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 (1268 diseases)

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

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

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