Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Liberfarb Syndrome |
|
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Opti... |
OMIM:618889 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:603649 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy, Recurrent otitis media, Obesity, Hearing impairment, Hy... |
OMIM:615993 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular flecks, Macular atrophy |
OMIM:600110 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment, Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... |
ORPHA:71526 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Polycystic ovaries, Diabetes mellitus,... |
ORPHA:79084 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology, Retinal degeneration, Increased neuronal autofluoresce... |
OMIM:601780 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Choroideremia, Chorioretinal atrophy, Incomplete partition of the ... |
OMIM:303110 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t... |
ORPHA:71529 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat... |
ORPHA:791 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Abnormal nervous system electrophysiology, Cerebral atrophy, Retinal degeneration, Increased extr... |
OMIM:204500 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... |
OMIM:615990 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Usher Syndrome, Type Iv |
|
Sensorineural hearing impairment, Retinal degeneration, Retinal atrophy, Bone spicule pigmentatio... |
OMIM:618144 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Type II diabetes mellitus, Retinal degeneration, Pigmentary ret... |
OMIM:520000 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:614322 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Hearing impairment, Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy |
OMIM:619090 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
EEG abnormality, Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy, Optic ... |
OMIM:610951 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Hyperinsulinemia, Type II ... |
ORPHA:3085 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive... |
ORPHA:411593 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Obesity, Hypogonadism |
OMIM:615988 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Retinal degeneration, Elevated circu... |
OMIM:300438 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
EEG abnormality, Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Inc... |
OMIM:256730 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... |
ORPHA:324575 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:615989 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:616211 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Large earlobe, Sensorineural hearing impairment, Macular degeneration |
OMIM:612948 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy |
OMIM:610156 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Retinal detachment, Insulin-resistant diabetes mellitus, Primary gonadal in... |
ORPHA:436182 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Cerebral atrophy, Increased extra... |
OMIM:204200 |
Morm Syndrome |
|
Truncal obesity, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... |
OMIM:616188 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Poly... |
OMIM:604367 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Dysphagia, Low-set ears, Bilateral sen... |
OMIM:264470 |
Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Retinal degeneration, Small for gestationa... |
OMIM:275400 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Smith-Magenis Syndrome |
|
EEG abnormality, Abnormality of the thyroid gland, Morphological abnormality of the middle ear, R... |
OMIM:182290 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Hypogonadism, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615987 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Sensorineural hearing impairment, Obesity, Cerebral atrophy, Retinal dystrophy |
OMIM:616756 |
Alg6-Cdg |
|
Failure to thrive, Retinal degeneration, Rod-cone dystrophy, Decreased LDL cholesterol concentrat... |
ORPHA:79320 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Leptin Receptor Deficiency |
|
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... |
OMIM:614963 |
Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:615983 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... |
ORPHA:181393 |
Bardet-Biedl Syndrome 22 |
|
Rod-cone dystrophy, Large for gestational age, Polyphagia, Macular hypopigmentation, Hypogonadism... |
OMIM:617119 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... |
OMIM:619389 |
Cofs Syndrome |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Cerebral cortical atrophy,... |
ORPHA:1466 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Generalized ... |
OMIM:612526 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Increased neuronal autofluorescent lipopigment, Abnormal nervous system electrophysiology, Retina... |
OMIM:256731 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Attenuation of retinal blood vessels, Pigmentary retinopathy, O... |
OMIM:204000 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy, Rod-cone dystrophy |
OMIM:551500 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Kearns-Sayre Syndrome |
|
Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism |
ORPHA:480 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Type II diabetes mellitus |
ORPHA:2579 |
Ramon Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Failure to thrive, Abnormality o... |
ORPHA:3019 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... |
OMIM:608161 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity |
OMIM:618160 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Pigmentary retinopathy |
OMIM:609016 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Retinal degeneration, Rod-cone dystrophy, Hypogonadism |
OMIM:615982 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... |
OMIM:251270 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Trunc... |
OMIM:615986 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis |
OMIM:615703 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:602271 |
Leber Congenital Amaurosis |
|
Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy |
OMIM:615147 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Neonatal Adrenoleukodystrophy |
|
Sensorineural hearing impairment, Wide anterior fontanel, Abnormality of retinal pigmentation, EE... |
ORPHA:44 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... |
OMIM:617406 |
Narp Syndrome |
|
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pa... |
ORPHA:644 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of the outer ear, Abnormality of retinal pigmentation |
ORPHA:2515 |
Oculopharyngodistal Myopathy 3 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Elevated circulating creatine ki... |
OMIM:619473 |
Optic Atrophy 8 |
|
Optic atrophy, Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Dysplasia Epiphysealis Hemimelica |
|
Overgrowth |
OMIM:127800 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Lipodystrophy, Increased intraabdominal... |
ORPHA:79085 |
Canavan Disease |
|
Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation, EEG abnormality |
ORPHA:141 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea... |
OMIM:613877 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Obesity |
OMIM:614947 |
Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Diabetes mellitus |
OMIM:615981 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Pigmentary retinopathy |
OMIM:617613 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Sensorineural hearing impairment, Retinal degeneration |
OMIM:616896 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Retinal degeneration, Rod-cone dystrophy, Hyperammonemia, Cerebr... |
ORPHA:391428 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Retinal atrophy, I... |
OMIM:610127 |
Diprosopus |
|
Abnormality of retinal pigmentation, External ear malformation |
ORPHA:1681 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Degeneration of the latera... |
OMIM:604360 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Cerebellar atrophy, Hypergastrinemia |
OMIM:252650 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, D... |
OMIM:249270 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... |
OMIM:144300 |
Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Overweight, Hyp... |
OMIM:616222 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Diabetes mellitus |
OMIM:144800 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, ... |
ORPHA:435651 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Decreased response to growth hormone stimulation test, Retinal degeneration |
OMIM:225755 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Excessive insu... |
ORPHA:276556 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus, Hearing imp... |
ORPHA:2801 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Decreased body weight, Failure to thrive, Abnormal ... |
ORPHA:99852 |
Niemann-Pick Disease, Type B |
|
Abnormal macular morphology, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Incre... |
OMIM:607616 |
Ring Chromosome 14 Syndrome |
|
Low-set ears, Pigmentary retinopathy |
OMIM:616606 |
Abcd Syndrome |
|
Large for gestational age, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked pot... |
OMIM:600501 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Retinal degeneration, Brain atrophy, Cerebral atrophy, Attenuat... |
OMIM:619260 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Decreased adiponectin... |
OMIM:615238 |
Halothane Hepatitis |
|
Obesity, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysphagia, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Neutral Lipid Storage Disease With Myopathy |
|
Sensorineural hearing impairment, Hypertriglyceridemia, Elevated circulating creatine kinase conc... |
OMIM:610717 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hepatomegaly, Polycystic ovaries, Loss of gluteal subcu... |
ORPHA:435660 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Spinocerebellar atrophy, Elevated alpha-fetoprotein, Conjunctival telangiectasia, Optic atrophy, ... |
ORPHA:95433 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypo... |
ORPHA:897 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... |
OMIM:613750 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, Abnormal retinal vascular... |
ORPHA:1390 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Otitis media, Hypergonad... |
OMIM:203800 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Large fleshy ears, Abnormal pinna morphology, Congenital stationary night blindness, Cerebral cor... |
ORPHA:352530 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Elevated levels of phytanic acid, Retinal degeneration, Rod-con... |
OMIM:266500 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Lipodystrophy, Diabetes mellitus, Insulin resistance, Hepatic steatosis |
OMIM:615980 |
Congenital Toxoplasmosis |
|
Hearing impairment, Abnormality of retinal pigmentation, Failure to thrive in infancy |
ORPHA:858 |
Perlman Syndrome |
|
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Inguinal hernia, Tall stature, Femo... |
ORPHA:2849 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Failure to thrive, Hearing impairment, Pigmentary retinopathy |
ORPHA:255241 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation |
ORPHA:2743 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy |
OMIM:616171 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Cryptorchidism, Hypogonadism |
ORPHA:85274 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Dysphagia, Hearing impairment, Pigmentary retinopathy |
ORPHA:329336 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism |
OMIM:309585 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Proportionate t... |
ORPHA:528 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Vertigo, Pulsatile tinnitus, Obesity |
ORPHA:238624 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Optic disc pallor, Retrobulbar ... |
OMIM:619737 |
Achromatopsia 7 |
|
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Abnormal helix morphology |
ORPHA:1259 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:615996 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... |
OMIM:606069 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stationary night blindness, Abnormali... |
