Gene: Tub MGI:2651573

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

tubby bipartite transcription factor

Synonyms:

rd5, tub

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tub mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Tub (2 diseases)
Human diseases predicted to be associated with Tub (1190 diseases)

The table below shows human diseases associated to Tub by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Retinitis Pigmentosa		Abnormality of retinal pigmentation, Hyperinsulinemia, Conductive hearing impairment, Sensorineur...	ORPHA:791
Retinal Dystrophy And Obesity		Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy,...	OMIM:616188

The table below shows human diseases predicted to be associated to Tub by phenotypic similarity.

Disease	Matching phenotypes	Source
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Stargardt Disease 1	Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa	OMIM:248200
Retinoschisis, Autosomal Dominant	Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation	OMIM:180270
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp...	OMIM:601820
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ...	ORPHA:293964
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Macular Degeneration, Age-Related, 13	Macular scar, Drusen, Macular degeneration, Choroidal neovascularization	OMIM:615439
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Mental Retardation, Autosomal Dominant 39	Obesity	OMIM:616521
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Exudative Vitreoretinopathy 7	Retinal hole, Vitreoretinopathy, Retinal degeneration	OMIM:617572
Maturity-Onset Diabetes Of The Young, Type 11	Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity	OMIM:613375
Liberfarb Syndrome	Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Bone...	OMIM:618889
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Macular Dystrophy, Patterned, 3	Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization	OMIM:617111
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Cone-Rod Dystrophy 7	Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy	OMIM:603649
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Retinitis Pigmentosa 36	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati...	OMIM:610599
Retinoschisis 1, X-Linked, Juvenile	Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d...	OMIM:312700
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Bardet-Biedl Syndrome 16	Recurrent otitis media, Retinal degeneration, Hearing impairment, Hypogonadism, Rod-cone dystroph...	OMIM:615993
Stargardt Disease 3	Macular atrophy, Macular flecks, Macular dystrophy	OMIM:600110
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap...	OMIM:608051
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Large for gestational age	OMIM:240900
Retinitis Pigmentosa Inversa With Deafness	Sensorineural hearing impairment, Retinitis pigmentosa inversa, Rod-cone dystrophy	OMIM:268010
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Obesity Due To Prohormone Convertase I Deficiency	Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre...	ORPHA:71526
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom...	ORPHA:79084
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Lipoatrophy, Polycystic...	ORPHA:280356
Leber Congenital Amaurosis 19	Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration	OMIM:618513
Macular Dystrophy, Vitelliform, 2	Subretinal fluid, Cystoid macular degeneration, Macular dystrophy	OMIM:153700
Ceroid Lipofuscinosis, Neuronal, 6	Increased neuronal autofluorescent lipopigment, Abnormal nervous system electrophysiology, Retina...	OMIM:601780
Macular Degeneration, X-Linked Atrophic	Macular degeneration	OMIM:300834
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal ob...	ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	OMIM:609968
Retinitis Pigmentosa 31	Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy	OMIM:609923
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus	OMIM:615980
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hyperinsulinemia, Conductive hearing impairment, Sensorineur...	ORPHA:791
Retinopathy, Pericentral Pigmentary, Dominant	Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,...	OMIM:180210
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Ceroid Lipofuscinosis, Neuronal, 2	Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Incr...	OMIM:204500
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Macular drusen	OMIM:608850
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615990
Late-Onset Retinal Degeneration	Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits	OMIM:605670
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure	OMIM:261650
Retinitis Pigmentosa 13	Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration	OMIM:600059
Usher Syndrome, Type Iv	Progressive sensorineural hearing impairment, Retinal atrophy, Retinal degeneration, Sensorineura...	OMIM:618144
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration	OMIM:617879
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:614322
Opticocochleodentate Degeneration	Hearing impairment, Optic atrophy, Cochlear degeneration	OMIM:258700
Diabetes And Deafness, Maternally Inherited	Vertigo, Vestibular dysfunction, Pigmentary retinopathy, Retinal degeneration, Sensorineural hear...	OMIM:520000
Cone-Rod Dystrophy 11	Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration	OMIM:610381
