Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Hypertriglyceridemia, Increased adipose ... |
ORPHA:71529 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy, Abnormal oral glucose tolerance |
OMIM:311100 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy, Hearing impairment, Progressive hearing impairment, Type II diabetes mellitus, Sen... |
OMIM:614296 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hyperinsulinemia, C... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hyperinsulinemia, C... |
ORPHA:71526 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Hearing impairment, Rod-cone dystrophy |
OMIM:617717 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:165199 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... |
ORPHA:293964 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Sensorineural hearing impairment |
OMIM:136600 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan... |
OMIM:612526 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... |
OMIM:144300 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... |
OMIM:620044 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
EEG abnormality, Optic atrophy, Hearing impairment, Chorioretinal coloboma |
ORPHA:2732 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Optic Atrophy 9 |
|
Optic atrophy, Optic disc pallor |
OMIM:616289 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor... |
OMIM:300946 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... |
OMIM:616959 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... |
OMIM:601382 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Claw hand deformity |
OMIM:618511 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy |
OMIM:609055 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increased C-peptide level, Decr... |
OMIM:615238 |
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2 |
|
Optic atrophy |
OMIM:620569 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... |
ORPHA:314811 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Decreased motor nerve conduction velocity, Decreased number of peripheral myelin... |
OMIM:607250 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... |
OMIM:616860 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Hearing impairment |
OMIM:165300 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... |
ORPHA:435651 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... |
OMIM:619868 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, EEG with generalized polyspikes, Retinal dystrophy |
OMIM:614706 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276580 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Lipodystrophy, Familial Partial, Type 2 |
|
Enlarged peripheral nerve, Increased adipose tissue around the neck, Increased facial adipose tis... |
OMIM:151660 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, EEG with generalized epileptiform discharges, Camptodactyly of finger, EEG with oc... |
OMIM:619323 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Focal pancreati... |
ORPHA:276575 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Motor axonal neuro... |
OMIM:617519 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertr... |
OMIM:617885 |
Retinitis Pigmentosa 71 |
|
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... |
OMIM:616394 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Hearing impairment, Pancytopenia, Hypomethi... |
ORPHA:2169 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy, Sensorineural hearing impairment |
OMIM:620086 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Sensorineural hearing impairment, Abnormal retinal nerve ... |
ORPHA:1215 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe |
ORPHA:320396 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... |
OMIM:615234 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Merrf |
|
Optic atrophy, Multiple lipomas, Sensorineural hearing impairment |
ORPHA:551 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... |
ORPHA:276556 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Hearing impairment, Peripheral axonal neuropathy, Decreased number of large periph... |
OMIM:617087 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Decreased motor nerve conduction velocity, Hearing impairment, Decreased sensory n... |
OMIM:609260 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Retinal degeneration, Bone... |
OMIM:618889 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Bone Marrow Failure Syndrome 3 |
|
Cupped ear, Failure to thrive, Hearing impairment, Aplastic anemia, Persistence of hemoglobin F, ... |
OMIM:617052 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning |
OMIM:618970 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... |
OMIM:143200 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hirsutism, Polyphagia, L... |
OMIM:608594 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Sensori... |
ORPHA:79237 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... |
OMIM:618858 |
Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight |
ORPHA:99852 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... |
ORPHA:86839 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... |
OMIM:616828 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... |
OMIM:222100 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Hearing impairment, Polycyth... |
OMIM:600501 |
Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Attenuation of retinal blood vessels, Hearing impairment, Bull's eye maculopathy |
OMIM:614504 |
Wolfram-Like Syndrome |
|
Optic atrophy, Congenital sensorineural hearing impairment, Glucose intolerance, Peripheral axona... |
ORPHA:411590 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Hyperinsulinemia, Elevated hemoglobin A1c, Type II diabetes mellitus, Reduced s... |
OMIM:269700 |
Majeed Syndrome |
|
Failure to thrive, Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadeq... |
OMIM:609628 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
EEG abnormality, Optic atrophy, Pigmentary retinopathy, Retinopathy |
OMIM:610951 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Pontocerebellar Hypoplasia, Type 1E |
