Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
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, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Chromosome Xq21 Deletion Syndrome |
|
Chorioretinal degeneration, Choroideremia, Chorioretinal atrophy, Obesity, Conductive hearing imp... |
OMIM:303110 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology, Increased neuronal autofluorescent lipopigment, Retina... |
OMIM:601780 |
Bardet-Biedl Syndrome 16 |
|
Obesity, Hypogonadism, Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration, Hearing ... |
OMIM:615993 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... |
ORPHA:71529 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ... |
ORPHA:791 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... |
OMIM:204500 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... |
OMIM:300438 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ... |
OMIM:520000 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy, Hearing impairment |
OMIM:619090 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:614322 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, EEG abnormality, Neu... |
OMIM:610951 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Abnorm... |
OMIM:182290 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Sensorin... |
ORPHA:3085 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Retinopathy, Obesity |
OMIM:615988 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera... |
OMIM:256730 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... |
OMIM:204200 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Retinal detachment, Insulin-resistant diabetes mellitus, Hypertrig... |
ORPHA:436182 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Hypogonadotropic hypogonadism, Small for gestational age, Decreased respon... |
OMIM:275400 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615987 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Pigmentary reti... |
ORPHA:3363 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615995 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Alg6-Cdg |
|
Failure to thrive, Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increa... |
ORPHA:79320 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Sensorineural hearing impairment, Retinal dystrophy, Obesity, Cerebral atrophy |
OMIM:616756 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Low-set ears, ... |
OMIM:264470 |
Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopathy, Eye ... |
OMIM:204000 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy, P... |
OMIM:617119 |
Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615983 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... |
OMIM:619389 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... |
OMIM:608709 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes... |
ORPHA:276575 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Hypogonadis... |
ORPHA:1466 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Anterior hypopituitarism, Hearing impairment |
ORPHA:480 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Type II diabetes mellitus |
ORPHA:2579 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Optic atrophy, Obesity, Hearing impairment |
OMIM:614651 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... |
OMIM:612526 |
Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... |
ORPHA:79085 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Abnormal nervous system elect... |
OMIM:256731 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Hypoglycemia, Optic atrophy, Cerebral atrophy, Hyperammon... |
ORPHA:391428 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity |
OMIM:615703 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Sensorineural hearing impairment, Conduct... |
ORPHA:3019 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Hypogonadism, Obesity, Retinal degeneration |
OMIM:615982 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Rod... |
OMIM:615986 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Hypoglycemia |
OMIM:609016 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:608895 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentation, Retinal dystrophy, Ch... |
OMIM:251270 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impairment |
ORPHA:65 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Wide anterior fontanel, S... |
ORPHA:44 |
Dysplasia Epiphysealis Hemimelica |
|
Overgrowth |
OMIM:127800 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
Oculopharyngodistal Myopathy 3 |
|
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Pigmentary ... |
OMIM:619473 |
Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi... |
ORPHA:644 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the outer ear |
ORPHA:2515 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Sensorineural hearing impairment, Retinal degeneration |
OMIM:616896 |
Canavan Disease |
|
EEG abnormality, Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment |
ORPHA:141 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy |
OMIM:551500 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea... |
OMIM:613877 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac... |
OMIM:619260 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Obesity, Macular degeneration, Dysphagia, Cereb... |
OMIM:604360 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... |
OMIM:144300 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Hypergastrinemia, Retinal degeneration |
OMIM:252650 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy, Low-set ears |
OMIM:616606 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Elevated circulating creatine kinase concentration |
OMIM:617613 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Reti... |
OMIM:249270 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... |
ORPHA:52368 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435660 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Abnormal ear morphology, Aggressive behavior, Hypertriglyceridemia |
OMIM:618010 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... |
OMIM:610127 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Increase... |
OMIM:232700 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Aggressive behavior, Hearing impairment |
OMIM:620270 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... |
OMIM:617872 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Dysphagia |
OMIM:164500 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... |
OMIM:615238 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... |
OMIM:204100 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus, Hyperuricemia, Hearing imp... |
ORPHA:2801 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Sensorineural hearing impairment, Hypertriglyceridemia, Elevated circulating c... |
OMIM:610717 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypot... |
ORPHA:819 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergona... |
OMIM:203800 |
Ravine Syndrome |
|
Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Decr... |
ORPHA:99852 |
Diprosopus |
|
External ear malformation, Abnormality of retinal pigmentation |
ORPHA:1681 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Abnormal pinna morphology, Obesity, Congenital hypothyroidism, Large fleshy ears, Congenital stat... |
ORPHA:352530 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased circulat... |
OMIM:301045 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att... |
ORPHA:369873 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Obesity, Hypogonadism, Rod-cone dystrophy, Hearing impairment |
OMIM:615996 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular... |
ORPHA:1390 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Failure to thrive in infancy, Hearing impairment |
ORPHA:858 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... |
ORPHA:95433 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... |
ORPHA:263455 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... |
ORPHA:363400 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype... |
ORPHA:2849 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Sensorineural hear... |
OMIM:619737 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Abnormal thyroid morp... |
ORPHA:139507 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Elevated circulating phytanic acid concentr... |
OMIM:266500 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy, Dysphagia, Hearing impairment |
ORPHA:329336 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Vertigo, Pulsatile tinnitus, Obesity |
ORPHA:238624 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Pigmentary r... |
ORPHA:79264 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Impulsivity, Optic atrophy, Cerebral atrophy, Hypsarrhythmia, EEG with multifocal slow activity, ... |
ORPHA:442835 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypogonadism, Obesity |
ORPHA:85274 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Heterochromia iridis, Abnormality of the middle... |
ORPHA:90646 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... |
ORPHA:528 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Developmental And Epileptic Encephalopathy 28 |
|
Retinal degeneration, Optic atrophy, Cerebral atrophy |