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Hearing impairment, Cerebral atrophy, Cerebellar atrophy, Pigmentary retinopathy	OMIM:619090
Macrosomia With Microphthalmia, Lethal	Large for gestational age	OMIM:248110
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance	ORPHA:140941
Insulinomatosis And Diabetes Mellitus	Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat...	OMIM:147630
Abcd Syndrome	Albinism, Aganglionic megacolon, Hypopigmentation of the fundus, Hearing impairment, Abnormal aud...	OMIM:600501
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hyperinsulinemia, Hypergonadotropic hypogonadism, Cerebellar...	ORPHA:3085
Retinitis Pigmentosa 70	Optic disc pallor, Rod-cone dystrophy, Retinal degeneration	OMIM:615922
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Retinitis Pigmentosa 32	Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:609913
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Ceroid Lipofuscinosis, Neuronal, 7	Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, EEG abnormality,...	OMIM:610951
Chromosome Xq21 Deletion Syndrome	Progressive sensorineural hearing impairment, Conductive hearing impairment, Chorioretinal atroph...	OMIM:303110
Retinitis Pigmentosa 38	Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor	OMIM:613862
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Increased circulating an...	ORPHA:411593
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration	OMIM:609021
Bardet-Biedl Syndrome 11	Hypogonadism, Retinopathy, Obesity	OMIM:615988
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati...	OMIM:610359
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Macular Degeneration, Age-Related, 1	Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula...	OMIM:603075
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy	OMIM:136550
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Tall stature, Obesity	OMIM:618406
Bardet-Biedl Syndrome 7	Obesity	OMIM:615984
Ceroid Lipofuscinosis, Neuronal, 1	Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, EEG abnor...	OMIM:256730
Bardet-Biedl Syndrome 12	Hypogonadism, Rod-cone dystrophy, Obesity	OMIM:615989
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy	OMIM:600977
Lattice Degeneration Of Retina Leading To Retinal Detachment	Lattice retinal degeneration, Retinal detachment	OMIM:150500
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia...	ORPHA:85128
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe...	ORPHA:324575
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features	Sensorineural hearing impairment, Macular degeneration, Large earlobe	OMIM:612948
Oliver-Mcfarlane Syndrome	Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Delayed puberty, Small for g...	OMIM:275400
Wagner Vitreoretinopathy	Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera...	OMIM:143200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy	OMIM:610156
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration, Cerebral atrophy	OMIM:616211
Bardet-Biedl Syndrome 22	Hypogonadism, Rod-cone dystrophy, Obesity	OMIM:617119
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retinal...	ORPHA:436182
Auditory Neuropathy, Autosomal Dominant, 1	Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment...	OMIM:609129
Central Areolar Choroidal Dystrophy	Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los...	ORPHA:75377
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ...	ORPHA:263458
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Glucose intolerance, Orthostatic hypotension, Pigmentary retinopathy, Insul...	OMIM:606721
Hyperinsulinism Due To Glucokinase Deficiency	Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes...	ORPHA:79299
Ceroid Lipofuscinosis, Neuronal, 10	Retinal atrophy, Cerebral atrophy, Low-set ears, Cerebellar atrophy, Increased neuronal autofluor...	OMIM:610127
Smith-Magenis Syndrome	Hypercholesterolemia, Morphological abnormality of the middle ear, Abnormality of the outer ear, ...	OMIM:182290
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated hepatic transaminase	OMIM:615395
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy,...	OMIM:616188
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Dysphagia, Low-set ears, Bilateral sensorineural hearing impairment, Opti...	OMIM:264470
Bardet-Biedl Syndrome 6	Obesity, Diabetes mellitus, Rod-cone dystrophy, Retinal dystrophy	OMIM:605231
Hsd10 Mitochondrial Disease	Hypoglycemia, Retinal degeneration, Cerebral cortical atrophy, Sensorineural hearing impairment, ...	OMIM:300438
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ...	ORPHA:276608
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1852
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ...	ORPHA:276580
Bardet-Biedl Syndrome 18	Obesity, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy	Macular atrophy, Optic atrophy, Cranial nerve compression	OMIM:250450
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Diabetes mellitus, Lipoatrophy	OMIM:613877
Bardet-Biedl Syndrome 10	Obesity, Hypogonadism, Rod-cone dystrophy, Retinal dystrophy	OMIM:615987
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb	OMIM:618646
Combined Oxidative Phosphorylation Deficiency 37	Retinal degeneration, Hypoglycemia, Cerebellar atrophy, Sensorineural hearing impairment, Hyperal...	OMIM:618329
Combined Oxidative Phosphorylation Deficiency 34	Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hepatic failure, Fa...	OMIM:617872