|
Elbow flexion contracture, Optic atrophy, EEG with burst suppression, Knee flexion contracture |
OMIM:619303 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hypercholesterolemia, Trun... |
OMIM:616222 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia, Reduced C-peptide level, Flexion contrac... |
OMIM:618856 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Bilateral sensorineural hearing impairment, Papilledema, Retinal arteriolar constriction, Progres... |
OMIM:124950 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Sideroblastic anemia, Sensorineural hearing impairment, Megaloblastic anemia, Abno... |
OMIM:598500 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... |
OMIM:210250 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Obesity Due To Sim1 Deficiency |
|
Attention deficit hyperactivity disorder, Polyphagia, Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Retinitis Pigmentosa 62 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Failure to thrive, Hearing impairment, Leukem... |
ORPHA:811 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
Smith-Magenis Syndrome |
|
Abnormal nerve conduction velocity, Hearing impairment, Abnormal middle ear morphology, Increased... |
OMIM:182290 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Failure to thriv... |
OMIM:617872 |
Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Failure to thrive, Hyperinsulinemia, Adipose tissue loss, Lipodystrophy, Hype... |
ORPHA:528 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system, Hearing impairment |
ORPHA:1186 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... |
OMIM:615812 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Rod-cone dystrophy, Segmenta... |
OMIM:311070 |
Transient Neonatal Diabetes Mellitus |
|
Hearing impairment, Failure to thrive, Umbilical hernia, Maturity-onset diabetes of the young, Hy... |
ORPHA:99886 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... |
OMIM:601455 |
Optic Atrophy 15 |
|
Optic atrophy, Optic disc pallor |
OMIM:620583 |
Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Polyphagia |
OMIM:620195 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Macular degeneration, Retinal degeneration, EEG abnormality, Vacuolated lymphocyte... |
OMIM:256730 |
Cone-Rod Dystrophy 16 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... |
OMIM:614500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... |
OMIM:615160 |
Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration |
OMIM:258500 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Hearing impairment, Protruding ear, Thrombocytopenia, Chronic ... |
ORPHA:261250 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy, Failure to thrive |
OMIM:271930 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular v... |
OMIM:611590 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... |
ORPHA:280365 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Axonal degeneration, Elevated circulating creatine kinase concentration, Periphe... |
OMIM:208920 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyperbilirubinemia,... |
OMIM:609734 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness |
OMIM:616389 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... |
ORPHA:300298 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... |
OMIM:614963 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia |
ORPHA:75234 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Optic atrophy, Failure to... |
ORPHA:26792 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
Cebalid Syndrome |
|
Highly arched eyebrow, Polyphagia, Thick eyebrow, Congenital diaphragmatic hernia |
OMIM:618774 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing impairment, Re... |
OMIM:612562 |
Optic Atrophy 5 |
|
Optic atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials |
OMIM:610708 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Lipemia retinalis, Hypercholestero... |
OMIM:207750 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Axonal degeneration, Decreased number of peripheral myelinated ner... |
OMIM:604484 |
Schaaf-Yang Syndrome |
|
Hypogonadism, Thick eyebrow, Polyphagia, Skin-picking, Camptodactyly, Flexion contracture, Arthro... |
OMIM:615547 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy |
OMIM:613862 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi... |
ORPHA:95717 |
Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic atrophy, Optic disc pallor, Hypsarrhythmia |
OMIM:618776 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen |
OMIM:618632 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood urea nitrogen, Hyper... |
OMIM:620085 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ... |
OMIM:619260 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Disinhibition, Polypha... |
ORPHA:399 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Decreased serum leptin |
OMIM:614962 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Hypoglycemia, Sensorineural hearing impairment, Retinal degeneration, Elevated cir... |
OMIM:300438 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decre... |
OMIM:608612 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Foot joint contracture, Sensory axonal neuropathy, Decreased nerve conduction velo... |
ORPHA:457205 |
Laron Syndrome |
|
Hypoglycemia, Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... |
ORPHA:254516 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairmen... |
OMIM:520000 |
Cholesteryl Ester Storage Disease |
|
Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hy... |
OMIM:278000 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa... |
OMIM:231100 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Sensorineural hearing impairment |
ORPHA:85297 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... |
OMIM:608553 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... |
OMIM:248370 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Hearing impairment, Epiretinal membrane, Trac... |
ORPHA:891 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c... |
ORPHA:95716 |
Immunodeficiency 96 |
|
