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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 (1299 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, Abnormal retinal vascular morphology, Sensorineural hearing ...	ORPHA:791
Retinal Dystrophy And Obesity		Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,...	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
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Obesity And Hypopigmentation	Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity	OMIM:620195
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Retinitis Pigmentosa Inversa With Deafness	Sensorineural hearing impairment, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov...	ORPHA:79084
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Chromosome Xq21 Deletion Syndrome	Chorioretinal degeneration, Choroideremia, Chorioretinal atrophy, Obesity, Conductive hearing imp...	OMIM:303110
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret...	OMIM:617879
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Ceroid Lipofuscinosis, Neuronal, 6A	Abnormal nervous system electrophysiology, Increased neuronal autofluorescent lipopigment, Retina...	OMIM:601780
Bardet-Biedl Syndrome 16	Obesity, Hypogonadism, Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration, Hearing ...	OMIM:615993
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t...	ORPHA:71529
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ...	ORPHA:791
Ceroid Lipofuscinosis, Neuronal, 2	Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme...	OMIM:204500
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo...	OMIM:615990
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior...	OMIM:300438
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se...	OMIM:618144
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Diabetes And Deafness, Maternally Inherited	Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ...	OMIM:520000
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy, Hearing impairment	OMIM:619090
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis	OMIM:261650
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, EEG abnormality, Neu...	OMIM:610951
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Abnorm...	OMIM:182290
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Sensorin...	ORPHA:3085
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Bardet-Biedl Syndrome 11	Hypogonadism, Retinopathy, Obesity	OMIM:615988
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,...	OMIM:616188
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Ceroid Lipofuscinosis, Neuronal, 1	Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera...	OMIM:256730
Ceroid Lipofuscinosis, Neuronal, 3	Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme...	OMIM:204200
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity	ORPHA:329249
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Retinal detachment, Insulin-resistant diabetes mellitus, Hypertrig...	ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis	OMIM:620357
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Oliver-Mcfarlane Syndrome	Central heterochromia, Hypogonadotropic hypogonadism, Small for gestational age, Decreased respon...	OMIM:275400
Bardet-Biedl Syndrome 10	Hypogonadism, Rod-cone dystrophy, Retinal dystrophy, Obesity	OMIM:615987
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Pigmentary reti...	ORPHA:3363
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Obesity	OMIM:615995
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Alg6-Cdg	Failure to thrive, Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increa...	ORPHA:79320
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Sensorineural hearing impairment, Retinal dystrophy, Obesity, Cerebral atrophy	OMIM:616756
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Low-set ears, ...	OMIM:264470
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Obesity	OMIM:615991
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity	ORPHA:75858
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Leber Congenital Amaurosis 1	Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopathy, Eye ...	OMIM:204000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re...	OMIM:616108
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy, P...	OMIM:617119
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity	OMIM:615983
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H...	OMIM:614480
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli...	OMIM:619389
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal...	OMIM:608709
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes...	ORPHA:276575
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Cofs Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Hypogonadis...	ORPHA:1466
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Anterior hypopituitarism, Hearing impairment	ORPHA:480
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Type II diabetes mellitus	ORPHA:2579
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Optic atrophy, Obesity, Hearing impairment	OMIM:614651
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly...	OMIM:612526
Nephronophthisis 15	Obesity, Retinal degeneration	OMIM:614845
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista...	ORPHA:79085
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Abnormal nervous system elect...	OMIM:256731
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Hypoglycemia, Optic atrophy, Cerebral atrophy, Hyperammon...	ORPHA:391428
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity	OMIM:615703
Ramon Syndrome	Abnormality of retinal pigmentation, Diabetes mellitus, Sensorineural hearing impairment, Conduct...	ORPHA:3019
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Hypogonadism, Obesity, Retinal degeneration	OMIM:615982
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ...	ORPHA:435651
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Rod...	OMIM:615986
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hypoglycemia	OMIM:609016
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen	OMIM:608895
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentation, Retinal dystrophy, Ch...	OMIM:251270
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impairment	ORPHA:65
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Wide anterior fontanel, S...	ORPHA:44
Dysplasia Epiphysealis Hemimelica	Overgrowth	OMIM:127800
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Oculopharyngodistal Myopathy 3	Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Pigmentary ...	OMIM:619473
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi...	ORPHA:644
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Abnormality of the outer ear	ORPHA:2515
Bardet-Biedl Syndrome 2	Diabetes mellitus, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity	OMIM:608320
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Sensorineural hearing impairment, Retinal degeneration	OMIM:616896
Canavan Disease	EEG abnormality, Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment	ORPHA:141
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy	OMIM:551500
Lipodystrophy, Familial Partial, Type 4	Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea...	OMIM:613877
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac...	OMIM:619260
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Obesity, Macular degeneration, Dysphagia, Cereb...	OMIM:604360
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa...	OMIM:144300
Mucolipidosis Iv	Cerebellar atrophy, Optic atrophy, Hypergastrinemia, Retinal degeneration	OMIM:252650
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, Low-set ears	OMIM:616606
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Elevated circulating creatine kinase concentration	OMIM:617613
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Reti...	OMIM:249270
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural...	ORPHA:52368
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ...	ORPHA:435660
Glycosylphosphatidylinositol Biosynthesis Defect 17	Overfriendliness, Abnormal ear morphology, Aggressive behavior, Hypertriglyceridemia	OMIM:618010
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys...	OMIM:610127
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Increase...	OMIM:232700
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Obesity, Aggressive behavior, Hearing impairment	OMIM:620270
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati...	OMIM:617872
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy, Dysphagia	OMIM:164500
Summitt Syndrome	Obesity	OMIM:272350
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac...	OMIM:615238
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte...	OMIM:204100
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus, Hyperuricemia, Hearing imp...	ORPHA:2801
Abcd Syndrome	White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Large...	OMIM:600501
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Neutral Lipid Storage Disease With Myopathy	Diabetes mellitus, Sensorineural hearing impairment, Hypertriglyceridemia, Elevated circulating c...	OMIM:610717
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypot...	ORPHA:819
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Large for gestational age	ORPHA:356996
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ...	ORPHA:276556
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergona...	OMIM:203800
Ravine Syndrome	Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Decr...	ORPHA:99852
Diprosopus	External ear malformation, Abnormality of retinal pigmentation	ORPHA:1681
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Abnormal pinna morphology, Obesity, Congenital hypothyroidism, Large fleshy ears, Congenital stat...	ORPHA:352530