Retinitis Pigmentosa 68	Retinal atrophy, Rod-cone dystrophy	OMIM:615725
Retinitis Pigmentosa 11	Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc...	OMIM:600138
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif...	ORPHA:276575
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity, Sensorineural hearing impairment, Cerebral atrophy, Retinal dystrophy	OMIM:616756
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Splenomegaly, Reduced subcuta...	OMIM:612526
Bardet-Biedl Syndrome 5	Obesity, Hypogonadism, Rod-cone dystrophy, Macular dystrophy	OMIM:615983
Leptin Receptor Deficiency	Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Abnormal hypothal...	OMIM:614963
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy	OMIM:551500
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista...	OMIM:604367
Ramon Syndrome	Abnormality of retinal pigmentation, Conductive hearing impairment, Sensorineural hearing impairm...	ORPHA:3019
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia, Insulin resistance, Hypoglycemia, Hearing impairment, Truncal obesity, Fail...	ORPHA:181393
Cofs Syndrome	Abnormality of retinal pigmentation, Cerebral cortical atrophy, Sensorineural hearing impairment,...	ORPHA:1466
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Combined Oxidative Phosphorylation Deficiency 19	Hepatic steatosis, Failure to thrive	OMIM:615595
Ring Chromosome 14 Syndrome	Low-set ears, Pigmentary retinopathy	OMIM:616606
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Abnormal nervous system elect...	OMIM:256731
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:614480
Persistent Placoid Maculopathy	Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H...	ORPHA:97341
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Type II diabetes mellitus	ORPHA:2579
Kearns-Sayre Syndrome	Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism	ORPHA:480
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Macular Dystrophy, Vitelliform, 3	Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ...	OMIM:608161
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis, Lipodystrophy	OMIM:615238
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Leber Congenital Amaurosis 1	Sensorineural hearing impairment, Hyperthreoninemia, Pigmentary retinopathy, Fundus atrophy	OMIM:204000
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Retinitis Pigmentosa 30	Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta...	OMIM:607921
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Obesity	ORPHA:329249
Leber Congenital Amaurosis	Hearing impairment, Abnormality of retinal pigmentation, Abnormality of the optic disc	ORPHA:65
Morbid Obesity And Spermatogenic Failure	Hepatic steatosis, Insulin resistance, Type II diabetes mellitus, Obesity	OMIM:615703
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 71	Attenuation of retinal blood vessels, Drusen, Rod-cone dystrophy, Optic disc pallor, Obesity	OMIM:616394
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, C...	OMIM:251270
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op...	OMIM:612572
Bardet-Biedl Syndrome 9	Polyphagia, Attenuation of retinal blood vessels, Polydipsia, Retinal degeneration, Truncal obesi...	OMIM:615986
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Retinal dystrophy	OMIM:615147
Bardet-Biedl Syndrome 4	Hypogonadism, Rod-cone dystrophy, Retinal degeneration, Obesity	OMIM:615982
Isolated Growth Hormone Deficiency, Type V	Truncal obesity, Decreased response to growth hormone stimuation test, Abdominal obesity	OMIM:618160
Stargardt Disease	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo...	ORPHA:827
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo...	ORPHA:79085
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration	Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity	OMIM:608895
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest...	OMIM:617156
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia, Failure to thrive	OMIM:606528
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Wide anterior fontanel, Low-set, posteriorly rotated ears, P...	ORPHA:44
Dysplasia Epiphysealis Hemimelica	Overgrowth	OMIM:127800
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Abnormal macular morphology, Increased LDL cholesterol concentration, Decre...	OMIM:607616
Immunodeficiency 47	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating antibody level...	OMIM:300972
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Nephronophthisis 15	Retinal degeneration, Obesity	OMIM:614845
Mody	Abnormal oral glucose tolerance, Overweight, Exocrine pancreatic insufficiency, Hyperinsulinemic ...	ORPHA:552
Bardet-Biedl Syndrome 21	Retinal atrophy, Overweight, Retinal thinning, Cone/cone-rod dystrophy, Hyperautofluorescent macu...	OMIM:617406
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche, Obesity	OMIM:614662
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Abnormality of the outer ear	ORPHA:2515
Nanophthalmos	Abnormal choroid morphology, Abnormality of retinal pigmentation	ORPHA:35612
Narp Syndrome	Retinal pigment epithelial mottling, Cerebral cortical atrophy, Hearing impairment, Corticospinal...	ORPHA:644
Canavan Disease	Hearing impairment, Optic atrophy, Abnormality of retinal pigmentation, EEG abnormality	ORPHA:141
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Cystoid macular degeneration, Retinal degeneration	OMIM:267760
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:619007
Hsd10 Disease, Infantile Type	Dysphagia, Cerebral atrophy, Neurodegeneration, Retinal degeneration, Frontotemporal cerebral atr...	ORPHA:391428
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Macrosomia Adiposa Congenita	Large for gestational age, Obesity	OMIM:248100
Multiple Mitochondrial Dysfunctions Syndrome 5	Elevated circulating creatine kinase concentration, Pigmentary retinopathy	OMIM:617613
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Adrenal hypoplasia, Decreased response to growth hormone stimuation test, ...	OMIM:609734
Ophthalmoplegia, External, And Myopia	Chorioretinal degeneration, Retinal degeneration	OMIM:311000
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Pigmentary retinopathy	OMIM:614307
Ceroid Lipofuscinosis, Neuronal, 3	Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Increased neuronal autoflu...	OMIM:204200
Coasy Protein-Associated Neurodegeneration	Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate...	ORPHA:397725
Mucolipidosis Iv	Hypergastrinemia, Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:252650
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Dysphagia, Retinal degeneration, Cerebral corti...	OMIM:604360
Retinitis Pigmentosa 84	Macular atrophy, Rod-cone dystrophy, Macular coloboma	OMIM:618220
Mgat2-Cdg	Tall stature	ORPHA:79329
Cidec-Related Familial Partial Lipodystrophy	Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Po...	ORPHA:435651
Cone-Rod Dystrophy 16	Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:614500
Retinitis Pigmentosa 80	Macular atrophy	OMIM:617781
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration	Retinal degeneration, Decreased response to growth hormone stimuation test	OMIM:225755
Temple Syndrome	Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Recurrent otitis media, P...	OMIM:616222
Acromegaloid Facial Appearance Syndrome	Large for gestational age	OMIM:102150
Hyperlipoproteinemia, Type Ii, And Deafness	Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia, Increased LDL cholesterol concent...	OMIM:144300
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal degeneration, Cone/cone-rod dystrophy, Sensorineural hearing impairment, Optic atrophy, D...	OMIM:249270
Bardet-Biedl Syndrome 2	Retinal degeneration, Hypogonadism, Diabetes mellitus, Rod-cone dystrophy, Obesity	OMIM:615981
Retinitis Pigmentosa 88	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:618826
Juvenile Paget Disease	Abnormality of retinal pigmentation, Melanocytic nevus, Hyperuricemia, Hearing impairment, Optic ...	ORPHA:2801
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Microphthalmia, Isolated 5	Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli...	OMIM:611040
Hyperostosis Frontalis Interna	Diabetes mellitus, Increased circulating prolactin concentration, Obesity	OMIM:144800
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Summitt Syndrome	Obesity	OMIM:272350
Diprosopus	External ear malformation, Abnormality of retinal pigmentation	ORPHA:1681
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok...	ORPHA:276556
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy	OMIM:125250
Halothane Hepatitis	Viral hepatitis, Jaundice, Hepatitis, Obesity	OMIM:234350
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Lipe-Related Familial Partial Lipodystrophy	Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr...	ORPHA:435660
Spinocerebellar Ataxia 7	Dysphagia, Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Dystonia 30	Hypothalamic hamartoma, Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility...	OMIM:619291
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked potenti...	ORPHA:99852
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Obesity Due To Congenital Leptin Deficiency	Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se...	ORPHA:66628
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad	OMIM:616033
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Sensorineural hearing impairment, Retinal degeneration	OMIM:616896
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Obesity	OMIM:614947
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating a...	OMIM:301045
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White...	ORPHA:897
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular...	ORPHA:1390
Retinitis Pigmentosa 73	Retinal atrophy, Rod-cone dystrophy	OMIM:616544
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Acquired Partial Lipodystrophy	Hepatic steatosis, Lipoatrophy, Insulin resistance	ORPHA:79087
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati...	OMIM:601718
Alstrom Syndrome	Progressive sensorineural hearing impairment, Hyperinsulinemia, Pigmentary retinopathy, Multinodu...	OMIM:203800
Mohr-Tranebjaerg Syndrome	Vestibular dysfunction, Global brain atrophy, Dysphagia, Caudate atrophy, Absent brainstem audito...	ORPHA:52368
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore...	OMIM:617123
Neutral Lipid Storage Disease With Myopathy	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Sensorineural hearing i...	OMIM:610717
Exudative Vitreoretinopathy 3	Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold	OMIM:605750
Retinitis Pigmentosa 27	Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c...	OMIM:613750
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se...	ORPHA:179494
Refsum Disease, Classic	Elevated levels of phytanic acid, Sensorineural hearing impairment, Rod-cone dystrophy, Retinal d...	OMIM:266500
Leigh Syndrome With Leukodystrophy	Hearing impairment, Optic atrophy, Failure to thrive, Pigmentary retinopathy	ORPHA:255241
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Macular atrophy, Attenuation of retinal blood vessels, Cerebral atrophy, Retinal degeneration, Br...	OMIM:619260
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Central Retinal Vein Occlusion	Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular...	ORPHA:411527
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Abnormality of the pinna, Cerebral cortical atrophy, Congenital hypothyroidism, Congenital statio...	ORPHA:352530
Autosomal Dominant Optic Atrophy Plus Syndrome	Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit...	ORPHA:1215
Congenital Toxoplasmosis	Hearing impairment, Abnormality of retinal pigmentation, Failure to thrive in infancy	ORPHA:858
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Achromatopsia	Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ...	ORPHA:49382
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Optic disc pallor	OMIM:618195
Insulinoma	Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena...	ORPHA:97279
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated hepatic transaminase	OMIM:618400
Perlman Syndrome	Cryptorchidism, Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Femoral hernia, Ab...	ORPHA:2849
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Cochlear degeneration, Spinocerebellar atrophy, Mildly elevated creatine kinase, Elevated alpha-f...	ORPHA:95433
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos...	ORPHA:363400
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive	OMIM:617093
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy	OMIM:601382
Lipodystrophy, Familial Partial, Type 2	Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, Increased...	OMIM:151660
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Large for gestational age	ORPHA:356996
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
African Iron Overload	Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat...	ORPHA:139507
Intellectual Developmental Disorder With Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Glycogen Storage Disease Vi	Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi...	OMIM:232700
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Hypogonadism, Obesity	ORPHA:85274
Hyperinsulinism Due To Hnf4A Deficiency	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline...	ORPHA:263455
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, Retinopathy, Optic disc pallor	OMIM:616171
Retinitis Pigmentosa 69	Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism	Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi...	OMIM:619326
Congenital Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose tissue loss, Lipodyst...	ORPHA:528
Achromatopsia 7	Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex	OMIM:616517
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Dysphagia, Hearing impairment, Pigmentary retinopathy	ORPHA:329336
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Idiopathic Intracranial Hypertension	Obesity, Vertigo, Papilledema, Pulsatile tinnitus	ORPHA:238624
Coronary Artery Disease, Autosomal Dominant 2	Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab...	OMIM:610947
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Retinitis Pigmentosa 9	Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:180104
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Hydroxyprolinemia, Hyperuricemia, Retinal degeneration, Sensorineural hearing impai...	OMIM:239000
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Bardet-Biedl Syndrome 19	Hypogonadism, Rod-cone dystrophy, Obesity	OMIM:615996
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Deafness-Hypogonadism Syndrome	Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd...	ORPHA:90646
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Prader-Willi Habitus, Osteopenia, And Camptodactyly	Camptodactyly, Joint contracture of the hand, Obesity	OMIM:264010
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Stapes ankylosis, Conductive hearing impairment, Pituitary hyp...	ORPHA:1435
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Abnormality of the helix	ORPHA:1259
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Hypogonadism, Retinal degeneration, Obesity	OMIM:615994
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Cerebral atrophy, Retinal dystrophy, Sensorineural hearing impairm...	ORPHA:464282
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Hep...	OMIM:619048
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Dysphagia, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality...	OMIM:617519
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Congenital Disorder Of Glycosylation, Type Iip	Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase	OMIM:616829
Retinopathy, Pigmentary, And Mental Retardation	Hypogonadism, Truncal obesity, Pigmentary retinopathy	OMIM:268050
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Otosclerosis 7	Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme...	OMIM:611572
Hernández-Aguirre Negrete Syndrome	Low-set, posteriorly rotated ears, Delayed puberty, EEG abnormality, Obesity	ORPHA:2139
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia	ORPHA:35878
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Pigmentary retinopathy, Dysphagia, Cerebral atrophy, Retinal degenera...	ORPHA:79264
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive	ORPHA:26792
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Cone-Rod Dystrophy 15	Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy	OMIM:613660
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor	OMIM:613843
Glycosylphosphatidylinositol Biosynthesis Defect 17	Abnormal ear morphology, Hypertriglyceridemia	OMIM:618010
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin...	ORPHA:99886
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Smith-Magenis Syndrome	Hypercholesterolemia, Conductive hearing impairment, Hypothyroidism, Chronic otitis media, Failur...	ORPHA:819
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration	OMIM:264420
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:618613
Cone-Rod Dystrophy 21	Macular atrophy, Retinal dystrophy	OMIM:616502
Deafness, Autosomal Dominant 9	Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Obesity	ORPHA:3055
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinal Venous Beading	Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,...	OMIM:180080
Retinitis Pigmentosa 7	Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Wolfram Syndrome 1	Pigmentary retinopathy, Dysphagia, Hypothyroidism, Cerebral atrophy, Testicular atrophy, Sensorin...	OMIM:222300
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Polyphagia, Neonatal hypoglycemia, Macrotia, Hypergonadotropic hypogonadism, Poster...	OMIM:606407
Cholesterol-Ester Transfer Protein Deficiency	Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot...	ORPHA:79506
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Failur...	OMIM:602579
Narcolepsy Type 1	Obesity	ORPHA:2073
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Optic atrophy, Retinal degeneration	OMIM:214980
Leigh Syndrome	Failure to thrive, Sensorineural hearing impairment, Pigmentary retinopathy, Optic atrophy	OMIM:256000
Immunodeficiency 61	Agammaglobulinemia, Obesity	OMIM:300310
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia	OMIM:306000
Leber Congenital Amaurosis 4	Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:604393
Retinitis Pigmentosa 77	Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy	OMIM:617304
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista...	OMIM:262190
Retinitis Punctata Albescens	Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re...	ORPHA:52427
Congenital Muscular Dystrophy With Intellectual Disability	Elevated circulating creatine kinase concentration, Cerebral cortical atrophy, Facial palsy, Pigm...	ORPHA:370968
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Type I diabetes mellitus	ORPHA:290
Oguchi Disease	Rod-cone dystrophy, Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness	ORPHA:75382
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Cerebral cortical atrophy, Abnormality of retinal pigmentation, Protruding ear, Optic atrophy	ORPHA:2518
Bardet-Biedl Syndrome	Pigmentary retinopathy, Low-set, posteriorly rotated ears, Hearing impairment, Hypogonadism, Hypo...	ORPHA:110
Eem Syndrome	Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy	ORPHA:1897
Insulin-Resistance Syndrome Type B	Hyperinsulinemic hypoglycemia, Weight loss, Increased circulating IgG level, Type II diabetes mel...	ORPHA:2298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Retinal deg...	OMIM:615249
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Hypergonadotropic hypogonadism, Cerebral atrophy, Insulin-resistant diabe...	OMIM:268020
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Blotching pigmentation of the skin, Mottled pigmentation of photoexposed ...	OMIM:560000
Retinitis Pigmentosa 4	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613731
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Carnitine Deficiency, Systemic Primary	Elevated hepatic transaminase, Hepatic steatosis, Impaired gluconeogenesis, Decreased carnitine l...	OMIM:212140
Vici Syndrome	Abnormality of retinal pigmentation, Abnormal macular morphology, Cerebral cortical atrophy, Sens...	ORPHA:1493
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Fundus atrophy	OMIM:204100
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, Decreas...	ORPHA:96180
Donohue Syndrome	Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ...	OMIM:246200
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy, Corpus callosum atrophy, Dysphagia, Hypothyroidism, Abnormal motor evoked potent...	ORPHA:412057
Liver Failure, Infantile, Transient	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis...	OMIM:613070
Deafness, X-Linked 6	Hearing impairment, Cochlear malformation	OMIM:300914
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Sjögren-Larsson Syndrome	Generalized hyperpigmentation, Macular degeneration, Abnormality of retinal pigmentation, Retinop...	ORPHA:816
Retinitis Pigmentosa 2	Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:312600
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy	OMIM:613767
Central Precocious Puberty	Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod...	ORPHA:759
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy	OMIM:212550
11P15.4 Microduplication Syndrome	Posteriorly rotated ears, Obesity, Macrotia	ORPHA:300305
Retinitis Pigmentosa 6	Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:312612
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormal calcium-phosphate regulating hormone level, Chorioretinal coloboma, Abnormality of retin...	ORPHA:2196
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning	OMIM:270200
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Truncal obesity, Failure to thrive, Decreased testicular size, Hypogonadism, Prem...	ORPHA:261483
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Hypogonadism, Optic atrophy, ...	ORPHA:1173
Aceruloplasminemia	Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Diabete...	OMIM:604290
Bardet-Biedl Syndrome 1	Nephrogenic diabetes insipidus, Aganglionic megacolon, Retinal degeneration, Retinal dystrophy, H...	OMIM:209900
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Failure ...	OMIM:614300
Galactokinase Deficiency	Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact...	ORPHA:79237
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Mucopolysaccharidosis Type 2	Otosclerosis, Abnormality of retinal pigmentation, Conductive hearing impairment, Papilledema, Ab...	ORPHA:580
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
6Q16 Microdeletion Syndrome	Polyphagia, Abnormal ear morphology, Low-set ears, Microtia, Obesity	ORPHA:171829
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Cryptorchidism, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion con...	OMIM:615381
Craniopharyngioma	Vertigo, Polyphagia, Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Central adr...	ORPHA:54595
Non-Specific Early-Onset Epileptic Encephalopathy	EEG with multifocal slow activity, Hypsarrhythmia, Cerebral atrophy, Retinal degeneration, Brain ...	ORPHA:442835
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Joubert Syndrome 28	Pigmentary retinopathy, Optic disc pallor	OMIM:617121
Retinitis Pigmentosa 41	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:612095
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type	Severe sensorineural hearing impairment, Chorioretinal coloboma, Obesity	OMIM:600122
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem...	OMIM:601596
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral...	OMIM:305390
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Cerebral atrophy, Neuronal loss in central nervous system	OMIM:615924
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Macrotia, Attached earlobe, Low-set ears, Patchy atrophy of the retinal pigment epithelium, Rod-c...	ORPHA:436245
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity	ORPHA:363741
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye...	OMIM:604116
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment	OMIM:193230
Hemochromatosis Type 4	Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis	ORPHA:139491
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit...	ORPHA:209902
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Sensorineural hearing impairment, Retinal atrophy	OMIM:617236
Acquired Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista...	ORPHA:79086
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity	OMIM:601794
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Protruding ear	OMIM:108145
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Primary hypothyroidism, Failure ...	ORPHA:300536
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Diabetes mellitus, Obesity	OMIM:610628
Combined Oxidative Phosphorylation Deficiency 52	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Adr...	OMIM:619386
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hypoplasi...	ORPHA:785
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat...	OMIM:608594
Mehmo Syndrome	Male hypogonadism, Macrotia, Decreased response to growth hormone stimuation test, Hypoglycemia, ...	OMIM:300148
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypoglycemia, Low-set ears, Hypertriglyceridemia, Adrenal insufficienc...	OMIM:307030
Adrenomyodystrophy	Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma	OMIM:300270
Wilson Disease	Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu...	ORPHA:905
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Decreased serum leptin, Obesity	OMIM:614962
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Retinal calcification, Papilledema, Transient hypophosphatemia, Small for gestation...	OMIM:127000
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R...	OMIM:145350
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive...	OMIM:618805
Adiposis Dolorosa	Painful subcutaneous lipomas, Obesity	OMIM:103200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries...	ORPHA:2348
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati...	OMIM:256810
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction	Progressive sensorineural hearing impairment, Diabetes mellitus, Cochlear degeneration	OMIM:172500
Estrogen Resistance	Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia	OMIM:615363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Cerebral cortical atrophy, Facial palsy, Pigm...	OMIM:613156
Autosomal Recessive Spastic Paraplegia Type 15	Pseudobulbar paralysis, Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retin...	ORPHA:100996
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperglycinemia, Hyperalaninemia, Pigmentary retinopathy, Brain atrophy	OMIM:619059
Senior-Loken Syndrome 9	Retinal dystrophy, Hypogonadism, Macular degeneration, Rod-cone dystrophy, Obesity	OMIM:616629
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy, Obesity	OMIM:600151
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl...	ORPHA:71212
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Recurrent otitis media, Precocious pu...	ORPHA:254531
Bardet-Biedl Syndrome 8	Hypogonadism, Rod-cone dystrophy, Obesity	OMIM:615985
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy, Obesity	OMIM:614651
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hypocholesterolemia, Retinal dystrophy, Sensorineural hearing impairment, Failure to...	OMIM:266510
Abetalipoproteinemia	Abetalipoproteinemia, Retinopathy, Retinal degeneration	OMIM:200100
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Macrotia, Abnormal retinal vascular morphology, Hypopigmente...	ORPHA:2715
Carcinoma Of Esophagus	Weight loss, Obesity	ORPHA:70482
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso...	OMIM:615954
Mental Retardation, X-Linked 91	Obesity	OMIM:300577
Mehmo Syndrome	Diabetes mellitus, EEG abnormality, Large earlobe, Obesity	ORPHA:85282
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Borjeson-Forssman-Lehmann Syndrome	Obesity, Delayed puberty, EEG abnormality, Macrotia	OMIM:301900
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Insulin-resista...	ORPHA:79083
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Impaired glucose tolerance, Glucose intolerance, Retinal degeneration, Obesity	OMIM:615630
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat...	OMIM:269700
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Hyperuricemia, Retinal dystrophy, Rod-cone dystrophy, Obesity	ORPHA:261222
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate...	OMIM:251880
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ...	OMIM:301033
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Polyphagia, Abnormal retinal morphology on macular OCT, Macular dy...	ORPHA:251004
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Sensorineural he...	ORPHA:585
Infantile Liver Failure Syndrome 1	Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to...	OMIM:615438
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi...	OMIM:619072
Primary Lipodystrophy	Cirrhosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries,...	ORPHA:90970
Bangstad Syndrome	Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis...	ORPHA:1227
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Obesity	OMIM:605309
Poretti-Boltshauser Syndrome	Retinal atrophy, Retinal thinning, Retinal dystrophy	OMIM:615960
Lysosomal Acid Lipase Deficiency	Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Increased hepatic echog...	OMIM:278000
Laurence-Moon Syndrome	Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Hypoketotic hypoglycemia,...	ORPHA:5
Rafiq Syndrome	Obesity	OMIM:614202
Retinitis Pigmentosa 1	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:180100
Late Infantile Neuronal Ceroid Lipofuscinosis	EEG with spike-wave complexes, EEG with series of focal spikes, Corpus callosum atrophy, EEG with...	ORPHA:168491
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Simple ear, Decreased amplitude of sensory action potentials, Retinal pigm...	OMIM:618733
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Abnormality of retinal pigmentation, Conductive hearing impairment, Papilledema, Ab...	ORPHA:217085
Xeroderma Pigmentosum, Complementation Group B	Freckling, Pigmentary retinopathy, Cerebellar atrophy, Sensorineural hearing impairment, Decrease...	OMIM:610651
Multiple Sulfatase Deficiency	Hearing impairment, Cerebral atrophy, Cerebellar atrophy, Retinal degeneration	OMIM:272200
Scheie Syndrome	Retinal degeneration	OMIM:607016
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,...	OMIM:613581
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Abnormality of retinal pigmentation, Conductive hearing impairment, Papilledema, Ab...	ORPHA:217093
Frontotemporal Dementia	Polyphagia, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis	OMIM:600274
Multiple Endocrine Neoplasia Type 4	Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu...	ORPHA:276152
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Microtriplication 11Q24.1	Attached earlobe, Posteriorly rotated ears, Hearing impairment, Hyperlipidemia, Obesity	ORPHA:289522
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ...	ORPHA:364055
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Dysphagia, Weight loss, Rod-cone dystrophy, Optic disc pallor	ORPHA:216866
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Low-frequency sensorineural h...	OMIM:613101
Mandibuloacral Dysplasia	Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increase...	ORPHA:2457
Zika Virus Disease	Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Transient hearing impairment, Chori...	ORPHA:448237
Papillorenal Syndrome	Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Sensorineural hearing impairment,...	OMIM:120330
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Flexion c...	OMIM:613327
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Obesity	OMIM:617885
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Macrotia, Retinal degeneration, Low-set ears, Cerebral cortical atrophy, Cafe-au-lait spot, Rod-c...	ORPHA:166035
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati...	OMIM:613464
Rabson-Mendenhall Syndrome	Fasting hypoglycemia, Premature graying of hair, Macrotia, Insulin resistance, Hypothyroidism, Im...	ORPHA:769
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor	OMIM:180105
Retinitis Pigmentosa 79	Macular atrophy, Optic disc pallor	OMIM:617460
Citrullinemia, Type Ii, Adult-Onset	Hepatic steatosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreatitis	OMIM:603471
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