Recurrent otitis media, Increased proportion of gamma-delta T cells, Increased mean corpuscular v... |
OMIM:619774 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hypercholesterolemia, Hyperuricemia, Diabetes mellitus |
ORPHA:77296 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... |
OMIM:605814 |
14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggr... |
ORPHA:261229 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity |
ORPHA:98890 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... |
ORPHA:231736 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hypercholesterolemia, Trun... |
ORPHA:96184 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Sensorineural hear... |
OMIM:249270 |
Diamond-Blackfan Anemia |
|
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... |
ORPHA:124 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Failure to thrive, Splenomegaly, Thrombocytopenia, Anemia, Facial palsy |
OMIM:615085 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy, Hearing impairment |
ORPHA:178377 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... |
OMIM:165550 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Megaloblastic anemia, Thrombocytopenia, Diabetes... |
ORPHA:49827 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529799 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ... |
OMIM:275000 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Increas... |
ORPHA:79240 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Bilateral sensorineural hearing impairment, Decreased mean corpuscular volume, Increased HbA2 hem... |
OMIM:616943 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology |
ORPHA:3151 |
Cinca Syndrome |
|
Hearing impairment, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Leukocytosi... |
OMIM:607115 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen... |
ORPHA:3240 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Long eyelashes, Hypocalcemia, Polyphagia, ... |
OMIM:606407 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Paroxysmal bur... |
ORPHA:228402 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... |
OMIM:616170 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration... |
ORPHA:264580 |
Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... |
OMIM:277460 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi... |
OMIM:616881 |
3-Methylglutaconic Aciduria Type 9 |
|
Optic atrophy, Failure to thrive, Slender build, Hypsarrhythmia, EEG abnormality |
ORPHA:505216 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichos... |
OMIM:262190 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:180100 |
Canavan Disease |
|
Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation, EEG abnormality, Flexion ... |
ORPHA:141 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Failure to thrive in infancy, Obesity, Retinal detachment, Hyperch... |
ORPHA:819 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... |
ORPHA:280234 |
Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... |
OMIM:204100 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Cyanosis, Hepatic steatosis, Low p... |
OMIM:261680 |
Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... |
ORPHA:231226 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... |
OMIM:300476 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Hypopigmentation of hair, Polyphagia |
ORPHA:177910 |
Krabbe Disease |
|
Optic atrophy, Failure to thrive, Hearing impairment, Decreased nerve conduction velocity, Periph... |
OMIM:245200 |
Optic Atrophy 14 |
|
Optic disc pallor |
OMIM:620550 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hypopigmentation of hair, Inappropriate laughter, Hyperactivity |
ORPHA:411515 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... |
OMIM:251270 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Failure to thrive, Hyperammonemia, Splenomegaly, Neutropenia, Thrombocytopenia, An... |
ORPHA:79312 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Splenomegaly, Reticulocytosis, Thrombocytopenia, Anemia, Optic disc pallor, Facial... |
OMIM:611490 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Macrotia, Decreased body weight |
ORPHA:1672 |
Sarcosinemia |
|
Optic atrophy, Infantile sensorineural hearing impairment, Hypersarcosinemia |
ORPHA:3129 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Optic atrophy, Failure to thrive, Large earlobe, Decreased body weight, EEG abnormality, Flexion ... |
OMIM:618346 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Optic atrophy, Failure to thrive, Hypoglycemia, Hyperammonemia, Sensorineural hearing impairment,... |
OMIM:614739 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia, Optic atrophy, Decreased motor nerve conduction velocity, Abnormality of somatosens... |
ORPHA:1187 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... |
OMIM:618195 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Pigmentary retinopathy, Type I diabetes mellitus, Hypocholesterolemia, Abnormal er... |
ORPHA:96180 |
Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... |
ORPHA:231214 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Aggressive behavior, Self-mutilation |
OMIM:616521 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Sensorineural hearing impairment, Retinal detachment, Iris... |
ORPHA:1473 |
Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:600274 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor, Sensorineural hearing impairment |
OMIM:612989 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... |
ORPHA:98793 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia |
OMIM:617119 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Small for gestat... |
OMIM:614702 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... |
ORPHA:177904 |
Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... |
OMIM:120200 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... |
ORPHA:247585 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... |
ORPHA:177901 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... |
ORPHA:98754 |
6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Thick eyebrow |