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased circulat...	OMIM:301045
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att...	ORPHA:369873
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Obesity, Hypogonadism, Rod-cone dystrophy, Hearing impairment	OMIM:615996
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a...	ORPHA:1215
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular...	ORPHA:1390
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane...	OMIM:151660
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Failure to thrive in infancy, Hearing impairment	ORPHA:858
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Hepatic steatosis	ORPHA:79087
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,...	ORPHA:95433
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis	OMIM:615980
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas...	ORPHA:263455
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin...	ORPHA:363400
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype...	ORPHA:2849
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Sensorineural hear...	OMIM:619737
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Abnormal thyroid morp...	ORPHA:139507
Refsum Disease, Classic	Sensorineural hearing impairment, Rod-cone dystrophy, Elevated circulating phytanic acid concentr...	OMIM:266500
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Dysphagia, Hearing impairment	ORPHA:329336
Idiopathic Intracranial Hypertension	Papilledema, Vertigo, Pulsatile tinnitus, Obesity	ORPHA:238624
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Pigmentary r...	ORPHA:79264
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Non-Specific Early-Onset Epileptic Encephalopathy	Impulsivity, Optic atrophy, Cerebral atrophy, Hypsarrhythmia, EEG with multifocal slow activity, ...	ORPHA:442835
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Hypogonadism, Obesity	ORPHA:85274
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Hypergonadotropic hypogonadism, Heterochromia iridis, Abnormality of the middle...	ORPHA:90646
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Cryptorchidism, Obesity	OMIM:309585
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los...	ORPHA:528
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Developmental And Epileptic Encephalopathy 28	Retinal degeneration, Optic atrophy, Cerebral atrophy	OMIM:616211
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Temple Syndrome	Hypertriglyceridemia, Posteriorly rotated ears, Small for gestational age, Maturity-onset diabete...	OMIM:616222
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Abnormal helix morphology	ORPHA:1259
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:619048
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy	OMIM:615147
Hernández-Aguirre Negrete Syndrome	Low-set, posteriorly rotated ears, EEG abnormality, Obesity, Delayed puberty	ORPHA:2139
11P15.4 Microduplication Syndrome	Macrotia, Posteriorly rotated ears, Obesity, Aggressive behavior	ORPHA:300305
Mucopolysaccharidosis Type 2	Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggre...	ORPHA:580
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Retinal dystrophy, Puberty and gonadal disorders, Sensorineural hearing impairment, Obesity, Cere...	ORPHA:464282
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten...	OMIM:613464
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Xq21 Microdeletion Syndrome	Stapes ankylosis, Abnormal chorioretinal morphology, Decreased response to growth hormone stimula...	ORPHA:1435
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity	OMIM:610156
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Bardet-Biedl Syndrome 7	Rod-cone dystrophy, Hypogonadism, Obesity	OMIM:615984
Narcolepsy Type 1	Obesity	ORPHA:2073
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Pigmentary reti...	OMIM:614307
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Hernia of the abdominal wall, Obesity	ORPHA:3055
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function	OMIM:616829
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia	ORPHA:26792
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal...	OMIM:617519
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Neuronal loss in central nervous system, Cerebral atrophy, Hypertriglyceridemia	OMIM:615924
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Obesity	OMIM:245800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Hypoalbuminemia,...	OMIM:607250
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Obesity, Pigmentary retinopathy, Hypoplasia of the ovary, Hypo...	ORPHA:110
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Sensorineural hearing impairment, Hydroxyprolinemia, Angioid streaks of the fundus,...	OMIM:239000
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, Corpus cal...	ORPHA:168491
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment	OMIM:234580
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Hypotonia-Cystinuria Syndrome	Posteriorly rotated ears, Facial palsy, Decreased response to growth hormone stimulation test, Hy...	OMIM:606407
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep...	ORPHA:52427
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Hypothyroidism, Abnormal motor evok...	ORPHA:412057
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy	OMIM:616171
6Q16 Microdeletion Syndrome	Abnormal ear morphology, Obesity, Microtia, Abnormal temper tantrums, Low-set ears, Polyphagia	ORPHA:171829
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet...	OMIM:615381
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Cerebral ...	OMIM:222300
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Increased circulating IgG l...	ORPHA:2298
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog...	OMIM:615994
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Retinal deg...	OMIM:615249
Dystonia 30	Hypothalamic hamartoma	OMIM:619291
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A...	OMIM:300148
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy, Elevated circulating creatine ki...	ORPHA:370968
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Leigh Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Failure to thrive, Optic atrophy	OMIM:256000
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal t...	OMIM:620155
Galactokinase Deficiency	Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Sensorineural hearing im...	ORPHA:79237
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity, Low-set ears	OMIM:300209
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Abnormal...	OMIM:268020
Mehmo Syndrome	Diabetes mellitus, Obesity, Large earlobe, EEG abnormality, Agitation	ORPHA:85282
Craniopharyngioma	Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi...	ORPHA:54595
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Retinal dystrophy, Obesity, Hyperuricemia, Attention deficit hyperactivity...	ORPHA:261222
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt...	OMIM:268315
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:600151
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy, Protruding ear	ORPHA:2518
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Congenital Rubella Syndrome	Type I diabetes mellitus, Abnormality of retinal pigmentation, Sensorineural hearing impairment	ORPHA:290
Vici Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, EEG abnorma...	ORPHA:1493
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Rod-cone dystrophy, Retinal coloboma, Obesity	ORPHA:363741
Aceruloplasminemia	Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla...	OMIM:604290
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe fail...	OMIM:246200
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Diabetes mellitus,...	OMIM:209900
11Q22.2Q22.3 Microdeletion Syndrome	Posteriorly rotated ears, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors...	ORPHA:444002
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Abnormal circulating calcium-phosphate regulating hormone co...	ORPHA:2196
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ...	ORPHA:300536
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Hypogonadism, ...	ORPHA:1173
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Huntington Disease	Caudate atrophy, Oral-pharyngeal dysphagia, Aggressive behavior, Cerebral atrophy, Weight loss, A...	ORPHA:399
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Disinhibition, Inappropriate laughter, Neuronal loss in central ne...	OMIM:600274
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size	ORPHA:261483
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h...	ORPHA:79319
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Rod-cone dystrophy, Retinal coloboma, Obesity	OMIM:601794
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ...	ORPHA:96180
Leptin Deficiency Or Dysfunction	Decreased testicular size, Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Eales Disease	Optic disc pallor, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Sensorineural hearing impairment, Retinal atrophy	OMIM:617236
Cln3 Disease	Cerebellar atrophy, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Increased circula...	ORPHA:228346
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Vertigo...	ORPHA:77296
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Type I diabetes mellitus, Fai...	OMIM:560000
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy...	OMIM:608594
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Obesity, Recurrent otitis media, Hyperc...	ORPHA:254531
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Macrotia, Low-set ears, Rod-c...	ORPHA:436245
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Papilledema, Transient hypophosphatemia, Small for gestational age, Retinal c...	OMIM:127000
Angelman Syndrome	Optic disc pallor, Hyperactivity, Hypopigmentation of the skin, Precocious puberty in females, Fa...	ORPHA:72