OMIM:616211 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Temple Syndrome |
|
Hypertriglyceridemia, Posteriorly rotated ears, Small for gestational age, Maturity-onset diabete... |
OMIM:616222 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Abnormal helix morphology |
ORPHA:1259 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619048 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
Hernández-Aguirre Negrete Syndrome |
|
Low-set, posteriorly rotated ears, EEG abnormality, Obesity, Delayed puberty |
ORPHA:2139 |
11P15.4 Microduplication Syndrome |
|
Macrotia, Posteriorly rotated ears, Obesity, Aggressive behavior |
ORPHA:300305 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggre... |
ORPHA:580 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Retinal dystrophy, Puberty and gonadal disorders, Sensorineural hearing impairment, Obesity, Cere... |
ORPHA:464282 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Abnormal chorioretinal morphology, Decreased response to growth hormone stimula... |
ORPHA:1435 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity |
OMIM:610156 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Bardet-Biedl Syndrome 7 |
|
Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615984 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Pigmentary reti... |
OMIM:614307 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia |
ORPHA:26792 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Neuronal loss in central nervous system, Cerebral atrophy, Hypertriglyceridemia |
OMIM:615924 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy, Obesity |
OMIM:245800 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Hypoalbuminemia,... |
OMIM:607250 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... |
OMIM:301033 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Obesity, Pigmentary retinopathy, Hypoplasia of the ovary, Hypo... |
ORPHA:110 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Sensorineural hearing impairment, Hydroxyprolinemia, Angioid streaks of the fundus,... |
OMIM:239000 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, Corpus cal... |
ORPHA:168491 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment |
OMIM:234580 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Hypotonia-Cystinuria Syndrome |
|
Posteriorly rotated ears, Facial palsy, Decreased response to growth hormone stimulation test, Hy... |
OMIM:606407 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep... |
ORPHA:52427 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Hypothyroidism, Abnormal motor evok... |
ORPHA:412057 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy |
OMIM:616171 |
6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Obesity, Microtia, Abnormal temper tantrums, Low-set ears, Polyphagia |
ORPHA:171829 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Cerebral ... |
OMIM:222300 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Increased circulating IgG l... |
ORPHA:2298 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog... |
OMIM:615994 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Retinal deg... |
OMIM:615249 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... |
OMIM:300148 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy, Elevated circulating creatine ki... |
ORPHA:370968 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Leigh Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Failure to thrive, Optic atrophy |
OMIM:256000 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal t... |
OMIM:620155 |
Galactokinase Deficiency |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Sensorineural hearing im... |
ORPHA:79237 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Low-set ears |
OMIM:300209 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Abnormal... |
OMIM:268020 |
Mehmo Syndrome |
|
Diabetes mellitus, Obesity, Large earlobe, EEG abnormality, Agitation |
ORPHA:85282 |
Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... |
ORPHA:54595 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Retinal dystrophy, Obesity, Hyperuricemia, Attention deficit hyperactivity... |
ORPHA:261222 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... |
OMIM:268315 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:600151 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy, Protruding ear |
ORPHA:2518 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Abnormality of retinal pigmentation, Sensorineural hearing impairment |
ORPHA:290 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, EEG abnorma... |
ORPHA:1493 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Rod-cone dystrophy, Retinal coloboma, Obesity |
ORPHA:363741 |
Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... |
OMIM:604290 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe fail... |
OMIM:246200 |
Bardet-Biedl Syndrome 1 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Diabetes mellitus,... |
OMIM:209900 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Posteriorly rotated ears, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors... |
ORPHA:444002 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Abnormal circulating calcium-phosphate regulating hormone co... |
ORPHA:2196 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... |
ORPHA:300536 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Hypogonadism, ... |
ORPHA:1173 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Huntington Disease |
|
Caudate atrophy, Oral-pharyngeal dysphagia, Aggressive behavior, Cerebral atrophy, Weight loss, A... |
ORPHA:399 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Disinhibition, Inappropriate laughter, Neuronal loss in central ne... |
OMIM:600274 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... |
ORPHA:79319 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Rod-cone dystrophy, Retinal coloboma, Obesity |
OMIM:601794 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Leptin Deficiency Or Dysfunction |
|
Decreased testicular size, Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Eales Disease |
|
Optic disc pallor, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Sensorineural hearing impairment, Retinal atrophy |
OMIM:617236 |
Cln3 Disease |
|
Cerebellar atrophy, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Increased circula... |
ORPHA:228346 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Vertigo... |
ORPHA:77296 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Type I diabetes mellitus, Fai... |
OMIM:560000 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... |
OMIM:608594 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Recurrent otitis media, Hyperc... |
ORPHA:254531 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Macrotia, Low-set ears, Rod-c... |
ORPHA:436245 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Transient hypophosphatemia, Small for gestational age, Retinal c... |
OMIM:127000 |
Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Hypopigmentation of the skin, Precocious puberty in females, Fa... |
ORPHA:72 |
Bardet-Biedl Syndrome 8 |
|
Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615985 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... |
ORPHA:79086 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re... |
ORPHA:364055 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia, Brain atrophy |
OMIM:619059 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... |
ORPHA:2348 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Diabetes mellitus, Rod-cone dystrophy, Obesity |
OMIM:605231 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... |
ORPHA:79083 |
Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Impaired glucose tolerance, Obesity, Retinal degeneration |
OMIM:615630 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold, Protruding ear |
OMIM:108145 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Obesity, Abnormal retinal morphology on macular OCT, Brain atrophy, Increased bloo... |
ORPHA:251004 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:300310 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Borjeson-Forssman-Lehmann Syndrome |
|
EEG abnormality, Macrotia, Obesity, Delayed puberty |
OMIM:301900 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Diabetes mellitus, Pigmentary retinopathy, Pseudobulbar paralysis, Retinal flecks, Yellow/white l... |
ORPHA:100996 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Obesity, Macular degeneration, Hypogonadism, Rod-cone dystrophy |
OMIM:616629 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Chung-Jansen Syndrome |
|
Impulsivity, Aggressive behavior, Obesity, Large earlobe, Cafe-au-lait spot, Attention deficit hy... |
OMIM:617991 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Obesity, EEG abnormality, ... |
ORPHA:411515 |
Microtriplication 11Q24.1 |
|
Attached earlobe, Posteriorly rotated ears, Hyperlipidemia, Obesity, Bruxism, Hearing impairment |
ORPHA:289522 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Weight loss, Pigmentary retinopathy, Attention deficit hyperactivity disorder,... |
ORPHA:216866 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Macrotia, Cafe-au-lait spot, Low-set ears, Rod-cone dystroph... |
ORPHA:166035 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... |
ORPHA:2715 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Retinopathy, Retinal degeneration |
