPHA:247585 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia |
ORPHA:177910 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Polyphagia |
OMIM:618774 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d... |
OMIM:152950 |
Laron Syndrome |
|
Truncal obesity, Hypercholesterolemia |
ORPHA:633 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Cataract, Optic disc pallor, Vaginal hernia |
ORPHA:3173 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Tremor, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
Zika Virus Disease |
|
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro... |
ORPHA:448237 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:588 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Retinal degeneration, Elevated circulating tiglylglycine concentration, Optic at... |
OMIM:300438 |
Night Blindness, Congenital Stationary, Type 1G |
|
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness |
OMIM:616389 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Hypophosphatemia, Corneal crystals, Abnormal blood ion concentration, Failure to thr... |
ORPHA:411629 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
Congenital Hydrocephalus |
|
Macular hypoplasia, Iris coloboma, Optic atrophy |
ORPHA:2185 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmentation ... |
ORPHA:3214 |
Wildervanck Syndrome |
|
Low posterior hairline, Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture, Optic atrophy, Elevated circulating creatine k... |
OMIM:253800 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Choreoathetosis, Failure to thrive, Aplasia of the left hemidiaphragm, Dystonia |
OMIM:618238 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Optic atrophy, Mildly elevated creatine kinase, Peripheral axonal neuropathy, Dys... |
ORPHA:401768 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia, Cataract |
ORPHA:272 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Fail... |
OMIM:605814 |
Dysbetalipoproteinemia |
|
Corneal arcus, Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concen... |
ORPHA:412 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... |
OMIM:600132 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Huntington Disease |
|
Choking episodes, Agitation, Polyphagia, Disinhibition, Alcoholism, Oral-pharyngeal dysphagia |
ORPHA:399 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia |
OMIM:613886 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Optic atrophy |
OMIM:619052 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Small for gestational age, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Hyperlipoproteinemia, Type I |
|
Lipemia retinalis, Lactescent serum, Hyperlipidemia, Hypercholesterolemia, Increased circulating ... |
OMIM:238600 |
Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:606068 |
Frontotemporal Dementia |
|
Disinhibition, Polyphagia |
OMIM:600274 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, Decrea... |
ORPHA:457205 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Knee flexion contracture, Retinopathy, Optic atrophy, Abnormal macular morphology, Camptodactyly,... |
OMIM:608799 |
Harel-Yoon Syndrome |
|
Optic atrophy, Developmental cataract, Peripheral axonal neuropathy, Corneal opacity, Dystonia |
OMIM:617183 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Increased LDL chole... |
OMIM:277460 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:180100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Increased facial adipose tissue, Flexion contracture, Sparse scalp hair, Calcinosis, Re... |
OMIM:248370 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Dystonia, Leber optic atrophy, Optic atrophy |
OMIM:500001 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Thick hair, Overweight, Highly arched eyebrow, Hypercholesterolemia |
ORPHA:401923 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Obesity, Truncal obesity, Hypercholesterolemia |
ORPHA:96184 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Failure to thrive, Cataract, Chorioretinal coloboma |
ORPHA:163937 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... |
OMIM:262190 |
Walker-Warburg Syndrome |
|
Abnormal circulating creatine kinase concentration, Optic atrophy, Retinal dystrophy, Abnormal op... |
ORPHA:899 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Corneal arcus, Elevated circulating sitosterol concentration, Xanthela... |
OMIM:210250 |
Srd5A3-Cdg |
|
Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Cataract, Abnormal hair morph... |
ORPHA:324737 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Ca... |
OMIM:614643 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia |
ORPHA:411515 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Leukodystrophy, Hypomyelinating, 22 |
|
Astigmatism, Flexion contracture, Optic disc pallor |
OMIM:619328 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... |
ORPHA:525731 |
Refractory Celiac Disease |
|
Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation ... |
OMIM:615233 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:398073 |
Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Increased circ... |
OMIM:300942 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... |
ORPHA:552 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... |
OMIM:601552 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Alg8-Cdg |
|
Retinopathy, Optic atrophy, Abnormality of subcutaneous fat tissue, Small for gestational age, Ca... |
ORPHA:79325 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy |
OMIM:615434 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... |
OMIM:616170 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Retinal degeneration, Abnormal auditory evoked potentials, Synophrys, Macular atrophy, Attenuatio... |
OMIM:619260 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Polyphagia |
OMIM:616521 |
Distal Monosomy 6P |