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Hypogonadism, Obesity	OMIM:615985
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619386
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi...	ORPHA:79086
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Severe Early-Childhood-Onset Retinal Dystrophy	Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re...	ORPHA:364055
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia, Brain atrophy	OMIM:619059
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip...	ORPHA:2348
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Diabetes mellitus, Rod-cone dystrophy, Obesity	OMIM:605231
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater...	ORPHA:79083
Scheie Syndrome	Retinal degeneration	OMIM:607016
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Glucose intolerance, Impaired glucose tolerance, Obesity, Retinal degeneration	OMIM:615630
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold, Protruding ear	OMIM:108145
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Obesity, Abnormal retinal morphology on macular OCT, Brain atrophy, Increased bloo...	ORPHA:251004
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D...	OMIM:300310
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Borjeson-Forssman-Lehmann Syndrome	EEG abnormality, Macrotia, Obesity, Delayed puberty	OMIM:301900
Autosomal Recessive Spastic Paraplegia Type 15	Diabetes mellitus, Pigmentary retinopathy, Pseudobulbar paralysis, Retinal flecks, Yellow/white l...	ORPHA:100996
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Senior-Loken Syndrome 9	Retinal dystrophy, Obesity, Macular degeneration, Hypogonadism, Rod-cone dystrophy	OMIM:616629
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Chung-Jansen Syndrome	Impulsivity, Aggressive behavior, Obesity, Large earlobe, Cafe-au-lait spot, Attention deficit hy...	OMIM:617991
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Obesity, EEG abnormality, ...	ORPHA:411515
Microtriplication 11Q24.1	Attached earlobe, Posteriorly rotated ears, Hyperlipidemia, Obesity, Bruxism, Hearing impairment	ORPHA:289522
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Weight loss, Pigmentary retinopathy, Attention deficit hyperactivity disorder,...	ORPHA:216866
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Macrotia, Cafe-au-lait spot, Low-set ears, Rod-cone dystroph...	ORPHA:166035
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig...	ORPHA:2715
Abetalipoproteinemia	Abetalipoproteinemia, Retinopathy, Retinal degeneration	OMIM:200100
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Maternal diabetes, ...	ORPHA:3157
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso...	ORPHA:217085
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac...	OMIM:270200
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemia, Chorioretin...	ORPHA:5
X-Linked Acrogigantism	Abnormal optic chiasm morphology, Increased body mass index, Decreased thyroid-stimulating hormon...	ORPHA:300373
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Multiple Sulfatase Deficiency	Cerebellar atrophy, Retinal degeneration, Cerebral atrophy, Hearing impairment	OMIM:272200
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Laurence-Moon Syndrome	Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc...	ORPHA:369
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Usher Syndrome Type 1	Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest...	ORPHA:231169
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso...	ORPHA:217093
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:269700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy, Elevated circulating creatine ki...	OMIM:613156
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Abnormality...	ORPHA:585
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Decreased nerve con...	OMIM:618733
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Failure to thrive, Adrenal calcification, Elevated circulati...	OMIM:278000
Griscelli Syndrome Type 1	Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi...	ORPHA:79476
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy	OMIM:616881
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Obesity, Protruding ear, Low-set ears, Chronic otitis media, Hearing i...	ORPHA:480907
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration	ORPHA:370022
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Hepatic steatosis, Thyroid carcinoma, Multiple lipomas	ORPHA:210548
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de...	OMIM:610628
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Obesity, Cerebral atrophy, Polyphagia, Self-mutilation	OMIM:616521
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Failure to thrive	OMIM:618234
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Large for gestational age, Overgrowth, Aplasia/Hypoplasia of the optic ne...	ORPHA:137634
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Retinal degeneration	OMIM:277700
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Seckel Syndrome 10	Retinal detachment, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization, Hearing impairment	OMIM:619074
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Retinal dystrophy, Sensorineural hearing impairment, Elevated circulating phyt...	OMIM:266510
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Obesity, Hypogonadism, Low-set ears, Skin-picking, Pol...	OMIM:615547
Cebalid Syndrome	Abnormal pinna morphology, Posteriorly rotated ears, Low-set ears, Polyphagia, Hearing impairment	OMIM:618774
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparath...	ORPHA:93325
Rotor Syndrome	Jaundice, Storage in hepatocytes, Intermittent jaundice	ORPHA:3111
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Low-frequency sensorineural hearing impairment, Hyp...	OMIM:613101
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Abetalipoproteinemia, Bull's eye maculopathy, Impulsivity, Optic atrophy, ...	ORPHA:157850
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy, Low-set ears	OMIM:608629
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic ...	OMIM:610651
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, P...	ORPHA:177910
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin ...	ORPHA:769
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Global brain atrophy, Hypercholesterolemia, Hypoalbuminemia, Cerebellar vermis atrophy	ORPHA:94124
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity	OMIM:603233
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retinopathy	ORPHA:71
Momo Syndrome	Overgrowth, Underfolded helix, Obesity, Retinal coloboma	OMIM:157980
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:212140
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Trisomy 5P	Obesity, Protruding ear	ORPHA:1742
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypo...	ORPHA:398079
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
White-Sutton Syndrome	Failure to thrive, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive be...	OMIM:616364
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Rod-cone dystrophy, Obesity	OMIM:615633
Pendred Syndrome	Abnormal vestibular function, Increased circulating thyroglobulin level, Congenital sensorineural...	OMIM:274600
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Pick Disease Of Brain	Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor...	OMIM:172700
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Bardet-Biedl Syndrome 20	Papilledema, Obesity, Male hypogonadism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-c...	OMIM:619471
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy	ORPHA:404451
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Macrotia, Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Low-set ears, Rod-cone dystrophy...	OMIM:250410
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti...	ORPHA:468678
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Failure to thrive in infancy, Macular atrophy, Hypoglycemia, Bilateral sens...	OMIM:619418
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Congenital sensorineural hearing impairme...	ORPHA:73272
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Impaired glucose tolera...	OMIM:606721
Trisomy 18P	Polyphagia, Abnormal pinna morphology, Facial palsy, Attention deficit hyperactivity disorder	ORPHA:1715
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight	ORPHA:890
Clark-Baraitser Syndrome	Hyperactivity, Aggressive behavior, Obesity, Large earlobe, Low-set ears	OMIM:617752
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Obesity	OMIM:612291
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Overweight, Atrophy of the spinal cord, Obesity, Dysphagia, Frontal cort...	ORPHA:2822
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti...	OMIM:301013
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Optic atrophy, Retinal co...	ORPHA:2510
Beckwith-Wiedemann Syndrome	Otosclerosis, Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein con...	ORPHA:116
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Iris hypo...	ORPHA:231183
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Obesity	OMIM:616562
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Sensorineural hearing impairment, Macrotia, Cerebral...	OMIM:248500
Refsum Disease	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Retinopathy	ORPHA:773
Birt-Hogg-Dubé Syndrome	Parathyroid adenoma, Abnormality of retinal pigmentation, Medullary thyroid carcinoma	ORPHA:122
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl...	OMIM:261750
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle...	OMIM:613327
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Sensorineural hearing impairment, Primary adrenal insuffic...	OMIM:530000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Hyperthyroidism, Pigmentary retinopathy, Mildly elevated creatine kinase, Incr...	ORPHA:502423