OMIM:200100 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Maternal diabetes, ... |
ORPHA:3157 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... |
OMIM:261680 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso... |
ORPHA:217085 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... |
OMIM:270200 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemia, Chorioretin... |
ORPHA:5 |
X-Linked Acrogigantism |
|
Abnormal optic chiasm morphology, Increased body mass index, Decreased thyroid-stimulating hormon... |
ORPHA:300373 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Retinal degeneration, Cerebral atrophy, Hearing impairment |
OMIM:272200 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Laurence-Moon Syndrome |
|
Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... |
ORPHA:369 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... |
ORPHA:231169 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso... |
ORPHA:217093 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy, Elevated circulating creatine ki... |
OMIM:613156 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Abnormality... |
ORPHA:585 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Decreased nerve con... |
OMIM:618733 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Adrenal calcification, Elevated circulati... |
OMIM:278000 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi... |
ORPHA:79476 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy |
OMIM:616881 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Obesity, Protruding ear, Low-set ears, Chronic otitis media, Hearing i... |
ORPHA:480907 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration |
ORPHA:370022 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Hepatic steatosis, Thyroid carcinoma, Multiple lipomas |
ORPHA:210548 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... |
OMIM:610628 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Obesity, Cerebral atrophy, Polyphagia, Self-mutilation |
OMIM:616521 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:189427 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Failure to thrive |
OMIM:618234 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Large for gestational age, Overgrowth, Aplasia/Hypoplasia of the optic ne... |
ORPHA:137634 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Retinal degeneration |
OMIM:277700 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Seckel Syndrome 10 |
|
Retinal detachment, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Hearing impairment |
OMIM:619074 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Retinal dystrophy, Sensorineural hearing impairment, Elevated circulating phyt... |
OMIM:266510 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Obesity, Hypogonadism, Low-set ears, Skin-picking, Pol... |
OMIM:615547 |
Cebalid Syndrome |
|
Abnormal pinna morphology, Posteriorly rotated ears, Low-set ears, Polyphagia, Hearing impairment |
OMIM:618774 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparath... |
ORPHA:93325 |
Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:609033 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Low-frequency sensorineural hearing impairment, Hyp... |
OMIM:613101 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Abetalipoproteinemia, Bull's eye maculopathy, Impulsivity, Optic atrophy, ... |
ORPHA:157850 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy, Low-set ears |
OMIM:608629 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic ... |
OMIM:610651 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, P... |
ORPHA:177910 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin ... |
ORPHA:769 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Global brain atrophy, Hypercholesterolemia, Hypoalbuminemia, Cerebellar vermis atrophy |
ORPHA:94124 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity |
OMIM:603233 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retinopathy |
ORPHA:71 |
Momo Syndrome |
|
Overgrowth, Underfolded helix, Obesity, Retinal coloboma |
OMIM:157980 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... |
ORPHA:96184 |
Trisomy 5P |
|
Obesity, Protruding ear |
ORPHA:1742 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypo... |
ORPHA:398079 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
White-Sutton Syndrome |
|
Failure to thrive, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive be... |
OMIM:616364 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Rod-cone dystrophy, Obesity |
OMIM:615633 |
Pendred Syndrome |
|
Abnormal vestibular function, Increased circulating thyroglobulin level, Congenital sensorineural... |
OMIM:274600 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Pick Disease Of Brain |
|
Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor... |
OMIM:172700 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Obesity, Male hypogonadism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-c... |
OMIM:619471 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy |
ORPHA:404451 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Macrotia, Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Low-set ears, Rod-cone dystrophy... |
OMIM:250410 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti... |
ORPHA:468678 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Macular atrophy, Hypoglycemia, Bilateral sens... |
OMIM:619418 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Congenital sensorineural hearing impairme... |
ORPHA:73272 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Impaired glucose tolera... |
OMIM:606721 |
Trisomy 18P |
|
Polyphagia, Abnormal pinna morphology, Facial palsy, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight |
ORPHA:890 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Large earlobe, Low-set ears |
OMIM:617752 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy, Obesity |
OMIM:612291 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Overweight, Atrophy of the spinal cord, Obesity, Dysphagia, Frontal cort... |
ORPHA:2822 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... |
OMIM:301013 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Optic atrophy, Retinal co... |
ORPHA:2510 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein con... |
ORPHA:116 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Iris hypo... |
ORPHA:231183 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Obesity |
OMIM:616562 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Sensorineural hearing impairment, Macrotia, Cerebral... |
OMIM:248500 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Retinopathy |
ORPHA:773 |
Birt-Hogg-Dubé Syndrome |
|
Parathyroid adenoma, Abnormality of retinal pigmentation, Medullary thyroid carcinoma |
ORPHA:122 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... |
OMIM:261750 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle... |
OMIM:613327 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Sensorineural hearing impairment, Primary adrenal insuffic... |
OMIM:530000 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Hyperthyroidism, Pigmentary retinopathy, Mildly elevated creatine kinase, Incr... |
ORPHA:502423 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Macular coloboma, Atrophy of the spinal ... |
ORPHA:79282 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Hypoplasia of the thymus, Abnorm... |
OMIM:214110 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Man1B1-Cdg |
|
Truncal obesity, Low-set ears, Multiple cafe-au-lait spots, Macrotia, Polyphagia |
ORPHA:397941 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macrotia, Bilateral sensorineural hearing impairment, Obesity |
OMIM:300238 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Decreased response to growth hormone stimulation test... |
ORPHA:529962 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Hepatic steatosis, Hypoketoti... |
OMIM:231530 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Macular degeneration, Dysphagia |
OMIM:619780 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Decre... |
ORPHA:42 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus |
ORPHA:1573 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepa... |
OMIM:602579 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Sensorineural hearing impairment, Hypoalbuminemia, Adrenal in... |
OMIM:617575 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Hypermelanotic macule, Optic atrophy, Pig... |
ORPHA:90321 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration, Abnormal autonomic nervous system physiology, Dysphagia, Cerebellar cortica... |
ORPHA:247234 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling, Low-set ears |
OMIM:617102 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Senso... |
ORPHA:193 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased... |
ORPHA:48818 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Incr... |
OMIM:617675 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Glycosuria, Fa... |
ORPHA:436271 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Hypothyroidism, Sensorineural hearing impairment, Obesity, Se... |
OMIM:600430 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl... |
OMIM:600649 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Restlessness |
OMIM:619517 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism |
ORPHA:261229 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Retinal degeneration |
ORPHA:79244 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... |
OMIM:240300 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis |
OMIM:201450 |
Usher Syndrome |
|
Abnormal vestibular function, Abnormality of retinal pigmentation, Sensorineural hearing impairme... |
ORPHA:886 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... |
ORPHA:94086 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Wilson-Turner Syndrome |
|
Truncal obesity, Microtia, Hypogonadotropic hypogonadism, Uplifted earlobe |
ORPHA:3459 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Increased sarcoplasmic glycogen, Splen... |
ORPHA:264580 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Abnormal neuron morphology, Aggressive behavior, Precocious puberty, EEG with gene... |
ORPHA:163681 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... |
ORPHA:206436 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:620185 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Rafiq Syndrome |
|
Aggressive behavior, Obesity, Truncal obesity, Low-set ears, Macrotia |
OMIM:614202 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Hyperactivity, Thickened helices, Abnormality of the middle ear ossicle... |
ORPHA:581 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Premature pubarche, Hypopigmentation of hair, Impulsivity, Precocio... |
ORPHA:398069 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy, EEG abnormality |
ORPHA:578 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... |
OMIM:616959 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight |
OMIM:620065 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Macular degeneration |
ORPHA:284289 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Biliary tract abnormality, Type II diabetes mellitus, Obesity |
ORPHA:3191 |
Momo Syndrome |
|
Underfolded helix, Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrow... |
ORPHA:2563 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Diabetes mellitus |
ORPHA:96 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment |
OMIM:166220 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Aggressive behavior, Obesity, Microtia, Low-set ears, Hearing impairment |
OMIM:619056 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... |
OMIM:216550 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se... |
ORPHA:88628 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Polyphagia,... |
ORPHA:96121 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Glycosuria, Failure to t... |
OMIM:220110 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion |
OMIM:618929 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... |
ORPHA:79303 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Abnormality of the middle ear, White forelock, Hearing impai... |
ORPHA:742 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... |
OMIM:300972 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai... |
OMIM:120330 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Posteriorly rotated ears, Aggressive behavior, Protruding ear, Low-set ears, Retinal degeneration |
OMIM:618479 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration, Hypsarrhythmia |
ORPHA:542306 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Neurodegeneration, Recurrent otitis media, Hear... |
OMIM:309900 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Posteriorly rotated ears, Adrenal hypoplasia, Brushfield spots, Wide anterior ... |
OMIM:214100 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, EEG abnormality |
ORPHA:1496 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Axial Spondylometaphyseal Dysplasia |
|
Rod-cone dystrophy, Optic atrophy, Peripheral retinal degeneration, Retinal dystrophy |
ORPHA:168549 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypogonadism, Obesity |
ORPHA:2233 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholester... |
ORPHA:2479 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... |
ORPHA:633 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Obesity, Microtia, Low-set ears, Tall stature |
OMIM:618089 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy, Dysphagia, Failure to thrive |
OMIM:617282 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... |
OMIM:613027 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Hepatic steat... |
OMIM:619013 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... |
OMIM:222100 |
Joubert Syndrome 6 |
|
Retinal degeneration, Abnormal repetitive mannerisms, Chorioretinal coloboma |
OMIM:610688 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Neuhauser Syndrome |
|
Cupped ear, Large fleshy ears, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, Cerebral ... |
OMIM:249310 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology |
ORPHA:314621 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, External ear malformation, Precocious puberty, Sensorineural hearing impairment, H... |
ORPHA:254346 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, EEG abnormality, Obesity, Hypoplasia of the ear cartilage |
ORPHA:1035 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Hyperpigmentation of the skin, Optic atrophy, Phonic tics, Pigmentary ... |
OMIM:234200 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Precocious puberty, Sensorineural hearing impairment, Optic atrophy, O... |
OMIM:201000 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... |
ORPHA:101330 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Increased serum beta-hexosaminidase, Retinal degeneration |
OMIM:252600 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Precocious puberty, Obesity |
ORPHA:254525 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hyponatremia, Hypertriglyceridemia, Hypo... |
ORPHA:167 |
Hurler Syndrome |
|
Recurrent otitis media, Neurodegeneration, Retinal degeneration, Hearing impairment |
OMIM:607014 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Axonal degeneration, Hypo... |
OMIM:208920 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... |
OMIM:256810 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity |
OMIM:612463 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Obesity, Compulsive behaviors, Low-... |
OMIM:618430 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concen... |
ORPHA:444490 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification |
ORPHA:75234 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Aggressive behavior, Pica, Obesity, Protruding ear, Large earlobe, Overfolded helix, Prominent an... |
OMIM:620191 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity, Hepatic steatosis |
ORPHA:412 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Cent... |
ORPHA:95427 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Sensorineural hearing impairment, Obesity, Type I diabetes mellitus, Retinopathy |
OMIM:619269 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Sensorineural hearing impairment, Obesity, Central nervous system degenerat... |
ORPHA:98907 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Disproportionate tall stature, Failure to thrive, Hepatic steatosis, Pancreatiti... |
OMIM:236200 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemi... |
OMIM:616267 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Pigmentary retinopathy, Delayed puberty, Hypopituit... |
OMIM:600462 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:610198 |
Alagille Syndrome 1 |
|
Failure to thrive, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy, Papillary... |
OMIM:118450 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Truncal obesity, Obesity, Hearing impairment |
OMIM:618363 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
Methanol Poisoning |
|
Hyperlipidemia, Abnormal optic nerve morphology, Type II diabetes mellitus, Addictive alcohol use... |
ORPHA:31825 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cerebral atrophy, Microtia, Obesity, Low-set ears |
ORPHA:171839 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Summitt Syndrome |
|
Camptodactyly of finger, Obesity, Tall stature |
ORPHA:3210 |
Cog4-Cdg |
|
Frontotemporal cerebral atrophy, Hypercholesterolemia, Failure to thrive in infancy |
ORPHA:263501 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, A... |
OMIM:277460 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Protruding ... |
ORPHA:192 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Large earlobe, Low-set ears, Dysph... |
OMIM:619312 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado... |
ORPHA:2959 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... |
OMIM:236670 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Abdominal obesity, Hypogonadism, D... |
OMIM:300354 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Aromatase Deficiency |
|
Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys... |
ORPHA:91 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Obesity, Bruxism, Male hypogonadism, Macrotia, EEG with generalized slow activity |
OMIM:300055 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Elevated amniotic fluid alpha-fetoprotein, Hypothyroidism, Decreased response to growth hormone s... |
ORPHA:96179 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Obesity, Chronic otitis media, Failure to thrive, Self-mutilation, Hearing impairment |
ORPHA:412035 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... |
OMIM:201475 |
Atkin-Flaitz Syndrome |
|
Macrotia, Obesity |
ORPHA:1193 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Type II diabetes mellitus, Pigmentary retinopathy, Hypogonadism, Elevated circulating creatine ki... |
ORPHA:79095 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentia... |
OMIM:216400 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:612582 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... |
ORPHA:485 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
48,Xxyy Syndrome |
|
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Cryptorchidis... |
ORPHA:10 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Failure to thrive, Small for gestational age, Conjugated hyperbilirubinemia, ... |
OMIM:614866 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Failure to thrive, Hyperhomocystinemia, Cystathioninem... |
OMIM:277400 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... |
OMIM:614300 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Obesity, Overgrowth, Recurrent otitis media, Polyphagia |
OMIM:616831 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... |
ORPHA:2088 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Axonal degeneration, Degeneration of anterior horn cells, Hyperglycemia, Mildly e... |
OMIM:604484 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Low-set ears, Polyphagia |
OMIM:612469 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy, Weight loss |
ORPHA:3208 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, ... |
ORPHA:369837 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hypothalamic hamartoma |
ORPHA:649929 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... |
ORPHA:790 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati... |
ORPHA:79322 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Truncal obesity |
ORPHA:2928 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Increased circulating IgE level, Obesity, Hypogonadism, ... |
ORPHA:3409 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Aggressive behavior, Obesity, Microtia, Overgrowth, Macrotia, Hearing impairment |
OMIM:620250 |
X-Linked Intellectual Disability, Stevenson Type |
|
Thickened helices, Abnormal pinna morphology, Obesity, Tall stature |
ORPHA:85325 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co... |
OMIM:613154 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Retinal pigment epithelial mottling |
OMIM:614105 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... |
OMIM:615830 |
Chops Syndrome |
|
Thickened helices, Optic atrophy, Obesity, Hearing impairment |
OMIM:616368 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... |
ORPHA:228305 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal degeneration, Retinal hemorrhage, ... |
ORPHA:90324 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Optic nerve dysplasia, Obesity, Cerebral atrophy |
OMIM:617296 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Sensorineural hearing impairment, Low plasma citrulline, Optic atrophy, Pigmen... |
ORPHA:255210 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Low-set ears, Protruding ear |
OMIM:614230 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
EEG with focal epileptiform discharges, Optic atrophy, Obesity, EEG with abnormally slow frequencies |
OMIM:618493 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Hypoglycemia, Insulin resistance, Vertigo, Elevated circulating creatini... |
ORPHA:230 |
Nephronophthisis 11 |
|
Polydipsia, Retinal degeneration |
OMIM:613550 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Spinocerebellar Ataxia Type 7 |
|
Cerebellar atrophy, Cone/cone-rod dystrophy, Restless legs, Abnormal fundus morphology, Cerebral ... |
ORPHA:94147 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Sensorineural hearing impairment, Obesity, Pseudohypoparathy... |
ORPHA:464288 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Baralle-Macken Syndrome |
|
Cafe-au-lait spot, Obesity, Global brain atrophy |
OMIM:619255 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Cerebellar atrophy, Abnormality of ret... |
ORPHA:466768 |
Ramon Syndrome |
|
Optic disc pallor, Decreased body weight, Pigmentary retinopathy, Hearing impairment |
OMIM:266270 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... |
ORPHA:50 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity, Hypogonadism, Hearing impairment |
OMIM:300882 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Diabetes mellitus, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Blue irides, Protruding ear, Abnormal antihelix morphology, Truncal obesity, Hypogonadism, Cafe-a... |
ORPHA:3041 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Cockayne Syndrome |
|
Cerebellar atrophy, High-frequency sensorineural hearing impairment, Optic disc pallor, Retinal a... |
ORPHA:191 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:212138 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Failur... |
ORPHA:94065 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia, Anorexia, Abnormality of the thyroid gland, Melano... |
ORPHA:1969 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Sensorineural hearing impai... |
ORPHA:550 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Inappropria... |
ORPHA:79330 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... |
OMIM:616263 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce... |
ORPHA:91355 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine ki... |
ORPHA:2785 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Cupped ear, Protruding ear, Self-injurious behavior, Microtia, Inappropriate... |
OMIM:156200 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Protruding ear, Truncal obesity, Low-... |
ORPHA:3224 |
Norrie Disease |
|
Retinal detachment, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Retinal... |
OMIM:310600 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Hypertriglyceridemia, Diabetes mellitus, Abnormal circulatin... |
ORPHA:79474 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... |
OMIM:615300 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:602499 |
Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Optic disc drusen, Angioid streaks of the fundu... |
OMIM:264800 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... |
OMIM:609136 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Retinal pigment epithelial mottling, Sensorineural hearing impairme... |
OMIM:607459 |
Norrie Disease |
|
Retinal detachment, Failure to thrive, Diabetes mellitus, Abnormal chorioretinal morphology, Remn... |
ORPHA:649 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypothyroidism, Sensorineural hearing impairment, Optic atroph... |
ORPHA:1606 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Protruding ear, Compulsive behaviors... |
ORPHA:534 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Failure to thrive in infancy, Hypogonadot... |
OMIM:176270 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... |
ORPHA:3077 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu... |
ORPHA:98908 |
Trichothiodystrophy |
|
Protruding ear, Macular degeneration, Numerous pigmented freckles, Bilateral sensorineural hearin... |
ORPHA:33364 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... |
ORPHA:541423 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Obesity, EEG abnormality, I... |
ORPHA:411511 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
X-Linked Intellectual Disability, Shashi Type |
|
Macrotia, Obesity |
ORPHA:85286 |
Carpenter Syndrome |
|
Cryptorchidism, Umbilical hernia, Obesity, Polysplenia |
ORPHA:65759 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Decrea... |
OMIM:133540 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Sensorineural hearing impairment, Small for gestational age, Truncal o... |
OMIM:300957 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Sensorineural hearing impairment, Hypertriglyceride... |
ORPHA:540 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Thickened helices, Conductive hearing impairment, Hypothyroidism, Self-mutilation, Oppositional d... |
OMIM:607872 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Mixed hearing impairment, Obesity, Low-set ears, Thickened helices, Overfolded helix, Neonatal hy... |
OMIM:608624 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to th... |
OMIM:193700 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Wagr Syndrome |
|
Hearing abnormality, Obesity |
ORPHA:893 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Obesity, Low-set ears |
ORPHA:2180 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Failure to thrive,... |
ORPHA:99901 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Posteriorly rotated ears, Overweight, Obesity, Stereotypical hand wri... |
OMIM:619229 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... |
OMIM:219090 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, EEG with abnormally slow frequ... |
ORPHA:98794 |
Joubert Syndrome 37 |
|
Decreased testicular size, Hepatomegaly, Obesity, Cryptorchidism |
OMIM:619185 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Anorexia, Optic atrophy, Disproportionat... |
ORPHA:394 |
Retinoblastoma |
|
Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma |
OMIM:180200 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Down Syndrome |
|
Aganglionic megacolon, Obesity, Type II diabetes mellitus, Round ear, Conductive hearing impairme... |
ORPHA:870 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Insulin resistance, Premature graying of hair, White foreloc... |
ORPHA:902 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Xp22.13P22.2 Duplication Syndrome |
|
Truncal obesity, Attention deficit hyperactivity disorder, Hearing impairment |
ORPHA:284180 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormality of the endocrine ... |
ORPHA:636 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitiv... |
OMIM:610253 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Wide anterior fontanel, ... |
ORPHA:401973 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... |
ORPHA:525731 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity |
ORPHA:79445 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... |
OMIM:103580 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology |
ORPHA:68 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Pigmentary retinopathy, Hypocalcemia, Hypoketot... |
ORPHA:746 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis, Obesity |
ORPHA:96168 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy, Small for gestational age |
OMIM:226960 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Clark-Baraitser syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Posteriorly rotated ears, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder,... |
OMIM:619680 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... |
ORPHA:348 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... |
OMIM:619487 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:369840 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating IgG level, Hypergonadotropic h... |
OMIM:212065 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal calcification, Exudative retinopathy, Vitreoretinopathy |
OMIM:259770 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity, Polysplenia |
OMIM:610543 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Hypogonadism, Delayed puberty, Hyperpigmentation of the ... |
ORPHA:168569 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Precocious puberty, In... |
ORPHA:813 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Alport Syndrome |
|
Macular degeneration, Sensorineural hearing impairment, Retinal flecks, Dysphagia |
ORPHA:63 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Abnormality of skin pigmentation, Tics, Otitis media, Chorioretinal coloboma, Com... |
OMIM:619475 |
Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Posteriorly rotated ears, Obesity, Hearing impair... |
ORPHA:439822 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, I... |
ORPHA:79240 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia, Increased ci... |
ORPHA:3240 |
Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Failure to thrive, ... |
ORPHA:14 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:618183 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Obesity, Cerebral atrophy, Protruding ear, Low-set ears, Compulsive behaviors |
OMIM:618443 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive... |
OMIM:620330 |
Borjeson-Forssman-Lehmann Syndrome |
|
Large earlobe, Hypogonadism, Truncal obesity, Hearing impairment |
ORPHA:127 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... |
ORPHA:508 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, EEG abnormali... |
OMIM:253280 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Small for gestational age, Decreased response to growth ho... |
ORPHA:699 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c... |
ORPHA:247691 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Hyperactivity, Retinal pigment epithelial mottling, Progressive viti... |
OMIM:251260 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Polyphagia, Low-set ears, Abnormality of the outer ear, Self-m... |
ORPHA:251028 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... |
ORPHA:3464 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Vertigo, Obesity, Hyperproteinemia, Increase... |
ORPHA:90041 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Obesity, Attention deficit hyperactivity disorder, Conductive h... |
ORPHA:261197 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism... |
ORPHA:90674 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Cachexia, Aggressive behavior, Abnormal earlobe morphology, Obesity, EEG abnormali... |
ORPHA:85293 |
Adnp Syndrome |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Cerebral atrophy, Protruding ear, Truncal obesity... |
ORPHA:404448 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Failure to thrive, Agangl... |
ORPHA:175 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Failure to thrive, Dysphagia |
OMIM:618460 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Chorioretinitis, Hyperlipidemia, Overgrowth |
ORPHA:199276 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Facial palsy, Decreased response to growth hormone stimu... |
OMIM:615873 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis |
ORPHA:52430 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Optic atrophy, Obesity |
OMIM:614947 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Rod-cone dystrophy, Optic atrophy, Protruding ear, Macular deg... |
ORPHA:3132 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, Hypopigmentation of the s... |
OMIM:219800 |
Angelman Syndrome |
|
Hyperactivity, Blue irides, Obesity, EEG abnormality, Cerebral cortical atrophy, Fair hair, Hypop... |
OMIM:105830 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Diabetes mellitus, Decreased response to ... |
ORPHA:739 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aggressive behavior, Protruding ear, Disproportionate tall stature, Abdominal obesity, Attention ... |
OMIM:301039 |
Achondroplasia |
|
Wide anterior fontanel, Functional abnormality of the middle ear, Obesity, Hearing impairment |
ORPHA:15 |
Megalencephaly |
|
Macroorchidism, Truncal obesity |
ORPHA:2477 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... |
ORPHA:93111 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obe... |
ORPHA:26793 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Abnormal blood ion concentration, Pigmentary retinopathy, Hypo... |
ORPHA:411629 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent otitis media, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Abnormality of t... |
ORPHA:2556 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Microvesicular hepatic steatosis,... |
OMIM:617156 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... |
OMIM:270450 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Kleefstra Syndrome |
|
Aggressive behavior, Chronic otitis media, Self-mutilation, Obesity, Self-injurious behavior, Thi... |
ORPHA:261494 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Failure to thrive, Small for gest... |
ORPHA:404454 |
Vici Syndrome |
|
Hypopigmentation of hair, Macular atrophy, Elevated circulating creatine kinase concentration, Al... |
OMIM:242840 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Addictive alcohol use, Hypercholesterolemia, Hyperglycemia, Hypothyroidism |
ORPHA:90065 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, EEG with burst suppression, Optic atrophy, Obesity, Hypsarrhythmia, Hypogonadism |
OMIM:614231 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Obesity, Protruding ear |
ORPHA:247768 |
2Q37 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Conductive hearing impai... |
ORPHA:1001 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Severe failure to thrive, Retinal atrophy, Optic atrophy |
ORPHA:97297 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia |
ORPHA:445038 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Hypogonadism, Type I... |
ORPHA:96263 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... |
OMIM:307030 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Pointed helix, Abnormality of retinal pigmentation, Cachexia |
ORPHA:3380 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Posteriorly rotated ears, Optic disc hypoplasia, Hypogonadotropic hypogonad... |
ORPHA:3455 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra... |
OMIM:607485 |
Bardet-Biedl Syndrome 12 |
|
Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615989 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Obesity, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Failure to thrive, Cerebral... |
ORPHA:96147 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Trisomy 10P |
|
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Mixed hearing impairment, Sensorineural hearing impairment |
OMIM:272460 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus |
OMIM:177850 |
Weaver Syndrome |
|
Macrotia, Overgrowth, Polyphagia, Melanocytic nevus |
OMIM:277590 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology |
ORPHA:467166 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Unilateral cryptorchidism, Cryptorchidism, Obesity, Male hypogonadism |
ORPHA:261529 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Bloom Syndrome |
|
Small for gestational age, Cryptorchidism, Decreased circulating total IgM, Type II diabetes mell... |
OMIM:210900 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Streak ovary, Obesity |
OMIM:194072 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Sensorineural hearing impairment, Insulin resistance, Truncal obesity, Abnorma... |
OMIM:616541 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Low-set ears, Attention def... |
OMIM:616078 |
Farber Disease |
|
Macular degeneration, Cherry red spot of the macula, Failure to thrive, Brain atrophy |
ORPHA:333 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Wilson Disease |
|
Hypoparathyroidism, Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Posteriorly rotated ears, Aggressive behavior, Obesity, Prominent antihelix, Truncal obesity, Sel... |
ORPHA:466950 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm |
ORPHA:404443 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Abdominal obesity, Hypoplasia of the ov... |
OMIM:619321 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Retinal degeneration |
OMIM:208500 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Diabetes mellitus, Macrotia, Hypertriglyceridemia |
ORPHA:536532 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Obesity |
ORPHA:93952 |
Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothalamic hamartoma |
OMIM:619908 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Bloom Syndrome |
|
Hypopigmentation of the skin, Diabetes mellitus, Small for gestational age, Insulin resistance, A... |
ORPHA:125 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Hypopigmentation of the skin, Posteriorly rotated ears, Hypoglyce... |
OMIM:301066 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
8P23.1 Microdeletion Syndrome |
|
External ear malformation, Obesity, Weight loss, Attention deficit hyperactivity disorder, Low-se... |
ORPHA:251071 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Aganglionic megacolon, Retinal arteriolar tortuosity, Optic ... |
ORPHA:567 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Hearing impairment |
OMIM:309801 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Optic atrophy, Hypoalbuminemia, Brain atrophy |
ORPHA:505248 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, Hypopig... |
ORPHA:2637 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Obesity, Promine... |
ORPHA:466943 |
Fabry Disease |
|
Conjunctival telangiectasia, Anorexia, Vertigo, Sensorineural hearing impairment, Optic atrophy, ... |
ORPHA:324 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Posteriorly rotated ears, Underdeveloped superior crus of antihelix, Abnormality of the pineal gl... |
ORPHA:369950 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Jaundic... |
ORPHA:20 |
3Q29 Microduplication Syndrome |
|
Obesity, Low-set ears, Hearing impairment |
ORPHA:251038 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole... |
OMIM:124000 |
Senior-Loken Syndrome 8 |
|
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy |
OMIM:616307 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypoth... |
ORPHA:66634 |
Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... |
ORPHA:96149 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Obesity |
OMIM:615418 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h... |
OMIM:613658 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carcinoma, Thyro... |
ORPHA:79259 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Elevated circulat... |
ORPHA:91500 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h... |
ORPHA:744 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... |
OMIM:229600 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:881 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Long ear, Self-m... |
ORPHA:293948 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased ... |
ORPHA:177907 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sensorineu... |
ORPHA:478 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Failure to thrive, Fair hair, Posteriorly rotated ears, Retinal dystrophy, Wide anterior fontanel... |
OMIM:266920 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Adrenal calcifi... |
ORPHA:275761 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Knobloch Syndrome |
|
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology |
ORPHA:1571 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Increased circulating IgM level, Macrovesicular ... |
OMIM:617303 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Hepatic failure, Hepatic steatosis, Hypoketotic hypoglycemia |
ORPHA:228308 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi... |
OMIM:619991 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Obesity, Dysphagia, Decreased body weight |
ORPHA:589821 |
Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology |
ORPHA:557003 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Impaired glucos... |
OMIM:256040 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Flexion contracture, Increased intramy... |
ORPHA:17 |
Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia, Delayed puberty, ... |
OMIM:232200 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Adiposis Dolorosa |
|
Hypothyroidism, Obesity |
ORPHA:36397 |
Tangier Disease |
|
Facial diplegia, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Obesity... |
OMIM:309580 |
Hardikar Syndrome |
|
Decreased serum insulin-like growth factor 1, Vertigo, Pigmentary retinopathy, Hyperbilirubinemia... |
OMIM:301068 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplasia of the thymus |
OMIM:619313 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Overgrowth, Small for gestational age, Large for gestational age |
ORPHA:254534 |
Kabuki Syndrome |
|
Failure to thrive, Precocious puberty, Sensorineural hearing impairment, Obesity, Protruding ear,... |
ORPHA:2322 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Overweight, Obesity |
ORPHA:247353 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth... |
OMIM:300868 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Obesity |
ORPHA:563 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Gaucher Disease, Type I |
|
Macular atrophy, Hyperpigmentation of the skin |
OMIM:230800 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology |
ORPHA:404440 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
Diamond-Blackfan Anemia 21 |
|
Obesity, Low-set ears, Protruding ear |
OMIM:620072 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Conductive hearing impairment, Recurrent otitis media, Obesity |
OMIM:250420 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Carney Complex |
|
Pituitary growth hormone cell adenoma, Increased body weight, Thyroid carcinoma, Papillary thyroi... |
ORPHA:1359 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Obesity, Breast aplasia, Hypoplastic nipples, Delayed pu... |
ORPHA:3138 |
Digeorge Syndrome |
|
Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Impaired T cell function, Decreased cir... |
OMIM:188400 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
Xylt1-Cdg |
|
Hepatomegaly, Truncal obesity |
ORPHA:370930 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Microtia, Obesity |
ORPHA:319675 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Precocious puberty, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko l... |
OMIM:210720 |
Aicardi-Goutieres Syndrome 7 |
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Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Increased circulating antibod... |
OMIM:615846 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Posteriorly rotated ears, Small for gestational age, Increased serum testos... |
OMIM:264090 |
White-Kernohan Syndrome |
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Obesity, Low-set ears, Attention deficit hyperactivity disorder, Recurrent otitis media, Macrotia... |
OMIM:619426 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy |
ORPHA:391665 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... |
OMIM:203700 |
New-Onset Refractory Status Epilepticus |
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Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Glycogen Storage Disease Ib |
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Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty, Lipemia retinalis |
OMIM:232220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
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Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
3P25.3 Microdeletion Syndrome |
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Abnormal thalamus morphology |
ORPHA:435638 |
Cach Syndrome |
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T2 hypointense thalamus |
ORPHA:135 |
Woodhouse-Sakati Syndrome |
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Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Williams-Beuren Syndrome |
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Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Retinal arteriolar tortuosity, Se... |
OMIM:194050 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Low-set, posteriorly rotated ears, Mixed hearing impairment, Decreased response to growth hormone... |
ORPHA:444077 |
Sitosterolemia 1 |
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Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased circulating IgG level, Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomega... |
OMIM:618278 |
Monosomy 22Q13.3 |
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Hyperactivity, Hearing impairment, Hair-pulling, Obesity, Bruxism, Macrotia, Cerebellar cortical ... |
ORPHA:48652 |
Chromosome 22Q13 Duplication Syndrome |
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Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Failure to thrive, Hypertriglyceridemia |
OMIM:617591 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin resistance, Hyperlipidemia, Hyperpigmentation of the skin, Hearing impairment |
ORPHA:90153 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:615356 |
Pmm2-Cdg |
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Failure to thrive, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Elevated circulating... |
ORPHA:79318 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Increased body weight |
OMIM:300860 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Obesity |
OMIM:618395 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Failure to thrive, Optic disc coloboma, Obesity, Pseudohypoparathyroidism |
OMIM:617157 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... |
OMIM:301072 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Overfolded helix, Abnormal repetitive mannerisms, Obesity, Low-set ears |
OMIM:618653 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:619573 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Premature graying of hair, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary carcinoid tumor |
ORPHA:363618 |
Sandhoff Disease, Infantile Form |
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Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Low-set, posteriorly rotated ears, Streak ovary, Increased circulating gonadotropin level, Obesit... |
ORPHA:1772 |
Williams Syndrome |
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Elevated circulating creatine kinase concentration, Protruding ear, Compulsive behaviors, Chronic... |
ORPHA:904 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Abnormal thalamus morphology |
ORPHA:300570 |
Schinzel-Giedion Syndrome |
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Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Wid... |
ORPHA:798 |
Griscelli Syndrome Type 2 |
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Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
Neuroferritinopathy |
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T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
Arima Syndrome |
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Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulating ferritin conc... |
OMIM:619534 |
Primrose Syndrome |
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Restlessness, Calcification of the auricular cartilage, Diabetes mellitus, Hypergonadotropic hypo... |
OMIM:259050 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Abnormality of the diencephalon |
ORPHA:2720 |
Nephrotic Syndrome, Type 1 |
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Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Combined Oxidative Phosphorylation Defect Type 7 |
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Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, Gluc... |
OMIM:619127 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Decreased thalamic volume |
ORPHA:370959 |
Myhre Syndrome |
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Small for gestational age, Obesity, Microtia, Low-set ears, Hearing impairment |
OMIM:139210 |
Witteveen-Kolk Syndrome |
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Hyperactivity, Glue ear, Small for gestational age, Decreased response to growth hormone stimulat... |
OMIM:613406 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Rhombencephalosynapsis |
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Fusion of the left and right thalami |
ORPHA:59315 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Splenomegaly, Truncal obesity, Failure to thrive, Pancreatitis |
OMIM:222700 |
Japanese Encephalitis |
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Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology |
ORPHA:79139 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... |
OMIM:309000 |
Hemophagocytic Syndrome Associated With An Infection |
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Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Rubinstein-Taybi Syndrome 1 |
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Hyperactivity, Small for gestational age, Hearing impairment, Impulsivity, Premature thelarche, W... |
OMIM:180849 |
Smith-Lemli-Opitz Syndrome |
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Hepatomegaly, Precocious puberty, Splenomegaly, Cryptorchidism, Cholestatic liver disease, Cirrho... |
OMIM:270400 |
Sotos Syndrome |
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Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
6Q Terminal Deletion Syndrome |
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Low-set, posteriorly rotated ears, Failure to thrive, Obesity, Hypsarrhythmia |
ORPHA:75857 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Ogden Syndrome |
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Inguinal hernia, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Cryptorchidism, H... |
OMIM:300855 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Decreased response to grow... |
OMIM:619503 |
Congenital Disorder Of Deglycosylation 2 |
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Hypothalamic hamartoma |
OMIM:619775 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets... |
OMIM:220111 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Sensorineural hearing impairment, Diabetes mellitus, Elevated circulating creatine kinase concent... |
ORPHA:565612 |
Hydranencephaly |
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Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Desbuquois Dysplasia 2 |
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Truncal obesity |
OMIM:615777 |
Cornelia De Lange Syndrome |
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Low-set, posteriorly rotated ears, Failure to thrive, Sensorineural hearing impairment, Delayed p... |
ORPHA:199 |
Acute Disseminated Encephalomyelitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Leigh Syndrome |
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Abnormal thalamic MRI signal intensity |
ORPHA:506 |
Carpenter Syndrome 2 |
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Posteriorly rotated ears, Sensorineural hearing impairment, Obesity, Protruding ear, Low-set ears |
OMIM:614976 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Sensorineural hearing impairment, Protruding ear, Truncal obesity, Self-injurious behavior, Low-s... |
OMIM:612474 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contra... |
OMIM:181450 |
Pallister-Hall Syndrome |
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Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma |
OMIM:146510 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Fusion of the left and right thalami |
OMIM:619306 |
Tay-Sachs Disease |
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Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Orofaciodigital Syndrome Type 6 |
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Hypothalamic hamartoma |
ORPHA:2754 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty, Hyperpigmentation of the skin |
ORPHA:90154 |
Orofaciodigital Syndrome Vi |
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Hypothalamic hamartoma |
OMIM:277170 |
Microphthalmia, Syndromic 3 |
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Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
Leukocyte Adhesion Deficiency |
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Impaired neutrophil chemotaxis, Peritonitis, Abnormality of neutrophil physiology, Hyperinsulinem... |
ORPHA:2968 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thalamic hemorrhage |
ORPHA:464321 |
Chronic Thromboembolic Pulmonary Hypertension |
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Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent... |
ORPHA:70591 |
Orofaciodigital Syndrome I |
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Hypothalamic hamartoma |
OMIM:311200 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Decreased thalamic volume |
ORPHA:168577 |
Tako-Tsubo Cardiomyopathy |
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Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration |
ORPHA:66529 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Bickerstaff Brainstem Encephalitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Holoprosencephaly 7 |
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Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
Pallister-Killian Syndrome |
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Posteriorly rotated ears, Wide anterior fontanel, Hyperpigmented streaks, Obesity, Hypopigmented ... |
OMIM:601803 |
Pallister-Hall Syndrome |
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Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothyroidism, Abnorm... |
ORPHA:672 |
Glycogen Storage Disease Ic |
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Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty |
OMIM:232240 |