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Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Alopecia, Hypophosphatemia, Abnormal adipose tissue morphology, Hypocalcemia |
ORPHA:93160 |
Hemorrhagic Fever-Renal Syndrome |
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Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia, Decreased body we... |
ORPHA:340 |
X-Linked Corneal Dermoid |
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Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Hyperalaninemia, Optic atrophy, Small for gestational age, Failure to thrive, Hyperammonemia, Dys... |
OMIM:614702 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response, Optic atrophy, Failure to thrive, Prolonged brainstem auditory evok... |
OMIM:616881 |
Reese Retinal Dysplasia |
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Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Developmental And Epileptic Encephalopathy 93 |
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Iris coloboma, Optic atrophy |
OMIM:618012 |
Familial Isolated Hyperparathyroidism |
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Hypophosphatemia, Chondrocalcinosis, Hypercalcemia |
ORPHA:99879 |
Fanconi-Bickel Syndrome |
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Reduced subcutaneous adipose tissue, Hypophosphatemia, Hypokalemia, Failure to thrive, Hypouricemia |
OMIM:227810 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Dystonia |
ORPHA:79312 |
Retinitis Pigmentosa 12 |
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Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:600105 |
Neonatal Adrenoleukodystrophy |
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Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Lysosomal Acid Lipase Deficiency |
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Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:278000 |
Alagille Syndrome 1 |
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Posterior embryotoxon, Axenfeld anomaly, Microcornea, Failure to thrive, Cataract, Chorioretinal ... |
OMIM:118450 |
6Q16 Microdeletion Syndrome |
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Polyphagia |
ORPHA:171829 |
Magel2-Related Prader-Willi-Like Syndrome |
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Central hypothyroidism, Flexion contracture, Precocious puberty, Hypogonadism, Hypothalamic lutei... |
ORPHA:398069 |
Chromosome Xp11.3 Deletion Syndrome |
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Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... |
OMIM:300578 |
Sim1-Related Prader-Willi-Like Syndrome |
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Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... |
ORPHA:398079 |
Aniridia 1 |
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Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... |
OMIM:106210 |
Amaurosis-Hypertrichosis Syndrome |
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Cone/cone-rod dystrophy, Optic atrophy, Synophrys, Retinal dystrophy, Abnormal eyelash morphology... |
ORPHA:1021 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Cataract, Optic disc pallor |
OMIM:613730 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Enamel hypoplasia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures, Hypocalcemia |
OMIM:264700 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Failure to thrive, Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Abnormal circulating calcium concentration, Failure to thrive, Hypophosphatemia, Hypophosphatemic... |
OMIM:241530 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Choreoathetosis, Hyperammonemia, Dystonia, Optic atrophy |
ORPHA:289916 |
Vitamin D-Dependent Rickets, Type 2A |
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Enamel hypoplasia, Hypophosphatemia, Alopecia universalis, Failure to thrive, Hypocalcemic seizures |
OMIM:277440 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Polyphagia |
OMIM:620085 |
Cystinosis, Nephropathic |
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Reduced blood urea nitrogen, Failure to thrive in infancy, Retinopathy, Weight loss, Decreased pl... |
OMIM:219800 |
Prader-Willi Syndrome |
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Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
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Failure to thrive, Hyperammonemia, Dystonia, Optic atrophy |
OMIM:614739 |
Exercise-Induced Malignant Hyperthermia |
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Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Triple A Syndrome |
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Iris coloboma, Optic atrophy, Motor axonal neuropathy |
ORPHA:869 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Hyperalaninemia, Hyperprolinemia, Optic disc pallor |
OMIM:619170 |
Optic Nerve Hypoplasia, Bilateral |
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Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... |
OMIM:165550 |
Congenital Disorder Of Glycosylation, Type Iq |
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Coloboma, Optic atrophy, Failure to thrive, Cataract, Hypertrichosis |
OMIM:612379 |
Juvenile Nephropathic Cystinosis |
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Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Failure to thrive, Abnormal... |
ORPHA:411634 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... |
ORPHA:157215 |
Marinesco-Sjögren Syndrome |
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Abnormal circulating creatine kinase concentration, Cataract, Optic atrophy |
ORPHA:559 |
Jaberi-Elahi Syndrome |
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Sparse eyebrow, Optic atrophy, Brittle hair, Choreoathetosis, Fine hair, Failure to thrive, Catar... |
OMIM:617988 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Polyphagia |