ORPHA:171829 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Central hypothyroidism, Hypo... |
ORPHA:398069 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Overweight, Hypercholesterolemia |
ORPHA:401923 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia |
ORPHA:27 |
Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
Lipodystrophy, Familial Partial, Type 7 |
|
Low-set ears, Insulin resistance, Pigmentary retinopathy, Type I diabetes mellitus, Failure to th... |
OMIM:606721 |
Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... |
OMIM:193700 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:600105 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Increa... |
ORPHA:90674 |
Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Chorioretinitis, Splenomegaly, Sensorineural hearing impairment, Anemia, Thrombocy... |
ORPHA:294 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hypercholest... |
ORPHA:412 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Failure to thrive, Hearing impairm... |
ORPHA:90321 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... |
OMIM:105650 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Hyperglycemia |
OMIM:615986 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... |
OMIM:614736 |
Joubert Syndrome 10 |
|
Polyphagia, Frequent temper tantrums, Hirsutism |
OMIM:300804 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment |
ORPHA:99014 |
X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia |
OMIM:615026 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy, Smal... |
OMIM:218030 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... |
ORPHA:189427 |
Infantile Refsum Disease |
|
Optic atrophy, Failure to thrive, Hearing impairment, Elevated circulating phytanic acid concentr... |
ORPHA:772 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Incr... |
ORPHA:90673 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness |
OMIM:620439 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Optic disc pallor, Hyperalaninemia |
OMIM:619170 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
ORPHA:226313 |
Proximal Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Optic atrophy, Mildly elevated creatine kinase |
ORPHA:401768 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub... |
OMIM:613986 |
Prader-Willi Syndrome |
|
Precocious puberty, Self-injurious behavior, Decreased HDL cholesterol concentration, Decreased r... |
OMIM:176270 |
Bardet-Biedl Syndrome 20 |
|
Retinal vascular tortuosity, Obesity, Papilledema, Hypercholesterolemia, Rod-cone dystrophy |
OMIM:619471 |
Cinca Syndrome |
|
Abnormality of neutrophils, Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, Se... |
ORPHA:1451 |
Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation, Hearing impairment |
ORPHA:65 |
Man1B1-Cdg |
|
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Long eyebrows |
ORPHA:397941 |
Infantile Spasms-Broad Thumbs Syndrome |
|
EEG abnormality, Optic disc pallor, Vaginal hernia |
ORPHA:3173 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
Optic Atrophy 11 |
|
Optic atrophy, Hearing impairment, Cherry red spot of the macula, EEG with focal sharp waves, Fac... |
OMIM:617302 |
Wildervanck Syndrome |
|
Pseudopapilledema, Hearing impairment |
OMIM:314600 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Polyphagia, Delayed puberty, Increased blood urea nitrogen, Hy... |
ORPHA:251004 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Primary hypothyroidism, Polyphagia, Low plasma citrulline, Steatorrhea, A... |
ORPHA:95427 |
Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
Zika Virus Disease |
|
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Transient hear... |
ORPHA:448237 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Obesity, Overweight, Hearing impairment |
OMIM:614651 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Failure to thrive, Chorioretinal coloboma, Sensorineural hearing impairment, Macro... |
ORPHA:163937 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Osteopetrosis, Autosomal Recessive 9 |
|
Anemia, Elevated circulating creatinine concentration, Papilledema, Hyperkalemia |
OMIM:620366 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Centra... |
ORPHA:398079 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Joint contracture of the hand, Pigmentary retinopathy, Peripheral demyelination, A... |
OMIM:609033 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal insufficiency, Cyanosis, Hyponatremia, Adrenal hypoplasia, Hyperkalemia |
OMIM:240200 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type ... |
ORPHA:453533 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia |
ORPHA:209902 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity, Small for ... |
OMIM:618857 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Low-set ears, Elevated amniotic fluid alpha-fetoprotein, Undetectable visual evoked potentials, S... |
ORPHA:423479 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... |
ORPHA:293987 |
Retinitis Pigmentosa 10 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:180105 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Hearing impairment, Glycosuria, Sensorineural hearing impairment, Bone spicule pig... |
OMIM:268315 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... |
OMIM:617049 |
Pediatric-Onset Graves Disease |
|
Graves disease, Polydipsia, Goiter, Puberty and gonadal disorders, Increased circulating free T3,... |
ORPHA:525731 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Poikilocytosi... |
OMIM:618278 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Low-set ears, Optic atrophy, Failure to thrive, Sensorineural hearing impairment, EEG abnormality... |
ORPHA:2971 |
Jalili Syndrome |
|
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Enamel agenesis, Cone/... |
OMIM:217080 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Hea... |
ORPHA:206436 |
Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... |
OMIM:604116 |
Canavan Disease |
|
Optic atrophy, Hearing impairment, Hypsarrhythmia, Multifocal epileptiform discharges, Increased ... |