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Congenital hypothyroidism	ORPHA:88643
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Macular coloboma, Atrophy of the spinal ...	ORPHA:79282
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob...	OMIM:300869
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Hypoplasia of the thymus, Abnorm...	OMIM:214110
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Man1B1-Cdg	Truncal obesity, Low-set ears, Multiple cafe-au-lait spots, Macrotia, Polyphagia	ORPHA:397941
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macrotia, Bilateral sensorineural hearing impairment, Obesity	OMIM:300238
17Q24.2 Microdeletion Syndrome	Otosclerosis, Failure to thrive in infancy, Decreased response to growth hormone stimulation test...	ORPHA:529962
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Hepatic steatosis, Hypoketoti...	OMIM:231530
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Macular degeneration, Dysphagia	OMIM:619780
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Decre...	ORPHA:42
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri...	OMIM:618160
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus	ORPHA:1573
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	ORPHA:280365
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepa...	OMIM:602579
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Sensorineural hearing impairment, Hypoalbuminemia, Adrenal in...	OMIM:617575
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Failure to thrive, Hypermelanotic macule, Optic atrophy, Pig...	ORPHA:90321
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,...	OMIM:613843
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Abnormal autonomic nervous system physiology, Dysphagia, Cerebellar cortica...	ORPHA:247234
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Low-set ears	OMIM:617102
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Senso...	ORPHA:193
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Aceruloplasminemia	Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased...	ORPHA:48818
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Elevated circulating creatine kinase concentration, Pigmentary retinopathy, Incr...	OMIM:617675
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Glycosuria, Fa...	ORPHA:436271
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Hypothyroidism, Sensorineural hearing impairment, Obesity, Se...	OMIM:600430
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl...	OMIM:600649
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Restlessness	OMIM:619517
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas...	OMIM:240300
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis	OMIM:201450
Usher Syndrome	Abnormal vestibular function, Abnormality of retinal pigmentation, Sensorineural hearing impairme...	ORPHA:886
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Blue Diaper Syndrome	Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In...	ORPHA:94086
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Wilson-Turner Syndrome	Truncal obesity, Microtia, Hypogonadotropic hypogonadism, Uplifted earlobe	ORPHA:3459
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Increased sarcoplasmic glycogen, Splen...	ORPHA:264580
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Abnormal neuron morphology, Aggressive behavior, Precocious puberty, EEG with gene...	ORPHA:163681
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner...	ORPHA:206436
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent...	OMIM:620185
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Rafiq Syndrome	Aggressive behavior, Obesity, Truncal obesity, Low-set ears, Macrotia	OMIM:614202
Mucopolysaccharidosis Type 3	Mixed hearing impairment, Hyperactivity, Thickened helices, Abnormality of the middle ear ossicle...	ORPHA:581
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Premature pubarche, Hypopigmentation of hair, Impulsivity, Precocio...	ORPHA:398069
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy, EEG abnormality	ORPHA:578
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi...	OMIM:616959
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight	OMIM:620065
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency	ORPHA:977
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Macular degeneration	ORPHA:284289
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Type II diabetes mellitus, Obesity	ORPHA:3191
Momo Syndrome	Underfolded helix, Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrow...	ORPHA:2563
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Diabetes mellitus	ORPHA:96
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Hearing impairment	OMIM:166220
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Aggressive behavior, Obesity, Microtia, Low-set ears, Hearing impairment	OMIM:619056
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull...	OMIM:216550
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se...	ORPHA:88628
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Polyphagia,...	ORPHA:96121
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Glycosuria, Failure to t...	OMIM:220110
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion	OMIM:618929
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C...	ORPHA:79303
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormality of the middle ear, White forelock, Hearing impai...	ORPHA:742
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul...	OMIM:300972
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai...	OMIM:120330
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Posteriorly rotated ears, Aggressive behavior, Protruding ear, Low-set ears, Retinal degeneration	OMIM:618479
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Hepatic steatosis, Decreased liver function	ORPHA:70472
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration, Hypsarrhythmia	ORPHA:542306
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Neurodegeneration, Recurrent otitis media, Hear...	OMIM:309900
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Posteriorly rotated ears, Adrenal hypoplasia, Brushfield spots, Wide anterior ...	OMIM:214100
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, EEG abnormality	ORPHA:1496
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Axial Spondylometaphyseal Dysplasia	Rod-cone dystrophy, Optic atrophy, Peripheral retinal degeneration, Retinal dystrophy	ORPHA:168549
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal testis morphology, Hypogonadism, Obesity	ORPHA:2233
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholester...	ORPHA:2479
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	OMIM:248370
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Obesity, Microtia, Low-set ears, Tall stature	OMIM:618089
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy, Dysphagia, Failure to thrive	OMIM:617282
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,...	OMIM:613027
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Hepatic steat...	OMIM:619013
Type 1 Diabetes Mellitus	Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po...	OMIM:222100
Joubert Syndrome 6	Retinal degeneration, Abnormal repetitive mannerisms, Chorioretinal coloboma	OMIM:610688
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Neuhauser Syndrome	Cupped ear, Large fleshy ears, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, Cerebral ...	OMIM:249310
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology	ORPHA:314621
Osteogenesis Imperfecta, Type I	Otosclerosis, Hearing impairment	OMIM:166200
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu...	ORPHA:101085
19P13.12 Microdeletion Syndrome	Hyperactivity, External ear malformation, Precocious puberty, Sensorineural hearing impairment, H...	ORPHA:254346
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, EEG abnormality, Obesity, Hypoplasia of the ear cartilage	ORPHA:1035
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Neurodegeneration With Brain Iron Accumulation 1	Motor tics, Hyperactivity, Hyperpigmentation of the skin, Optic atrophy, Phonic tics, Pigmentary ...	OMIM:234200
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa...	OMIM:617093
Carpenter Syndrome 1	Abnormal pinna morphology, Precocious puberty, Sensorineural hearing impairment, Optic atrophy, O...	OMIM:201000
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci...	ORPHA:101330
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Mucolipidosis Iii Alpha/Beta	Retinopathy, Increased serum beta-hexosaminidase, Retinal degeneration	OMIM:252600
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Low-set, posteriorly rotated ears, Precocious puberty, Obesity	ORPHA:254525
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hyponatremia, Hypertriglyceridemia, Hypo...	ORPHA:167
Hurler Syndrome	Recurrent otitis media, Neurodegeneration, Retinal degeneration, Hearing impairment	OMIM:607014
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Elevated circulating creatine kinase concentration, Axonal degeneration, Hypo...	OMIM:208920
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart...	OMIM:256810
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Pseudohypoparathyroidism, Obesity	OMIM:612463
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Obesity, Compulsive behaviors, Low-...	OMIM:618430
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concen...	ORPHA:444490
Hyperlipoproteinemia, Type I	Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification	ORPHA:75234
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Aggressive behavior, Pica, Obesity, Protruding ear, Large earlobe, Overfolded helix, Prominent an...	OMIM:620191