ORPHA:228402 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Hypercholesterolemia |
ORPHA:209902 |
Alport Syndrome 3, Autosomal Dominant |
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Azotemia, Anterior polar cataract, Hypophosphatemia, Lenticonus |
OMIM:104200 |
Hypophosphatemic Bone Disease |
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Hypophosphatemia |
OMIM:146350 |
X-Linked Recessive Ocular Albinism |
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Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... |
ORPHA:54 |
Jalili Syndrome |
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Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Hypophosphatemia |
OMIM:308990 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Optic atrophy, Mildly elevated creatine kinase, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:95433 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypercholesterolemia, Increased LDL cholesterol concentration, Truncal obesity, Hypertriglyceride... |
OMIM:615812 |
Oculocerebrorenal Syndrome Of Lowe |
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Abnormal pupil morphology, Hypercholesterolemia, Hyperaldosteronism, Sparse scalp hair, Lentiglob... |
ORPHA:534 |
Hereditary Fructose Intolerance |
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Hypophosphatemia, Cataract, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Congenital Sialidosis Type 2 |
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Cherry red spot of the macula, Optic atrophy, Generalized hypertrichosis, Developmental cataract,... |
ORPHA:93400 |
Xfe Progeroid Syndrome |
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Enamel hypoplasia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Cachexia, Attenu... |
OMIM:610965 |
Short Syndrome |
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Abnormal pupil morphology, Alopecia, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia... |
ORPHA:3163 |
Hyperekplexia 2 |
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Astigmatism, Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Oculopalatocerebral Syndrome |
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Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Craniopharyngioma |
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Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... |
ORPHA:54595 |
Pituitary Hormone Deficiency, Combined, 6 |
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Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Enamel hy... |
OMIM:307800 |
Man1B1-Cdg |
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Polyphagia |
ORPHA:397941 |
Retinitis Pigmentosa 74 |
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Rod-cone dystrophy, Optic disc pallor, Posterior polar cataract, Obesity, Pigmentary retinopathy |
OMIM:616562 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Lipoatrophy, Premature graying of hair, Absent eyelashes, Alopecia universalis, Absent eyebrow, H... |
ORPHA:363618 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Multiple Endocrine Neoplasia, Type I |
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Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... |
OMIM:131100 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentra... |
OMIM:619743 |
Glucocorticoid Resistance, Generalized |
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Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... |
OMIM:268315 |
Juvenile Sialidosis Type 2 |
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Cherry red spot of the macula, Optic atrophy, Generalized hypertrichosis, Inguinal hernia, Catara... |
ORPHA:93399 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Enamel hypoplasia, Elevated maternal serum alpha-fetoprotein, Joint cont... |
OMIM:309000 |
Juvenile Paget Disease |
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Hyperuricemia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2801 |
Colchicine Poisoning |
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Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalc... |
ORPHA:31824 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
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Hypophosphatemia |
OMIM:612287 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Optic atrophy, Choreoathetosis, Abnormality of retinal pigmentation, Cataract, Abnormal retinal v... |
ORPHA:2715 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
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Hyperalaninemia, Optic atrophy, Choreoathetosis, Failure to thrive, Optic neuropathy, Optic disc ... |
OMIM:618249 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:370 |
Cinca Syndrome |
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Papilledema, Elevated circulating C-reactive protein concentration, Uveitis |
OMIM:607115 |
Leber Optic Atrophy |
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Central retinal vessel vascular tortuosity, Optic atrophy, Postural tremor, Leber optic atrophy, ... |
OMIM:535000 |
Galloway-Mowat Syndrome 7 |
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Hypercholesterolemia |
OMIM:618348 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Multiple lipomas, Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis |
OMIM:600740 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... |
ORPHA:264580 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Retinal dystrophy, Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, Optic dis... |
ORPHA:423479 |
Multiple Sulfatase Deficiency |
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Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... |
ORPHA:585 |
Mevalonic Aciduria |
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Attenuation of retinal blood vessels, Elevated circulating creatine kinase concentration, Failure... |