OMIM:271900 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Decreased motor nerve conduction velocity, Mild neurosensory hearing impairment, A... |
OMIM:601152 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypoglycemia, Hypercholesterolemia, Hyperammonemia, Knee flexion contracture |
OMIM:620454 |
Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Sideroblastic anemia, Sensorineural he... |
OMIM:222300 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia, Inguinal hernia, Joint contracture |
OMIM:614498 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612572 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Sensorineural hearing impairment, Optic atrophy, Hyperalaninemia, Retinal degeneration |
OMIM:616896 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, H... |
ORPHA:470 |
Aniridia 2 |
|
Optic atrophy, Aniridia, Iris coloboma |
OMIM:617141 |
Neuhauser Syndrome |
|
Cupped ear, Retinal detachment, Hypercholesterolemia, Large fleshy ears |
OMIM:249310 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Hyperuricemia, Hearing impairment |
ORPHA:2801 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic atrophy, Failure to thrive, Hearing impairment, Hyperalaninemia, Optic disc pallor, Optic n... |
OMIM:618249 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
Muscle-Eye-Brain Disease |
|
Optic atrophy, EEG abnormality, Elevated circulating creatine kinase concentration |
ORPHA:588 |
Jalili Syndrome |
|
Abnormal dental enamel morphology, Optic atrophy, Amelogenesis imperfecta, Abnormality of retinal... |
ORPHA:1873 |
Stt3B-Cdg |
|
Optic atrophy, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Megalocornea-Intellectual Disability Syndrome |
|
Protruding ear, Hypercholesterolemia, EEG abnormality, Sensorineural hearing impairment |
ORPHA:2479 |
Retinitis Pigmentosa |
|
Optic atrophy, Conductive hearing impairment, Obesity, Attenuation of retinal blood vessels, Hype... |
ORPHA:791 |
Angelman Syndrome |
|
Self-injurious behavior, Precocious puberty in females, Fair hair, Delayed menarche, Inappropriat... |
ORPHA:72 |
Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight, Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
Retinitis Pigmentosa 25 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:602772 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Rod-cone dy... |
OMIM:612674 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Cockayne Syndrome A |
|
Optic atrophy, Atypical scarring of skin, Pigmentary retinopathy, Abnormal auditory evoked potent... |
OMIM:216400 |
Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Optic atrophy, Retinal arteriolar constriction |
OMIM:249660 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Optic disc pallor, Flexion con... |
OMIM:609541 |
Trisomy 18P |
|
Attention deficit hyperactivity disorder, Highly arched eyebrow, Polyphagia |
ORPHA:1715 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Highly arched eyebrow, Bruxism, Long eyelashes, Thick eyebrow, Inappropr... |
OMIM:156200 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
Madras Motor Neuron Disease |
|
Tinnitus, Optic atrophy, Facial palsy, Sensorineural hearing impairment |
ORPHA:137867 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity |
ORPHA:440727 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613756 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Multiple joint contractures, Decreased number of peripheral myelinated nerve fiber... |
ORPHA:320406 |
Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... |
ORPHA:79444 |
Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Facial paralysis, Failure to thrive, Hearing impairment, Pancytopenia, Hypocalcemi... |
OMIM:259700 |
Castleman Disease |
|
Anemia, Weight loss, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Dec... |
ORPHA:160 |
Retinitis Pigmentosa 72 |
|
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... |
OMIM:616469 |
Weaver Syndrome |
|
Joint contracture of the hand, Fine hair, Umbilical hernia, Inguinal hernia, Polyphagia, Camptoda... |
OMIM:277590 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Sensorineural h... |
OMIM:300972 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
Mevalonic Aciduria |
|
Low-set ears, Failure to thrive, Fluctuating splenomegaly, Failure to thrive in infancy, Hepatosp... |
OMIM:610377 |
N-Acetylglutamate Synthase Deficiency |
|
Hypothermia, Hyperammonemia, Hyperglutamatemia, Aggressive behavior, Hyperglutaminemia, Low plasm... |
OMIM:237310 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hypona... |
ORPHA:275761 |
Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Sparse body hair, Abnormal hair morphology, Generalized lipo... |
ORPHA:79474 |
Cockayne Syndrome B |
|
Optic atrophy, Atypical scarring of skin, Pigmentary retinopathy, Abnormal auditory evoked potent... |
OMIM:133540 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypertaurinemia, Hyperglycinemia, Hypothermia, Hypoglycemia |
OMIM:245400 |
Pancreatic And Cerebellar Agenesis |
|
Low-set ears, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue... |
OMIM:609069 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... |
OMIM:613581 |
Adnp Syndrome |
|
Abnormal temper tantrums, High anterior hairline, Oral-pharyngeal dysphagia, Umbilical hernia, In... |
ORPHA:404448 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... |
OMIM:615962 |
Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... |
OMIM:300942 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... |
ORPHA:101085 |
Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Cranial nerve compression, Hepatos... |
OMIM:259710 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Papilledema, Thrombocytopenia, Small for gest... |
OMIM:618775 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Optic atrophy, Low-set ears, Hypoglycemia |
OMIM:608688 |
7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Horizontal eyebrow, Sparse anterior scalp hair, Long eyelashes, Inguinal... |
ORPHA:96121 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Hypoglycemia |
OMIM:610006 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy |
ORPHA:1021 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemi... |