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity, Hepatic steatosis	ORPHA:412
Secondary Short Bowel Syndrome	Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Cent...	ORPHA:95427
Hydrocephalus-Obesity-Hypogonadism Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity	ORPHA:2183
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Sensorineural hearing impairment, Obesity, Type I diabetes mellitus, Retinopathy	OMIM:619269
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Sensorineural hearing impairment, Obesity, Central nervous system degenerat...	ORPHA:98907
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Disproportionate tall stature, Failure to thrive, Hepatic steatosis, Pancreatiti...	OMIM:236200
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemi...	OMIM:616267
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating ferritin concentration, Pigmentary retinopathy, Delayed puberty, Hypopituit...	OMIM:600462
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:610198
Alagille Syndrome 1	Failure to thrive, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy, Papillary...	OMIM:118450
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Truncal obesity, Obesity, Hearing impairment	OMIM:618363
Lipase Deficiency, Combined	Hypertriglyceridemia, Type II diabetes mellitus	OMIM:246650
Methanol Poisoning	Hyperlipidemia, Abnormal optic nerve morphology, Type II diabetes mellitus, Addictive alcohol use...	ORPHA:31825
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cerebral atrophy, Microtia, Obesity, Low-set ears	ORPHA:171839
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature	ORPHA:3210
Cog4-Cdg	Frontotemporal cerebral atrophy, Hypercholesterolemia, Failure to thrive in infancy	ORPHA:263501
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, A...	OMIM:277460
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Protruding ...	ORPHA:192
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Large earlobe, Low-set ears, Dysph...	OMIM:619312
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado...	ORPHA:2959
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase...	OMIM:236670
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Abdominal obesity, Hypogonadism, D...	OMIM:300354
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Aromatase Deficiency	Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys...	ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Obesity, Bruxism, Male hypogonadism, Macrotia, EEG with generalized slow activity	OMIM:300055
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Otosclerosis 10	Otosclerosis	OMIM:615589
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Hypothyroidism, Decreased response to growth hormone s...	ORPHA:96179
13Q12.3 Microdeletion Syndrome	Hyperactivity, Obesity, Chronic otitis media, Failure to thrive, Self-mutilation, Hearing impairment	ORPHA:412035
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea...	OMIM:201475
Atkin-Flaitz Syndrome	Macrotia, Obesity	ORPHA:1193
Congenital Bile Acid Synthesis Defect Type 4	Type II diabetes mellitus, Pigmentary retinopathy, Hypogonadism, Elevated circulating creatine ki...	ORPHA:79095
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentia...	OMIM:216400
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Posteriorly rotated ears, Low-set ears	OMIM:612582
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino...	ORPHA:485
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia	OMIM:608600
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:613668
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
48,Xxyy Syndrome	Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Cryptorchidis...	ORPHA:10
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Failure to thrive, Small for gestational age, Conjugated hyperbilirubinemia, ...	OMIM:614866
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Failure to thrive, Hyperhomocystinemia, Cystathioninem...	OMIM:277400
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur...	OMIM:614300
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Luscan-Lumish Syndrome	Aggressive behavior, Obesity, Overgrowth, Recurrent otitis media, Polyphagia	OMIM:616831
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat...	ORPHA:2088
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Axonal degeneration, Degeneration of anterior horn cells, Hyperglycemia, Mildly e...	OMIM:604484
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Low-set ears, Polyphagia	OMIM:612469
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc...	ORPHA:453533
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	OMIM:614921
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Weight loss	ORPHA:3208
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, ...	ORPHA:369837
Central Precocious Puberty In Male	Pituitary microadenoma, Hypothalamic hamartoma	ORPHA:649929
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati...	ORPHA:79322
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Truncal obesity	ORPHA:2928
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Cryptorchidism, Increased circulating IgE level, Obesity, Hypogonadism, ...	ORPHA:3409
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Aggressive behavior, Obesity, Microtia, Overgrowth, Macrotia, Hearing impairment	OMIM:620250
X-Linked Intellectual Disability, Stevenson Type	Thickened helices, Abnormal pinna morphology, Obesity, Tall stature	ORPHA:85325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co...	OMIM:613154
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per...	ORPHA:206443
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Retinal pigment epithelial mottling	OMIM:614105
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c...	OMIM:615830
Chops Syndrome	Thickened helices, Optic atrophy, Obesity, Hearing impairment	OMIM:616368
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo...	ORPHA:228305
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal degeneration, Retinal hemorrhage, ...	ORPHA:90324
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Obesity, Cerebral atrophy	OMIM:617296
Mitochondrial Dna-Associated Leigh Syndrome	Failure to thrive, Sensorineural hearing impairment, Low plasma citrulline, Optic atrophy, Pigmen...	ORPHA:255210
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Low-set ears, Protruding ear	OMIM:614230
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	EEG with focal epileptiform discharges, Optic atrophy, Obesity, EEG with abnormally slow frequencies	OMIM:618493
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Hypoglycemia, Insulin resistance, Vertigo, Elevated circulating creatini...	ORPHA:230
Nephronophthisis 11	Polydipsia, Retinal degeneration	OMIM:613550
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Cone/cone-rod dystrophy, Restless legs, Abnormal fundus morphology, Cerebral ...	ORPHA:94147
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Sensorineural hearing impairment, Obesity, Pseudohypoparathy...	ORPHA:464288
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec...	ORPHA:909
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Baralle-Macken Syndrome	Cafe-au-lait spot, Obesity, Global brain atrophy	OMIM:619255
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:615486
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Cerebellar atrophy, Abnormality of ret...	ORPHA:466768
Ramon Syndrome	Optic disc pallor, Decreased body weight, Pigmentary retinopathy, Hearing impairment	OMIM:266270
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,...	ORPHA:50
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac...	ORPHA:298
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Cornelia De Lange Syndrome 5	Truncal obesity, Hypogonadism, Hearing impairment	OMIM:300882
Acrodysostosis 2 With Or Without Hormone Resistance	Cryptorchidism, Diabetes mellitus, Obesity, Congenital hypothyroidism	OMIM:614613
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Blue irides, Protruding ear, Abnormal antihelix morphology, Truncal obesity, Hypogonadism, Cafe-a...	ORPHA:3041
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Hypoglycemia	OMIM:210200
Cockayne Syndrome	Cerebellar atrophy, High-frequency sensorineural hearing impairment, Optic disc pallor, Retinal a...	ORPHA:191
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia	OMIM:212138
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Failur...	ORPHA:94065
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Cachexia, Anorexia, Abnormality of the thyroid gland, Melano...	ORPHA:1969
Melas	Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Sensorineural hearing impai...	ORPHA:550
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Inappropria...	ORPHA:79330
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture...	OMIM:616263
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce...	ORPHA:91355
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine ki...	ORPHA:2785
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529808
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529799
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Cupped ear, Protruding ear, Self-injurious behavior, Microtia, Inappropriate...	OMIM:156200
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Protruding ear, Truncal obesity, Low-...	ORPHA:3224
Norrie Disease	Retinal detachment, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Retinal...	OMIM:310600
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Hypertriglyceridemia, Diabetes mellitus, Abnormal circulatin...	ORPHA:79474
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t...	OMIM:615300
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Optic disc drusen, Angioid streaks of the fundu...	OMIM:264800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short...	OMIM:609136