ORPHA:90646 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Sensorineural hearing impairment, Cerebral atrophy, Retinal dystrophy, Obesity, Puberty and gonad... |
ORPHA:464282 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:619048 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, EEG abnormality, Precocious puberty, Retinal detachment, Chronic o... |
ORPHA:819 |
Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:613660 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,... |
ORPHA:1435 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, EEG abnormality, Low-set, posteriorly rotated ears, Delayed puberty |
ORPHA:2139 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentration, H... |
OMIM:615558 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate |
OMIM:264420 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... |
ORPHA:79264 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy, Truncal obesity, Hypogonadism |
OMIM:268050 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... |
OMIM:619755 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Abnormal ear morphology |
OMIM:618010 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Retinal Venous Beading |
|
Vitreous hemorrhage, Retinal neovascularization, Hearing impairment, Retinal infarction, Abnormal... |
OMIM:180080 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:616829 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Bardet-Biedl Syndrome 7 |
|
Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:615984 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Sensorineural hearing impairment, Failure to thrive, Retinal degeneration, Retinopathy, Hydroxypr... |
OMIM:239000 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy |
OMIM:617304 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Obesity |
OMIM:300310 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Dysphagia... |
OMIM:617519 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Low-set, posteriorly rotated ears, Pigmentary retinopathy, Hypogonadism,... |
ORPHA:110 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Hypergonadotropic hypogonadism, Pigmentary retinopathy, Elevated levels of ph... |
OMIM:614307 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... |
ORPHA:2298 |
Oguchi Disease |
|
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy |
ORPHA:75382 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, B... |
OMIM:615994 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis |
OMIM:300270 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Cerebra... |
ORPHA:370968 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
Leigh Syndrome |
|
Optic atrophy, Failure to thrive, Sensorineural hearing impairment, Pigmentary retinopathy |
OMIM:256000 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Wolfram Syndrome 1 |
|
Sensorineural hearing impairment, Testicular atrophy, Cerebral atrophy, Pigmentary retinopathy, O... |
OMIM:222300 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Retinitis Punctata Albescens |
|
Congenital sensorineural hearing impairment, Absent foveal reflex, Cystoid macular edema, Abnorma... |
ORPHA:52427 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Zika Virus Disease |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... |
ORPHA:448237 |
Central Precocious Puberty |
|
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... |
ORPHA:759 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Retinal deg... |
OMIM:615249 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Congenital Rubella Syndrome |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Type I diabetes mellitus |
ORPHA:290 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type II diabetes mellitus, Abnormal motor evoked potentials, Delayed menarche, Parietal cortical ... |
ORPHA:412057 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased carnitine... |
OMIM:212140 |
Vici Syndrome |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Cerebral cortical atrophy,... |
ORPHA:1493 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Protruding ear, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:2518 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Abnormality of the ear, Cerebral atrophy, Rod-cone dystrophy, Hypergonadotropic hypogonadism, Pig... |
OMIM:268020 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Glycosuria, Optic atrophy, Optic disc pallo... |
OMIM:268315 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... |
OMIM:246200 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Brain atrophy, Cerebral atrophy, Retinal degeneration, Optic atrophy, EEG with... |
ORPHA:442835 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy |
OMIM:212550 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulation test, Hypergona... |
OMIM:606407 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Abnormality of the hypothalam... |
ORPHA:1173 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... |
ORPHA:79319 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... |
ORPHA:816 |
11P15.4 Microduplication Syndrome |
|
Obesity, Posteriorly rotated ears, Macrotia |
ORPHA:300305 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Sensorineural hearing impairment, Decreased body weight, Rod-cone dystrophy, Abetalipoproteinemia... |
ORPHA:96180 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormal calcium-phosphate regulating hormone level, Abnormality of retinal pig... |
ORPHA:2196 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Cholestasis, Elevated hepatic transaminase, Portal f... |
OMIM:614300 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis |
OMIM:601466 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Galactokinase Deficiency |
|
Sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Small for gestational age,... |
ORPHA:79237 |
Mucopolysaccharidosis Type 2 |
|
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Abnormality of ret... |
ORPHA:580 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Retinal coloboma, Obesity, Rod-cone dystrophy, Hypogonadism |
ORPHA:363741 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Failure to thrive, Pigmentary retinopathy, Type I dia... |
OMIM:560000 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Bardet-Biedl Syndrome 1 |
|
Abdominal obesity, Nephrogenic diabetes insipidus, Diabetes mellitus, Retinal degeneration, Rod-c... |