ORPHA:79259 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... |
OMIM:613810 |
Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... |
OMIM:131100 |
Juvenile Glaucoma |
|
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... |
ORPHA:98977 |
Luscan-Lumish Syndrome |
|
Polyphagia, High anterior hairline, Aggressive behavior, Hirsutism |
OMIM:616831 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypoglycemia, Umbilical hernia, Hypopituitarism, Decreased circulati... |
ORPHA:226307 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... |
ORPHA:79443 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... |
OMIM:600132 |
Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... |
ORPHA:79330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Low-set ears, Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of... |
OMIM:614643 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Mildly elevated creatine kinase, Elevat... |
ORPHA:95433 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... |
ORPHA:485421 |
Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level |
OMIM:103900 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating renin level, ... |
ORPHA:320 |
Mpdu1-Cdg |
|
Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia, Elevated circulating creati... |
ORPHA:79323 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Peripheral demyelination, Short-segment ... |
OMIM:609136 |
Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... |
ORPHA:97214 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Vestibular areflexia, Multiple joint contractures, Sensorineural hearing impairment |
ORPHA:504476 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:159 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... |
ORPHA:186 |
Wolfram Syndrome 2 |
|
Optic atrophy, Optic neuropathy, Diabetes mellitus, Sensorineural hearing impairment |
OMIM:604928 |
Leber Optic Atrophy |
|
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy |
OMIM:535000 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Fine hair, Self-mutilation, Polyphagia, Aggressive behavior, Sparse hair |
ORPHA:251028 |
Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Peripheral demyelination, EEG abnorma... |
ORPHA:206448 |
Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... |
ORPHA:54595 |
Retinitis Pigmentosa 60 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:613983 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Optic atrophy, Failure to thrive, Hearing impairment, Corneal scarring, Attenuat... |
OMIM:610965 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Tinnitus, Decreased circulating renin level, Glucocortocoid-insensitive primary hype... |
ORPHA:231632 |
Friedreich Ataxia |
|
Optic atrophy, Decreased amplitude of sensory action potentials, Decreased sensory nerve conducti... |
OMIM:229300 |
Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Elevated circulating glutaric acid concentration, Normochromic microcytic anemia, ... |
ORPHA:66634 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
OMIM:218700 |
Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
Nestor-Guillermo Progeria Syndrome |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Nail dystrophy, Sparse eyelashes, Flexion contractur... |
OMIM:614008 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Pulmonary carcinoid tumor, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia |
ORPHA:363618 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Optic atrophy, Failure to thrive, Hypoglycemia, Sensorineural hearing impairment... |
OMIM:618329 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Underdeveloped superior crus of antihelix, Insulin-resistant diabetes mellitus, Microcytic anemia... |
ORPHA:293967 |
Coenzyme Q10 Deficiency, Primary, 5 |
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Hyperalaninemia, Hypothermia |
OMIM:614654 |
Oculocerebrorenal Syndrome Of Lowe |
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Atypical scarring of skin, Failure to thrive, Umbilical hernia, Hyperaldosteronism, Abnormal dent... |
ORPHA:534 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... |
ORPHA:364055 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
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Optic atrophy, Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia... |
OMIM:251900 |
Retinitis Pigmentosa 66 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Tinnitus, G... |
ORPHA:231625 |
Osteopetrosis, Autosomal Recessive 5 |
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Optic atrophy, Undetectable visual evoked potentials, Extramedullary hematopoiesis, Hepatosplenom... |
OMIM:259720 |
Timothy Syndrome |
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Hypothyroidism, Hypothermia, Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Decreased circulating renin level |
OMIM:605115 |
Atelis Syndrome 2 |
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Low-set ears, Hyperinsulinemia, Protruding ear, Vitreous hemorrhage, Remnants of the hyaloid vasc... |
OMIM:620185 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality |
OMIM:607485 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hypothermia, Hypocalcemia,... |
ORPHA:26793 |
Kenny-Caffey Syndrome, Type 2 |
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Hyperphosphatemia, Hypocalcemia, Papilledema, Transient hypophosphatemia, Anemia, Retinal calcifi... |
OMIM:127000 |
Keppen-Lubinsky Syndrome |
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Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcutaneous fat, Flexion ... |
OMIM:614098 |
Liddle Syndrome 2 |
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Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
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Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Wagro Syndrome |
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Compulsive behaviors, Polyphagia, Aggressive behavior, Agitation |
OMIM:612469 |
Isolated Complex I Deficiency |
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Failure to thrive, Hypoglycemia, Sensorineural hearing impairment, Optic disc pallor, Increased s... |