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Abnormal vestibular function, Retinal pigment epithelial mottling, Sensorineural hearing impairme...	OMIM:607459
Norrie Disease	Retinal detachment, Failure to thrive, Diabetes mellitus, Abnormal chorioretinal morphology, Remn...	ORPHA:649
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Hypothyroidism, Sensorineural hearing impairment, Optic atroph...	ORPHA:1606
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Protruding ear, Compulsive behaviors...	ORPHA:534
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Failure to thrive in infancy, Hypogonadot...	OMIM:176270
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,...	ORPHA:3077
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu...	ORPHA:98908
Trichothiodystrophy	Protruding ear, Macular degeneration, Numerous pigmented freckles, Bilateral sensorineural hearin...	ORPHA:33364
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros...	ORPHA:541423
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Obesity, EEG abnormality, I...	ORPHA:411511
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
X-Linked Intellectual Disability, Shashi Type	Macrotia, Obesity	ORPHA:85286
Carpenter Syndrome	Cryptorchidism, Umbilical hernia, Obesity, Polysplenia	ORPHA:65759
Cockayne Syndrome B	Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Decrea...	OMIM:133540
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Sensorineural hearing impairment, Small for gestational age, Truncal o...	OMIM:300957
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Sensorineural hearing impairment, Hypertriglyceride...	ORPHA:540
Chromosome 1P36 Deletion Syndrome, Distal	Thickened helices, Conductive hearing impairment, Hypothyroidism, Self-mutilation, Oppositional d...	OMIM:607872
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Mixed hearing impairment, Obesity, Low-set ears, Thickened helices, Overfolded helix, Neonatal hy...	OMIM:608624
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to th...	OMIM:193700
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:619072
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Wagr Syndrome	Hearing abnormality, Obesity	ORPHA:893
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormality of skin pigmentation, Obesity, Low-set ears	ORPHA:2180
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Failure to thrive,...	ORPHA:99901
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion	OMIM:613724
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Posteriorly rotated ears, Overweight, Obesity, Stereotypical hand wri...	OMIM:619229
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose...	OMIM:219090
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, EEG with abnormally slow frequ...	ORPHA:98794
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Obesity, Cryptorchidism	OMIM:619185
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Anorexia, Optic atrophy, Disproportionat...	ORPHA:394
Retinoblastoma	Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma	OMIM:180200
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Down Syndrome	Aganglionic megacolon, Obesity, Type II diabetes mellitus, Round ear, Conductive hearing impairme...	ORPHA:870
Werner Syndrome	Abnormality of retinal pigmentation, Insulin resistance, Premature graying of hair, White foreloc...	ORPHA:902
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
Xp22.13P22.2 Duplication Syndrome	Truncal obesity, Attention deficit hyperactivity disorder, Hearing impairment	ORPHA:284180
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormality of the endocrine ...	ORPHA:636
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis	OMIM:231680
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification	OMIM:618317
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis	OMIM:619273
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitiv...	OMIM:610253
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion	OMIM:619057
Mend Syndrome	Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Wide anterior fontanel, ...	ORPHA:401973
Pediatric-Onset Graves Disease	Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu...	ORPHA:525731
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity	ORPHA:79445
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ...	OMIM:103580
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology	ORPHA:68
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Pigmentary retinopathy, Hypocalcemia, Hypoketot...	ORPHA:746
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Obesity	ORPHA:96168
Lowry-Wood Syndrome	Pigmentary retinopathy, Small for gestational age	OMIM:226960
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Clark-Baraitser syndrome	Macroorchidism, Obesity, Tall stature	OMIM:300602
Marbach-Schaaf Neurodevelopmental Syndrome	Posteriorly rotated ears, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder,...	OMIM:619680
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi...	ORPHA:348
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid...	OMIM:619487
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating IgG level, Hypergonadotropic h...	OMIM:212065
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Exudative retinopathy, Vitreoretinopathy	OMIM:259770
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity, Polysplenia	OMIM:610543
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Hypogonadism, Delayed puberty, Hyperpigmentation of the ...	ORPHA:168569
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Precocious puberty, In...	ORPHA:813
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Alport Syndrome	Macular degeneration, Sensorineural hearing impairment, Retinal flecks, Dysphagia	ORPHA:63
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Abnormality of skin pigmentation, Tics, Otitis media, Chorioretinal coloboma, Com...	OMIM:619475
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Posteriorly rotated ears, Obesity, Hearing impair...	ORPHA:439822
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, I...	ORPHA:79240
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia, Increased ci...	ORPHA:3240
Congenital Myopathy 9A	Cryptorchidism, Obesity	OMIM:618822
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity	ORPHA:397973
Abetalipoproteinemia	Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Failure to thrive, ...	ORPHA:14
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Obesity, Cerebral atrophy, Protruding ear, Low-set ears, Compulsive behaviors	OMIM:618443
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive...	OMIM:620330
Borjeson-Forssman-Lehmann Syndrome	Large earlobe, Hypogonadism, Truncal obesity, Hearing impairment	ORPHA:127
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins...	ORPHA:508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, EEG abnormali...	OMIM:253280
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Pearson Syndrome	Hypoparathyroidism, Diabetes mellitus, Small for gestational age, Decreased response to growth ho...	ORPHA:699
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c...	ORPHA:247691
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Hyperactivity, Retinal pigment epithelial mottling, Progressive viti...	OMIM:251260
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Aggressive behavior, Polyphagia, Low-set ears, Abnormality of the outer ear, Self-m...	ORPHA:251028
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi...	ORPHA:3464
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Vertigo, Obesity, Hyperproteinemia, Increase...	ORPHA:90041
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Obesity, Attention deficit hyperactivity disorder, Conductive h...	ORPHA:261197
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism...	ORPHA:90674
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Cachexia, Aggressive behavior, Abnormal earlobe morphology, Obesity, EEG abnormali...	ORPHA:85293
Adnp Syndrome	Oral-pharyngeal dysphagia, Aggressive behavior, Cerebral atrophy, Protruding ear, Truncal obesity...	ORPHA:404448
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Failure to thrive, Agangl...	ORPHA:175
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Failure to thrive, Dysphagia	OMIM:618460
Familial Multiple Lipomatosis	Insulin resistance, Chorioretinitis, Hyperlipidemia, Overgrowth	ORPHA:199276
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Posteriorly rotated ears, Facial palsy, Decreased response to growth hormone stimu...	OMIM:615873
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ...	OMIM:608836
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Optic atrophy, Obesity	OMIM:614947
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Rod-cone dystrophy, Optic atrophy, Protruding ear, Macular deg...	ORPHA:3132
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, Hypopigmentation of the s...	OMIM:219800
Angelman Syndrome	Hyperactivity, Blue irides, Obesity, EEG abnormality, Cerebral cortical atrophy, Fair hair, Hypop...	OMIM:105830
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Diabetes mellitus, Decreased response to ...	ORPHA:739
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Protruding ear, Disproportionate tall stature, Abdominal obesity, Attention ...	OMIM:301039
Achondroplasia	Wide anterior fontanel, Functional abnormality of the middle ear, Obesity, Hearing impairment	ORPHA:15
Megalencephaly	Macroorchidism, Truncal obesity	ORPHA:2477
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia...	ORPHA:93111
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obe...	ORPHA:26793
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Abnormal blood ion concentration, Pigmentary retinopathy, Hypo...	ORPHA:411629
Immunodeficiency 97 With Autoinflammation	Recurrent otitis media, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Alexander Disease Type I	Abnormal thalamic MRI signal intensity	ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea...	OMIM:618329
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Abnormality of t...	ORPHA:2556
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Microvesicular hepatic steatosis,...	OMIM:617156
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu...	OMIM:270450
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr...	OMIM:619377
Kleefstra Syndrome	Aggressive behavior, Chronic otitis media, Self-mutilation, Obesity, Self-injurious behavior, Thi...	ORPHA:261494
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Failure to thrive, Small for gest...	ORPHA:404454
Vici Syndrome	Hypopigmentation of hair, Macular atrophy, Elevated circulating creatine kinase concentration, Al...	OMIM:242840
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Addictive alcohol use, Hypercholesterolemia, Hyperglycemia, Hypothyroidism	ORPHA:90065
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, EEG with burst suppression, Optic atrophy, Obesity, Hypsarrhythmia, Hypogonadism	OMIM:614231
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Obesity, Protruding ear	ORPHA:247768
2Q37 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Conductive hearing impai...	ORPHA:1001
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Severe failure to thrive, Retinal atrophy, Optic atrophy	ORPHA:97297
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia	ORPHA:445038
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
48,Xxxy Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Hypogonadism, Type I...	ORPHA:96263
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl...	OMIM:307030
Trisomy 18	Low-set, posteriorly rotated ears, Pointed helix, Abnormality of retinal pigmentation, Cachexia	ORPHA:3380
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Posteriorly rotated ears, Optic disc hypoplasia, Hypogonadotropic hypogonad...	ORPHA:3455
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra...	OMIM:607485
Bardet-Biedl Syndrome 12	Rod-cone dystrophy, Hypogonadism, Obesity	OMIM:615989
Kleefstra Syndrome Due To 9Q34 Microdeletion	Obesity, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Failure to thrive, Cerebral...	ORPHA:96147
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Trisomy 10P	Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit...	ORPHA:171929
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Mixed hearing impairment, Sensorineural hearing impairment	OMIM:272460
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Weaver Syndrome	Macrotia, Overgrowth, Polyphagia, Melanocytic nevus	OMIM:277590
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Tubulinopathy-Associated Dysgyria	Abnormal thalamus morphology	ORPHA:467166
Ring Chromosome Y Syndrome	Streak ovary, Unilateral cryptorchidism, Cryptorchidism, Obesity, Male hypogonadism	ORPHA:261529
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Bloom Syndrome	Small for gestational age, Cryptorchidism, Decreased circulating total IgM, Type II diabetes mell...	OMIM:210900
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Cryptorchidism, Streak ovary, Obesity	OMIM:194072
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Sensorineural hearing impairment, Insulin resistance, Truncal obesity, Abnorma...	OMIM:616541
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Low-set ears, Attention def...	OMIM:616078
Farber Disease	Macular degeneration, Cherry red spot of the macula, Failure to thrive, Brain atrophy	ORPHA:333
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog...	ORPHA:2126
Wilson Disease	Hypoparathyroidism, Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotran...	OMIM:277900
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Posteriorly rotated ears, Aggressive behavior, Obesity, Prominent antihelix, Truncal obesity, Sel...	ORPHA:466950
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm	ORPHA:404443
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Abdominal obesity, Hypoplasia of the ov...	OMIM:619321
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Retinal degeneration	OMIM:208500
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Classical-Like Ehlers-Danlos Syndrome Type 2	Diabetes mellitus, Macrotia, Hypertriglyceridemia	ORPHA:536532
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Hypothalamic hamartoma	OMIM:241800
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Obesity	ORPHA:93952
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion	ORPHA:254881
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothalamic hamartoma	OMIM:619908
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami	OMIM:617542
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Bloom Syndrome	Hypopigmentation of the skin, Diabetes mellitus, Small for gestational age, Insulin resistance, A...	ORPHA:125
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Hypopigmentation of the skin, Posteriorly rotated ears, Hypoglyce...	OMIM:301066
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
8P23.1 Microdeletion Syndrome	External ear malformation, Obesity, Weight loss, Attention deficit hyperactivity disorder, Low-se...	ORPHA:251071
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia	OMIM:616271
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Aganglionic megacolon, Retinal arteriolar tortuosity, Optic ...	ORPHA:567
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Hearing impairment	OMIM:309801
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Optic atrophy, Hypoalbuminemia, Brain atrophy	ORPHA:505248
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, Hypopig...	ORPHA:2637
Shox-Related Short Stature	Obesity	ORPHA:314795
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Obesity, Promine...	ORPHA:466943
Fabry Disease	Conjunctival telangiectasia, Anorexia, Vertigo, Sensorineural hearing impairment, Optic atrophy, ...	ORPHA:324
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Posteriorly rotated ears, Underdeveloped superior crus of antihelix, Abnormality of the pineal gl...	ORPHA:369950
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Jaundic...	ORPHA:20
3Q29 Microduplication Syndrome	Obesity, Low-set ears, Hearing impairment	ORPHA:251038
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole...	OMIM:124000
Senior-Loken Syndrome 8	Rod-cone dystrophy, Retinal dystrophy, Macular atrophy	OMIM:616307
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypoth...	ORPHA:66634
Distal Deletion 12Q	Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo...	ORPHA:96149
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Achilles tendon contracture, Obesity	OMIM:615418
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h...	OMIM:613658
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carcinoma, Thyro...	ORPHA:79259
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Elevated circulat...	ORPHA:91500
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h...	ORPHA:744
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu...	OMIM:229600
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:881
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Long ear, Self-m...	ORPHA:293948
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased ...	ORPHA:177907
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sensorineu...	ORPHA:478
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Failure to thrive, Fair hair, Posteriorly rotated ears, Retinal dystrophy, Wide anterior fontanel...	OMIM:266920
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Adrenal calcifi...	ORPHA:275761
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Knobloch Syndrome	Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology	ORPHA:1571
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Flexion contracture, Increased circulating IgM level, Macrovesicular ...	OMIM:617303
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hepatic calcification, Hepatic failure, Hepatic steatosis, Hypoketotic hypoglycemia	ORPHA:228308
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Liver Disease, Severe Congenital	Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi...	OMIM:619991
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Obesity, Dysphagia, Decreased body weight	ORPHA:589821
Oculoskeletodental Syndrome	Abnormal thalamus morphology	ORPHA:557003
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Impaired glucos...	OMIM:256040
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Flexion contracture, Increased intramy...	ORPHA:17
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia, Delayed puberty, ...	OMIM:232200
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Adiposis Dolorosa	Hypothyroidism, Obesity	ORPHA:36397
Tangier Disease	Facial diplegia, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Obesity...	OMIM:309580
Hardikar Syndrome	Decreased serum insulin-like growth factor 1, Vertigo, Pigmentary retinopathy, Hyperbilirubinemia...	OMIM:301068
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplasia of the thymus	OMIM:619313
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus	ORPHA:1947
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Overgrowth, Small for gestational age, Large for gestational age	ORPHA:254534
Kabuki Syndrome	Failure to thrive, Precocious puberty, Sensorineural hearing impairment, Obesity, Protruding ear,...	ORPHA:2322
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Overweight, Obesity	ORPHA:247353
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth...	OMIM:300868
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Obesity	ORPHA:563
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Gaucher Disease, Type I	Macular atrophy, Hyperpigmentation of the skin	OMIM:230800
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal thalamus morphology	ORPHA:404440
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology	ORPHA:88619
Diamond-Blackfan Anemia 21	Obesity, Low-set ears, Protruding ear	OMIM:620072
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Conductive hearing impairment, Recurrent otitis media, Obesity	OMIM:250420
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Carney Complex	Pituitary growth hormone cell adenoma, Increased body weight, Thyroid carcinoma, Papillary thyroi...	ORPHA:1359
Ulnar-Mammary Syndrome	Camptodactyly of finger, Cryptorchidism, Obesity, Breast aplasia, Hypoplastic nipples, Delayed pu...	ORPHA:3138
Digeorge Syndrome	Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Impaired T cell function, Decreased cir...	OMIM:188400
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Xylt1-Cdg	Hepatomegaly, Truncal obesity	ORPHA:370930
Microcephalic Primordial Dwarfism, Dauber Type	Microtia, Obesity	ORPHA:319675
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko l...	OMIM:210720
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Increased circulating antibod...	OMIM:615846
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Posteriorly rotated ears, Small for gestational age, Increased serum testos...	OMIM:264090
White-Kernohan Syndrome	Obesity, Low-set ears, Attention deficit hyperactivity disorder, Recurrent otitis media, Macrotia...	OMIM:619426
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Glycogen Storage Disease Ib	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty, Lipemia retinalis	OMIM:232220
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion	OMIM:619046
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology	ORPHA:435638
Cach Syndrome	T2 hypointense thalamus	ORPHA:135
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Williams-Beuren Syndrome	Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Retinal arteriolar tortuosity, Se...	OMIM:194050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Decreased response to growth hormone...	ORPHA:444077
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomega...	OMIM:618278
Monosomy 22Q13.3	Hyperactivity, Hearing impairment, Hair-pulling, Obesity, Bruxism, Macrotia, Cerebellar cortical ...	ORPHA:48652
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia	OMIM:617591
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Hyperpigmentation of the skin, Hearing impairment	ORPHA:90153
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:615356
Pmm2-Cdg	Failure to thrive, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Elevated circulating...	ORPHA:79318
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity	ORPHA:444013
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Optic disc coloboma, Obesity, Pseudohypoparathyroidism	OMIM:617157
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ...	OMIM:301072
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overfolded helix, Abnormal repetitive mannerisms, Obesity, Low-set ears	OMIM:618653
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr...	OMIM:619573
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary carcinoid tumor	ORPHA:363618
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity	ORPHA:309155
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
45,X/46,Xy Mixed Gonadal Dysgenesis	Low-set, posteriorly rotated ears, Streak ovary, Increased circulating gonadotropin level, Obesit...	ORPHA:1772
Williams Syndrome	Elevated circulating creatine kinase concentration, Protruding ear, Compulsive behaviors, Chronic...	ORPHA:904
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal thalamus morphology	ORPHA:300570
Schinzel-Giedion Syndrome	Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Wid...	ORPHA:798
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Neuroferritinopathy	T2 hypointense thalamus, Abnormal thalamic MRI signal intensity	ORPHA:157846
Arima Syndrome	Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:243910
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulating ferritin conc...	OMIM:619534
Primrose Syndrome	Restlessness, Calcification of the auricular cartilage, Diabetes mellitus, Hypergonadotropic hypo...	OMIM:259050
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon	ORPHA:2720
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Combined Oxidative Phosphorylation Defect Type 7	Abnormal thalamic MRI signal intensity	ORPHA:254930
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, Gluc...	OMIM:619127
Congenital Muscular Dystrophy With Cerebellar Involvement	Decreased thalamic volume	ORPHA:370959
Myhre Syndrome	Small for gestational age, Obesity, Microtia, Low-set ears, Hearing impairment	OMIM:139210
Witteveen-Kolk Syndrome	Hyperactivity, Glue ear, Small for gestational age, Decreased response to growth hormone stimulat...	OMIM:613406
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353277
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal thalamic MRI signal intensity	ORPHA:485421
Rhombencephalosynapsis	Fusion of the left and right thalami	ORPHA:59315
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Truncal obesity, Failure to thrive, Pancreatitis	OMIM:222700
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology	ORPHA:79139
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag...	OMIM:309000
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Rubinstein-Taybi Syndrome 1	Hyperactivity, Small for gestational age, Hearing impairment, Impulsivity, Premature thelarche, W...	OMIM:180849
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Precocious puberty, Splenomegaly, Cryptorchidism, Cholestatic liver disease, Cirrho...	OMIM:270400
Sotos Syndrome	Overgrowth, Increased body weight, Tall stature	OMIM:117550
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Failure to thrive, Obesity, Hypsarrhythmia	ORPHA:75857
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:70595
Ogden Syndrome	Inguinal hernia, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Cryptorchidism, H...	OMIM:300855
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Decreased response to grow...	OMIM:619503
Congenital Disorder Of Deglycosylation 2	Hypothalamic hamartoma	OMIM:619775
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets...	OMIM:220111
Primary Triglyceride Deposit Cardiomyovasculopathy	Sensorineural hearing impairment, Diabetes mellitus, Elevated circulating creatine kinase concent...	ORPHA:565612
Hydranencephaly	Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland	ORPHA:2177
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Cornelia De Lange Syndrome	Low-set, posteriorly rotated ears, Failure to thrive, Sensorineural hearing impairment, Delayed p...	ORPHA:199
Acute Disseminated Encephalomyelitis	Abnormal thalamic MRI signal intensity	ORPHA:83597
Leigh Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:506
Carpenter Syndrome 2	Posteriorly rotated ears, Sensorineural hearing impairment, Obesity, Protruding ear, Low-set ears	OMIM:614976
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Sensorineural hearing impairment, Protruding ear, Truncal obesity, Self-injurious behavior, Low-s...	OMIM:612474
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contra...	OMIM:181450
Pallister-Hall Syndrome	Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma	OMIM:146510
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami	OMIM:619306
Tay-Sachs Disease	Abnormal thalamic MRI signal intensity	ORPHA:845
Orofaciodigital Syndrome Type 6	Hypothalamic hamartoma	ORPHA:2754
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty, Hyperpigmentation of the skin	ORPHA:90154
Orofaciodigital Syndrome Vi	Hypothalamic hamartoma	OMIM:277170
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Hypothalamic hamartoma	OMIM:206900
Leukocyte Adhesion Deficiency	Impaired neutrophil chemotaxis, Peritonitis, Abnormality of neutrophil physiology, Hyperinsulinem...	ORPHA:2968
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage	ORPHA:464321
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent...	ORPHA:70591
Orofaciodigital Syndrome I	Hypothalamic hamartoma	OMIM:311200
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume	ORPHA:168577
Tako-Tsubo Cardiomyopathy	Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration	ORPHA:66529
Hellp Syndrome	Increased body weight	ORPHA:244242
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity	ORPHA:79138
Holoprosencephaly 7	Fusion of the left and right thalami, Panhypopituitarism	OMIM:610828
Pallister-Killian Syndrome	Posteriorly rotated ears, Wide anterior fontanel, Hyperpigmented streaks, Obesity, Hypopigmented ...	OMIM:601803
Pallister-Hall Syndrome	Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothyroidism, Abnorm...	ORPHA:672
Glycogen Storage Disease Ic	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty	OMIM:232240

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tub

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tub.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Tubb4b is required for multi-ciliogenesis in the mouse.	Development (Cambridge, England) (January 2024)	Tubb4b^{tm2a(EUCOMM)Wtsi} Tubb4b^{tm2b(EUCOMM)Wtsi} Tubb4a^{tm1(KOMP)Wtsi}	PMC10820790
Mouse oocytes develop in cysts with the help of nurse cells.	Cell (May 2022)	Tuba1c^em1(IMPC)J Tubb2b^em1(IMPC)J	35623357
A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy.	Science advances (February 2022)	Tubb4a^{tm1(KOMP)Wtsi}	PMC8849301
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Tuba3a^{tm1b(KOMP)Wtsi} Tuba4a^{em1(IMPC)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Tuba3a^{tm1b(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Tuba3a^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Tuba3a^{tm1b(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Tuba3a^{tm1b(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Tub^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tub^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Tub^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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