OMIM:209900 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
6Q16 Microdeletion Syndrome |
|
Microtia, Polyphagia, Abnormal ear morphology, Obesity, Low-set ears |
ORPHA:171829 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Ddost-Cdg |
|
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... |
ORPHA:300536 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Hypogonadism, Lipodystrophy, Di... |
OMIM:615381 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Retinal degeneration, Aceruloplasminemia, Decreased... |
OMIM:604290 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Neuronal loss in central nervous system, Cerebral atrophy |
OMIM:615924 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:601794 |
Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Papilledema, ... |
ORPHA:54595 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Sensorineural hearing impairment, Retinal atrophy, Macular degeneration |
OMIM:617236 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Polycystic ovaries, Generalized lipodystrophy, Acute p... |
ORPHA:79086 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Decreased testicular size, Hypogonadism, Cryptorchidism |
ORPHA:261483 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Severe sensorineural hearing impairment, Obesity, Chorioretinal coloboma |
OMIM:600122 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Macrotia,... |
ORPHA:436245 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Obesity |
OMIM:614651 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... |
ORPHA:785 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Decreased serum leptin, Decreased testicular size, Hypogonadism |
OMIM:614962 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Brain atrophy, Hyperglycinemia, Pigmentary retinopathy |
OMIM:619059 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Arthrogryposis, Distal, Type 5 |
|
Protruding ear, Abnormality of retinal pigmentation |
OMIM:108145 |
Bardet-Biedl Syndrome 8 |
|
Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:615985 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Hypoglycemia, M... |
OMIM:300148 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:619386 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Cerebral cortical atrophy, Abnormality of the thyroid gland,... |
ORPHA:77296 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Hypocalcemia, Small for gestational age, Papilledema, Retinal calcification, ... |
OMIM:127000 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic ... |
OMIM:618805 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hyperc... |
ORPHA:254531 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Progressive sensorineural hearing impairment, Diabetes mellitus |
OMIM:172500 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Peroxisome Biogenesis Disorder 3B |
|
Sensorineural hearing impairment, Failure to thrive, Rod-cone dystrophy, Steatorrhea, Retinal dys... |
OMIM:266510 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity |
OMIM:616629 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pseudobulbar paralysis, Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal fleck... |
ORPHA:100996 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic... |
ORPHA:905 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... |
OMIM:256810 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Polycystic ovaries... |
ORPHA:90970 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis, Polycystic ovaries, Maternal di... |
ORPHA:79083 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613464 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis |
ORPHA:209919 |
Distal 16P11.2 Microdeletion Syndrome |
|
Rod-cone dystrophy, Retinal dystrophy, Hyperuricemia, Obesity, Aganglionic megacolon |
ORPHA:261222 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Decreased testicular size, Diabet... |
OMIM:610628 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Cerebra... |
OMIM:613156 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Polycystic ovaries, Lipodystro... |
ORPHA:2348 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Mehmo Syndrome |
|
Large earlobe, Obesity, EEG abnormality, Diabetes mellitus |
ORPHA:85282 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Brain atrophy, Abnormal retinal morphology on macular OCT, Polypha... |
ORPHA:251004 |
Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Glucose intolerance, Retinal degeneration, Impaired glucose tolerance |
OMIM:615630 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, EEG abnormality, Delayed puberty, Macrotia |
OMIM:301900 |
Abetalipoproteinemia |
|
Retinopathy, Abetalipoproteinemia, Retinal degeneration |
OMIM:200100 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepati... |
OMIM:278000 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Diabetes mellitus |
OMIM:605231 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Large earlobe, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic a... |
ORPHA:2715 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Cerebral cortical atrophy, Retinal degeneration, Rod-cone dy... |
ORPHA:166035 |
Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... |
OMIM:601596 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Cerebral atrophy, Retinal degeneration, EEG with spike-wave co... |
ORPHA:168491 |
Laurence-Moon Syndrome |
|
Obesity, Cryptorchidism, Type II diabetes mellitus, Congenital hepatic fibrosis |
ORPHA:2377 |
Macrocephaly/Autism Syndrome |
|
Obesity, Decreased circulating antibody level, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Sensorineural hearing impairment, Abno... |
ORPHA:585 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189427 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:269700 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormality of retinal pigmentation, Retinopathy, Chorioretinal atrophy, Hypok... |
ORPHA:5 |
Multiple Sulfatase Deficiency |
|
Hearing impairment, Cerebral atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:272200 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated circulating alanine aminotransferase concen... |
OMIM:261680 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cort |