ORPHA:2609 |
Primary Unilateral Adrenal Hyperplasia |
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Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Tinnitus, Decreased circulati... |
ORPHA:231580 |
Meningococcal Meningitis |
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Elevated circulating C-reactive protein concentration, Increased circulating procalcitonin concen... |
ORPHA:33475 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Low-set ears, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Elevate... |
ORPHA:79282 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran... |
ORPHA:404454 |
Liddle Syndrome 1 |
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Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Optic atrophy, Motor axonal neuropathy, Decreased circulating cortisol level, Orthostatic hypoten... |
OMIM:231550 |
Pseudohypoaldosteronism, Type Iic |
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Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Menkes Disease |
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Alopecia, Hypothermia, Brittle hair, Decreased circulating ceruloplasmin concentration, Sparse hair |
OMIM:309400 |
Trisomy 10P |
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Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... |
ORPHA:171929 |
Primary Erythromelalgia |
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Hypothermia |
ORPHA:90026 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Optic atrophy, Pigmentary retinopathy, Retinal dysplasia, Elevated circulating creatine kinase co... |
OMIM:613154 |
Hyperaldosteronism, Familial, Type Iii |
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Hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Self-injurious behavior, Fixated interests, Umbilical hernia, Hypocalcemia, Hair-pulling, Polypha... |
OMIM:620330 |
Chromosome 22Q13 Duplication Syndrome |
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Polyphagia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:615538 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Failure to thrive, Splenomegaly, Macrocytic anemia, Optic disc pallor, Hemolyt... |
OMIM:615512 |
Mend Syndrome |
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Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cholestenol, ... |
ORPHA:401973 |
Dopamine Beta-Hydroxylase Deficiency |
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Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Spontaneous Periodic Hypothermia |
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Hypothermia |
ORPHA:29822 |
Menkes Disease |
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Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Inguinal hernia, Hy... |
ORPHA:565 |
Persistent Hyperplastic Primary Vitreous |
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Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... |
ORPHA:91495 |
Developmental And Epileptic Encephalopathy 78 |
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Hypothermia |
OMIM:618557 |
Retinitis Pigmentosa 74 |
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Optic disc pallor, Pigmentary retinopathy, Obesity, Rod-cone dystrophy |
OMIM:616562 |
Rett Syndrome |
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Failure to thrive, Increased serum leptin, Cholecystitis, Hyperammonemia, Increased serum pyruvate |
ORPHA:778 |
Glaucoma, Primary Closed-Angle |
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Increased cup-to-disc ratio |
OMIM:618880 |
Full Nf2-Related Schwannomatosis |
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Abnormal optic nerve morphology, Peripheral schwannoma, Bilateral vestibular schwannoma, Neuroma,... |
ORPHA:637 |
Alagille Syndrome 1 |
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Low-set ears, Pigmentary retinopathy, Failure to thrive, Chorioretinal atrophy, Hypercholesterole... |
OMIM:118450 |
Helsmoortel-Van Der Aa Syndrome |
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High anterior hairline, Decreased response to growth hormone stimulation test, Bruxism, Polyphagi... |
OMIM:615873 |
Lowe Oculocerebrorenal Syndrome |
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Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr... |
OMIM:309000 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Optic atrophy, Type I diabetes mellitus, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepat... |
OMIM:615688 |
Pierson Syndrome |
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Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... |
OMIM:609049 |
Fuchs Heterochromic Iridocyclitis |
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Chorioretinal scar, Epiretinal membrane, Retinal perforation, Vitreous floaters, Papilledema, Opt... |
ORPHA:263479 |
Stankiewicz-Isidor Syndrome |
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Low-set ears, Abnormal optic disc morphology, Hearing impairment |
OMIM:617516 |
Orthostatic Hypotension 1 |
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Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen, Elevated circulating dih... |
OMIM:223360 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
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Elbow flexion contracture, Hypothermia, Hip contracture |
OMIM:618493 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Hypoglycemia, Hypothermia, Aggressive behavior, Flexion contracture, Methylmalonic acidemia |
ORPHA:17 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Hypothermia |
OMIM:616501 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Recurrent hypoglycemia, Hypothermia, Hyperuricemia, Hyperammonemia, Nonketotic hypoglycemia, Anor... |
ORPHA:20 |
1P36 Deletion Syndrome |
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Self-injurious behavior, Horizontal eyebrow, Camptodactyly of finger, Hypogonadism, Abnormal eyeb... |
ORPHA:1606 |
Osteopetrosis With Renal Tubular Acidosis |
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Optic atrophy, Conductive hearing impairment, Failure to thrive, Cranial nerve compression, Pancy... |
ORPHA:2785 |
Xq21 Microdeletion Syndrome |