OMIM:610377 |
Trisomy 18P |
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Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:1715 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... |
OMIM:614736 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Elevated circulating creatine kinase conc... |
OMIM:236670 |
Birk-Landau-Perez Syndrome |
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Optic atrophy, Choreoathetosis, Hyperkalemia, Long eyelashes, Dystonia, Increased circulating cre... |
OMIM:617595 |
Gangliocytoma |
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Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolactin level, Polyph... |
ORPHA:251937 |
Retinitis Pigmentosa 41 |
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Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Hypophosphatemia |
OMIM:612286 |
Pearson Syndrome |
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Hyperalaninemia, Small for gestational age, Hypophosphatemia, Hypokalemia, Corneal stromal edema,... |
ORPHA:699 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Flexion contracture, Hip contracture, Optic atrophy, Elbow flexion ... |
OMIM:617301 |
Oculo-Palato-Cerebral Syndrome |
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Leukocoria, Cataract, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Cone-Rod Dystrophy 3 |
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Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... |
OMIM:604116 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Enamel hypoplasia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Prader-Willi Syndrome |
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Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
Trichothiodystrophy 4, Nonphotosensitive |
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Trichorrhexis nodosa, Optic atrophy, Brittle hair, Keratoconjunctivitis sicca, Microcornea, Wooll... |
OMIM:234050 |
Wolfram Syndrome 1 |
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Cataract, Tremor, Pigmentary retinopathy, Optic atrophy |
OMIM:222300 |
Incontinentia Pigmenti |
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Atrophic, patchy alopecia, Retinal hemorrhage, Alopecia, Retinal vascular proliferation, Optic at... |
OMIM:308300 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Delayed puberty, Polyphagia, Abnormal dental enamel morphology |
ORPHA:251004 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Knee flexion contracture, Hypophosphatemia, Hip contracture, Hypercalcemia |
OMIM:156400 |
Fanconi Renotubular Syndrome 1 |
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Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Generalized dystonia, Rod-cone dystrophy, Weight loss, Opisthotonus, Optic disc pallor, Pigmentar... |
ORPHA:216866 |
Cockayne Syndrome Type 1 |
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Conjunctivitis, Enamel hypoplasia, Foot joint contracture, Abnormality of peripheral nerve conduc... |
ORPHA:90321 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
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Blepharospasm, Optic atrophy, Failure to thrive, Athetosis, Limb joint contracture, Craniofacial ... |
OMIM:617282 |
Fanconi-Bickel Syndrome |
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Failure to thrive, Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Proteus-Like Syndrome |
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Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Shagreen patch, Retina... |
ORPHA:2969 |
Atypical Werner Syndrome |
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Hyperinsulinemia, Hypogonadism, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Neoplas... |
ORPHA:79474 |
Retinitis Pigmentosa 58 |
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Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Decreased LDL cholesterol concentration, Rod-cone dystrophy, Decreased body weight, Optic atrophy... |
ORPHA:96180 |
Sturge-Weber Syndrome |
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Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr... |
ORPHA:3205 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Failure to thrive, Exaggerated startle response, Joint contracture, Optic nerve hypoplasia |
OMIM:617864 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia |
OMIM:610644 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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Mildly elevated creatine kinase, Tremor, Lipoma, Optic disc pallor, Pigmentary retinopathy, Thick... |
ORPHA:502423 |
Keppen-Lubinsky Syndrome |
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Flexion contracture, Decreased serum leptin, Generalized lipodystrophy, Lack of facial subcutaneo... |
OMIM:614098 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypophosphatemia, Large for gestational age, Hypouricemia |
OMIM:616026 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubinemia, Hyperch... |
ORPHA:90674 |
Familial Dysautonomia |
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Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis, Corneal opacity,... |
ORPHA:1764 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypercholesterolemia |
ORPHA:90065 |
Hermansky-Pudlak Syndrome 8 |
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Iris transillumination defect, Ocular albinism, Albinism, Silver-gray hair, Astigmatism, Hypoplas... |
OMIM:614077 |
Hyperparathyroidism, Neonatal Severe |
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Failure to thrive, Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Abnormality of peripheral nerve conduction, Weight loss, Transient hypophos... |
ORPHA:79102 |
Jalili Syndrome |
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Amelogenesis imperfecta, Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enam... |
ORPHA:1873 |