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Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Reticular pigmen... |
ORPHA:1435 |
Oculo-Palato-Cerebral Syndrome |
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Thickened helices, Retinal detachment, Remnants of the hyaloid vascular system, Macrotia |
ORPHA:2714 |
Steinert Myotonic Dystrophy |
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Insulin resistance, Hyperinsulinemia, Facial diplegia, Peripheral axonal neuropathy, Hypercholest... |
ORPHA:273 |
Peroxisome Biogenesis Disorder 1B |
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Optic atrophy, Hyperoxaluria, Rod-cone dystrophy, Sensorineural hearing impairment |
OMIM:601539 |
Norrie Disease |
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Optic atrophy, Abnormal helix morphology, Failure to thrive, Macrotia, Sensorineural hearing impa... |
ORPHA:649 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level |
OMIM:615474 |
Alexander Disease |
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Precocious puberty, Self-injurious behavior, Hypothermia, Hypothyroidism, Dysphagia, Diabetes mel... |
ORPHA:58 |
Osteopetrosis, Autosomal Recessive 7 |
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Optic atrophy, Optic nerve compression, Splenomegaly, Anemia, Hypocalcemic seizures |
OMIM:612301 |
Temtamy Preaxial Brachydactyly Syndrome |
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Low-set ears, Abnormal optic disc morphology, Severe sensorineural hearing impairment, Optic atrophy |
ORPHA:363417 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Horizontal eyebrow, Camptodactyly of finger, Congenital hypothyroidism, Abnormality of the hairli... |
OMIM:607872 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
Leber Congenital Amaurosis 15 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... |
OMIM:613843 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
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Hypothermia |
ORPHA:168593 |
Occipital Horn Syndrome |
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Atypical scarring of skin, Keloids, Coarse hair, Inguinal hernia, Hypothermia, Hiatus hernia, Sca... |
ORPHA:198 |
Alström Syndrome |
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Insulin resistance, Precocious puberty in females, Frontal balding, Elevated circulating thyroid-... |
ORPHA:64 |
Tbck-Related Intellectual Disability Syndrome |
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Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ... |
ORPHA:488632 |
Norrie Disease |
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Optic atrophy, Sensorineural hearing impairment, Retinal detachment, Retinal fold, Retinal dysplasia |
OMIM:310600 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hypoalbuminemia, Low-set ears, Failure to thrive, Hearing impairment, Increased circulating ferri... |
OMIM:619534 |
Neuroleptic Malignant Syndrome |
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Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypothermia, Hypocalcemia, Hyperuricemia, Eleva... |
ORPHA:94093 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia, Hypothermia |
ORPHA:292 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol... |
ORPHA:90793 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Dystrophic toenail, Delayed menarche, Alopecia totalis, Absence of subcutaneo... |
ORPHA:740 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Anemia, Retinal calcification, Hypocalcemic ... |
ORPHA:93325 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Optic atrophy, Leukocytosis, Abdominal obesity, Flexion contracture, Azotemia, Retinal dystrophy,... |
OMIM:619321 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Atypical scarring of skin, Fasciitis, Corneal scarring, Hypothermia, Self-mutilation, Hyperactivi... |
ORPHA:642 |
Acromelic Frontonasal Dysostosis |
|
Low-set ears, Midline central nervous system lipomas, Tubulonodular pericallosal lipoma, Remnants... |
OMIM:603671 |
Microphthalmia, Syndromic 2 |
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Anteverted ears, Iris coloboma, Cupped ear, Umbilical hernia, Asymmetry of the ears, Contracture ... |
OMIM:300166 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Optic neuropathy |
ORPHA:391665 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Chorioretinal scar, Choroidal neovascularization, Macular edema, Elevated circ... |
ORPHA:91500 |
Sympathetic Ophthalmia |
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Macular edema, Hearing impairment, Vitreous floaters, Tinnitus, Papilledema, Retinal detachment, ... |
ORPHA:79098 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level |
ORPHA:90795 |
Ethylene Glycol Poisoning |
|
Cyanosis, Hypothermia, Hypocalcemia, Addictive alcohol use, Hyperkalemia |
ORPHA:31826 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set ears, Failure to thrive, Low-set, posteriorly rotated ears, Abnormal optic disc morpholog... |
ORPHA:397715 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Cyanosis, Hypothermia |
ORPHA:90051 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hearing impairment, Retinal coloboma, Abnormal optic disc morphology, Coloboma, Facial palsy, Iri... |
ORPHA:508498 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hyperalaninemia, Low plasma citrulline, Dysphagia, Hypothermia |
ORPHA:255210 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Decreased circulating iron concentration, High anterior hairline, Increased c... |
ORPHA:438213 |
Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hy... |
ORPHA:99826 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level |
OMIM:202010 |
Neuroocular Syndrome 1 |
|
Low-set ears, Cupped ear, Umbilical hernia, Anterior creases of earlobe, Hypoplasia of the fovea,... |
OMIM:619539 |
Sarcoidosis |
|
Alopecia, Hypothermia, Scarring, Hypothyroidism, Abnormality of the adrenal glands, Hyperthyroidi... |
ORPHA:797 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Hypoglycemia, Decreas... |
OMIM:201750 |
Holoprosencephaly 2 |
|
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |