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Gene: Clcn2 MGI:105061

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

chloride channel, voltage-sensitive 2

Synonyms:

Clc2, ClC-2, nmf240

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 Clcn2 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 Clcn2 (5 diseases)
Human diseases predicted to be associated with Clcn2 (1577 diseases)

The table below shows human diseases associated to Clcn2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hypertension, Hyperaldosteronism	OMIM:605635
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati...	ORPHA:404
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Retinoschisis, Optic neuropathy, Chorioretinal atrophy	OMIM:615651
Juvenile Myoclonic Epilepsy	EEG with polyspike wave complexes	ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 11		OMIM:607628

The table below shows human diseases predicted to be associated to Clcn2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension	OMIM:617027
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hypertension, Hyperaldosteronism	OMIM:605635
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	OMIM:103900
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility	ORPHA:98797
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada...	ORPHA:98798
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting, Hyper...	OMIM:264350
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib...	ORPHA:52901
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote...	OMIM:177735
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Trimethylaminuria	Tachycardia, Trimethylaminuria, Hypertension	OMIM:602079
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal...	OMIM:613677
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary...	ORPHA:231625
Cone-Rod Dystrophy 7	Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy	OMIM:603649
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Variegate Porphyria	Elevated urinary delta-aminolevulinic acid, Tachycardia, Increased urinary porphobilinogen, Porph...	OMIM:176200
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Hyperaldosteronism, Increased uri...	OMIM:607364
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Cryptorchidism, Retinal degeneration, Rod-cone dystrophy	OMIM:615982
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Increased circulating renin level	OMIM:619406
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Macular Dystrophy, Patterned, 3	Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy	OMIM:617111
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Cryptorchidism, Re...	OMIM:275400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia, Gonadal dysgenesis	OMIM:615041
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati...	ORPHA:404
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R...	OMIM:610951
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis...	ORPHA:403
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Macular Dystrophy, Retinal, 1, North Carolina Type	Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy	OMIM:136550
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Hypogonadism, Cryp...	ORPHA:3363
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hypercalciuria, Prolonge...	ORPHA:251274
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,...	OMIM:619177
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ...	ORPHA:231580
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
Stargardt Disease 3	Macular atrophy, Macular dystrophy, Macular flecks	OMIM:600110
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Deleted in azoospermia	Azoospermia	OMIM:400003
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Morm Syndrome	Micropenis, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:609923
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin...	OMIM:620103
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Pseudohypoaldosteronism, Type Iib	Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614495
Cone-Rod Dystrophy 22	Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b...	OMIM:619531
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal...	OMIM:613090
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Pseudohypoaldosteronism, Type Iia	Hypertension, Hyperkalemia, Pseudohypoaldosteronism	OMIM:145260
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Cerebellar atrophy, Male infertility	ORPHA:276183
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia, Cerebellar atrophy	OMIM:613909
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Elevated urinary delta-...	OMIM:121300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
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
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Peripheral ax...	OMIM:619389
Andersen-Tawil Syndrome	Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular...	ORPHA:37553
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Increased circulating free T4 c...	OMIM:613239
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Retinal Cone Dystrophy 1	Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:180020
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperplasia, Nephrol...	ORPHA:369929
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Spermatogenic Failure 17	Male infertility	OMIM:617214
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Bardet-Biedl Syndrome 16	Hypogonadism, External genital hypoplasia, Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Peripheral axonal de...	OMIM:606482
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Bardet-Biedl Syndrome 2	Hypogonadism, External genital hypoplasia, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276575
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism	OMIM:262700
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy	OMIM:551500
Pseudohypoaldosteronism, Type Iie	Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614496
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Abnormal peripheral action ...	ORPHA:457205
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,...	OMIM:615184
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Hypokalemia, Hyperthyroidism, Tachycardia	OMIM:188580
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Peripheral axonal neuropathy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy	OMIM:619090
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Cone-Rod Dystrophy 11	Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Ceroid Lipofuscinosis, Neuronal, 2	Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme...	OMIM:204500
Ectopic Aldosterone-Producing Tumor	Epistaxis, Renal cortical adenoma, Hypokalemia, Decreased circulating renin level, Hypertension, ...	ORPHA:231632
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, H...	OMIM:612780
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Basal lamina onion bulb fo...	OMIM:214400
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
47,Xyy Syndrome	Varicocele, Dysgenesis of the cerebellar vermis, Male infertility, Abnormal brainstem morphology,...	ORPHA:8
Cednik Syndrome	Abnormal corpus callosum morphology, Optic atrophy, Polymicrogyria, Hypogonadism, Congestive hear...	ORPHA:66631
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hype...	ORPHA:73224
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Organic aciduria, Cardiomyopathy, Elevated circulating creatine kin...	OMIM:255100
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276580
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Abnormal circulating aldosterone, Increased circulating renin level, Hyponatre...	ORPHA:171876
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin...	OMIM:143200
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Decreased testicular...	OMIM:618086
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Cerebral atrophy, Decreased testicular size, Periphera...	OMIM:604168
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Excessive insulin response to ...	ORPHA:276556
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/h...	OMIM:601678
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Late-Onset Familial Hypoaldosteronism	Hypotension, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevate...	ORPHA:556037
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypertension, Renal salt wasting, Elevated circulating 21-deoxycortisol conc...	OMIM:201910
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Reduc...	OMIM:602522
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Elevated urinar...	OMIM:171400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Nephrolithi...	OMIM:615474
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Combined Oxidative Phosphorylation Defect Type 39	Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Decreased ne...	ORPHA:565624
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Hypertension, Glomerulopathy, Microscopic hematuria	ORPHA:2613
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria...	OMIM:145600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cerebral atrophy, Abnormality of retinal pigmentation, Retinal detachment, Abnormal...	OMIM:251270
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Azoospermia, Increased LDL cholesterol concentration, Type II diabetes ...	OMIM:615703
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:613944
Leukoencephalopathy With Dystonia And Motor Neuropathy	Leukoencephalopathy, Decreased motor nerve conduction velocity, Azoospermia, Elevated circulating...	OMIM:613724
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re...	OMIM:614436
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte...	OMIM:614492
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio...	OMIM:605373
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypertrophic cardiomyopathy, Adrenal insufficiency, Hyperglycinemia, Renal insuffi...	OMIM:619386
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Sens...	ORPHA:98856
Hyperinsulinism Due To Hnf1A Deficiency	Episodic hyperhidrosis, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin...	ORPHA:324575
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Cerebral atrophy, Retinal degeneration, Increased extraneuro...	OMIM:204200
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Adrenal...	ORPHA:85445
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf...	OMIM:300200
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Retinal degeneration, Microcephaly,...	OMIM:614322
Leydig Cell Hypoplasia	Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C...	ORPHA:755
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi...	OMIM:613237
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Early-Onset Familial Hypoaldosteronism	Hypotension, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevate...	ORPHA:556030
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension	OMIM:607832
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Subretinal deposits, Macular degeneration, Choriocapillaris atrophy	OMIM:601553
Familial Hypoaldosteronism	Hypotension, Adrenal insufficiency, Hyponatremia, Hypovolemia, Decreased urinary potassium, Decre...	ORPHA:427
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi...	OMIM:214700
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti...	OMIM:168000
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Hypercholesterolemia, Myocardial infarction, Diabetes mellitus	OMIM:608320
Young Syndrome	Azoospermia	OMIM:279000
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti...	ORPHA:358
Liddle Syndrome 1	Renal insufficiency, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost...	OMIM:177200
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Retinopathy, Axonal degenera...	ORPHA:478029
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration, Cryptorchidism	ORPHA:404451
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ...	OMIM:312300
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen...	OMIM:602433
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Mccune-Albright Syndrome	Precocious puberty, Bone marrow hypocellularity, Irregular menstruation, Increased circulating co...	ORPHA:562
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Cerebellar atrophy, Retinopathy, Axonal degeneration, Optic ...	OMIM:616811
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catec...	OMIM:115310
Weiss-Kruszka Syndrome	Decreased response to growth hormone stimulation test, Dysplastic corpus callosum, Cryptorchidism	ORPHA:502430
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Axonal degeneration, Abnormal...	ORPHA:88628
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyperkale...	OMIM:203400
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy, Reduced sperm m...	OMIM:602271
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hyperhidrosis...	ORPHA:276608
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Cardiomyopathy, Cryptorchidism, Retinal degeneration, Cone/cone-rod dystrophy, Arr...	OMIM:249270
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Gastroesophageal reflux, Retinal degeneration	OMIM:617173
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased...	OMIM:241200
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
8P23.1 Duplication Syndrome	Hydronephrosis, Adrenal insufficiency, Pulmonic stenosis	ORPHA:251076
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism...	ORPHA:89938
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Cerebral atrophy, Retinal degeneration, Increased neuronal a...	OMIM:256730
Cofs Syndrome	Hypogonadism, Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:1466
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am...	OMIM:614837
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Reduced left ventricular ejection fraction, Increased circulating brain natriuret...	OMIM:620734
Spinal Muscular Atrophy, X-Linked 2	Decreased compound muscle action potential amplitude, Cryptorchidism, Elevated circulating creati...	OMIM:301830
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Azoospermia, Agenesis of corpus callosum, Microcephaly, Ambiguous genit...	ORPHA:261519
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re...	OMIM:616188
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Increased total bilirubin, Abnormal urinary color	ORPHA:90037
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon...	OMIM:604484
Macular Dystrophy, Vitelliform, 3	Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula...	OMIM:608161
Mucolipidosis Iv	Optic atrophy, Cerebellar atrophy, Retinal degeneration, Hypergastrinemia, Dysplastic corpus call...	OMIM:252650
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo...	ORPHA:368
Snakebite Envenomation	Epistaxis, Acute kidney injury, Hypotension, Cardiogenic shock, Hypopituitarism, Cerebral ischemi...	ORPHA:449285
Hereditary Coproporphyria	Nephropathy, Dark urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concen...	ORPHA:79273
Ophthalmoplegia, External, And Myopia	Chorioretinal degeneration, Retinal degeneration	OMIM:311000
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618126
Partington Syndrome	Macroorchidism, Facial telangiectasia, EEG abnormality	ORPHA:94083
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab...	ORPHA:90064
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri...	OMIM:601493
Congenital Isolated Acth Deficiency	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circula...	ORPHA:199296
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Cone-Rod Dystrophy 13	Macular degeneration, Cone/cone-rod dystrophy	OMIM:608194
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye...	OMIM:302800
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia, Sudden ...	OMIM:610947
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Hyperthyroidism, Nonautoimmune	Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f...	OMIM:609152
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Spermatogenic Failure 14	Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M...	OMIM:615842
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Amyotrophy, Hereditary Neuralgic	Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Addison Disease	Adrenal calcification, Hypoparathyroidism, Premature ovarian insufficiency, Hyperkalemia, Thymoma...	ORPHA:85138
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Optic atrophy, Parietal cortical atrophy, Cryptorchidism, Agenesis of corpus callosum, Microcepha...	OMIM:618766
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Senior-Loken Syndrome	Premature ovarian insufficiency, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul...	ORPHA:280679
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials	ORPHA:141
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis	OMIM:614897
Autosomal Recessive Spastic Paraplegia Type 21	Hypoplasia of the corpus callosum, Abnormal cerebellum morphology, Abnormality of peripheral nerv...	ORPHA:101001
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype...	ORPHA:84090
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum	OMIM:613162
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration	OMIM:616155
Familial Glucocorticoid Deficiency	Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating...	ORPHA:361
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Chudley-Mccullough Syndrome	Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dysplastic corpus callos...	OMIM:604213
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Decreased testicular size, Cryptorchidism, Abnormality of retinal pigmentatio...	ORPHA:3085
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen	OMIM:608895
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:615490
Hemochromatosis, Type 1	Increased circulating iron concentration, Impotence, Cardiomyopathy, Increased circulating ferrit...	OMIM:235200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Axonal degeneration	OMIM:618138
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Retinopathy, Cerebel...	OMIM:616171
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Hypogonadism, Decreased fertility, Abnormality of retinal pigmentation, Hypogonado...	ORPHA:1173
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasia, Protei...	ORPHA:263455
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Hyperhi...	ORPHA:34217
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Hypoadrenocorticism, Familial	Hyponatremia, Adrenal insufficiency, Hyperkalemia, Adrenal hypoplasia	OMIM:240200
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Re...	OMIM:256731
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyperbilirubinemia,...	OMIM:609734
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Secondary microcephaly, Decreased nerve conduction velocity, Abnormal motor n...	OMIM:618404
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul...	OMIM:301077
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Spinal arachnoid cyst, Decreased serum insulin-like growth factor 1, Elevated circulating growth ...	ORPHA:85327
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Polycystic ovaries, Rod-cone dystro...	OMIM:268020
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
Narp Syndrome	Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Ro...	ORPHA:644
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg...	OMIM:604169
Reni Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogo...	OMIM:617575
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Hsd10 Mitochondrial Disease	Optic atrophy, Abnormal mitochondrial morphology, Cerebral cortical atrophy, Retinal degeneration	OMIM:300438
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic aciduria, Hyperammonemia, Eleva...	OMIM:212138
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Cerebellar atrophy, Hypoplasia of the pons, Parietal cortical atrophy, ...	ORPHA:412057
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Hypotension, Tachycardia, Renal tubular acidosis	ORPHA:79155
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration	OMIM:620011
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Ring Chromosome 21 Syndrome	Azoospermia, Decreased circulating antibody level, Amenorrhea, Microcephaly, EEG abnormality, Inf...	ORPHA:1445
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum...	OMIM:619737
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent...	OMIM:613424
Laurence-Moon Syndrome	Micropenis, Small scrotum, Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ...	ORPHA:432
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ...	ORPHA:66529
Spermatogenic Failure 13	Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M...	OMIM:615841
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac...	OMIM:612158
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Krabbe Disease	Optic atrophy, Neurodegeneration, Decreased nerve conduction velocity, Peripheral demyelination, ...	OMIM:245200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Microcephaly, Decreased motor nerve conduction velocity, Cryptorchidism	OMIM:615419
Tetanus	Elevated urinary norepinephrine level, Elevated circulating creatine kinase concentration, Bradyc...	ORPHA:3299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Type II lissencephaly, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus call...	OMIM:236670
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Liddle Syndrome	Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Hypertension	ORPHA:526
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Cone-Rod Dystrophy 15	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613660
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Hype...	OMIM:611489
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi...	ORPHA:90797
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Warburg Micro Syndrome 1	Optic atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, External genital hypoplasia, Crypt...	OMIM:600118
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Bardet-Biedl Syndrome 21	Retinal thinning, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy, Hypoplasia of the...	OMIM:617406
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg...	OMIM:614292
Warburg Micro Syndrome 4	Small scrotum, Optic atrophy, Cerebral cortical atrophy, Decreased motor nerve conduction velocit...	OMIM:615663
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hyperintensity of cerebral white matter on MRI, Hypogonadotropic hypogonadism, Abnormality of per...	ORPHA:48431
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Cer...	OMIM:208920
48,Xxyy Syndrome	Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H...	ORPHA:10
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Retinitis Pigmentosa	Optic atrophy, Hypogonadism, Hyperinsulinemia, Attenuation of retinal blood vessels, Type II diab...	ORPHA:791
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly, Cerebellar atrophy, Hypoplasia of the pons	OMIM:618276
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C...	ORPHA:370022
Timothy Syndrome	Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Hypothyroidism, Ventricula...	OMIM:601005
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Peripheral axonal degeneration, Degeneration of anterior hor...	OMIM:604320
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cerebral cortical atrophy, Abnormality of pattern visual evoked potentials, Cryptorchidism, Retin...	ORPHA:166035
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu...	ORPHA:320
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Focal EEG discharges with secondary generalization, Congestive heart failure	ORPHA:3077
Aapoaiv Amyloidosis	Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card...	ORPHA:439232
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
17Q11.2 Microduplication Syndrome	Microcephaly, Macroorchidism	ORPHA:139474
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Diffuse white matter abnormalities, Hypoplasia of the pons, Cardiomyopathy, Hypopl...	ORPHA:370959
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Cerebellar atrophy, Lateral ventricle dilatation, Hypoplasia...	ORPHA:300573
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:218030
Spinocerebellar Ataxia Type 1	Loss of Purkinje cells in the cerebellar vermis, Abnormal nerve conduction velocity, Optic atroph...	ORPHA:98755
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cervical myelopathy, Leukoencephalopathy, Abnormal auditory evoked potentials, Cerebellar atrophy...	OMIM:619260
Spastic Paraplegia 11, Autosomal Recessive	Cerebral cortical atrophy, Macular degeneration, Abnormal periventricular white matter morphology...	OMIM:604360
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri...	OMIM:613873
Relapsing Fever	Epistaxis, Acute kidney injury, Abnormality of the urinary system, Hypotension, Increased total b...	ORPHA:91547
Stxbp1-Related Encephalopathy	EEG with abnormally slow frequencies, Dysplastic corpus callosum, Cerebral white matter atrophy, ...	ORPHA:599373
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Congenital Muscular Dystrophy With Intellectual Disability	Cerebral cortical atrophy, Pigmentary retinopathy, Cryptorchidism, Micropenis, Facial palsy	ORPHA:370968
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio...	OMIM:256600
Diaminopentanuria	Neurodegeneration	OMIM:222350
Bardet-Biedl Syndrome 3	External genital hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration	OMIM:618811
Bardet-Biedl Syndrome 17	Hypogonadism, Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret...	OMIM:615994
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Polym...	ORPHA:171680
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Adrenomyeloneuropathy	Male sexual dysfunction, Lip hyperpigmentation, Female sexual dysfunction, Axonal degeneration, P...	ORPHA:139399
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Increased total bilirubin, Abnormal urinary color	ORPHA:90036
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Porphyria Variegata	Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent...	ORPHA:79473
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Oguchi Disease	Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness	ORPHA:75382
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Hypotension, Elevated circulating creatinine concentration, Reduced left ven...	ORPHA:542323
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Neurodegeneration, Cerebellar atrophy, Retinal telangiectasia	ORPHA:438134
Myotonic Dystrophy 2	Hypogonadism, Palpitations, Type II diabetes mellitus, Elevated circulating creatine kinase conce...	OMIM:602668
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem	OMIM:619862
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen	OMIM:204000
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal brainstem ...	ORPHA:255182
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Hypergonadotropic hypogonadism	OMIM:614307
Acute Adrenal Insufficiency	Hypotension, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficie...	ORPHA:95409
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,...	OMIM:610489
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ...	ORPHA:263297
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Ketonuria, Torsade de pointes, Hypertrophic car...	OMIM:616878
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Neuroleptic Malignant Syndrome	Hypertensive crisis, Acute kidney injury, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hyp...	ORPHA:94093
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Basal ganglia calcification, Hypocalcemia, Hypokalemia, Decrea...	OMIM:601198
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Retinal thinning, Cerebellar dysplasia, Dilated fourth ventricle, A...	OMIM:615960
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebe...	OMIM:613153
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ...	OMIM:616040
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Interictal EEG abnormality, Focal T...	ORPHA:79264
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy	ORPHA:1897
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Micropenis, Tachycardia, Hypertension	OMIM:613870
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro...	OMIM:300845
Polyembryoma	Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio...	ORPHA:180229
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Microcephaly, Male hypogonadism, Macroorchidism, EEG with generalized slow activity	OMIM:300055
Leber Congenital Amaurosis 4	Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy	OMIM:604393
De Sanctis-Cacchione Syndrome	Optic atrophy, Global brain atrophy, Hypermelanotic macule, Bilateral cryptorchidism, Cerebral at...	OMIM:278800
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh...	ORPHA:139411
Porphyria, Acute Intermittent	Urinary retention, Hypertension, Urinary incontinence, Elevated urinary delta-aminolevulinic acid...	OMIM:176000
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
48,Xyyy Syndrome	Male hypogonadism, Primary gonadal insufficiency, Azoospermia	ORPHA:99329
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating cr...	OMIM:611705
Lower Motor Neuron Syndrome With Late-Adult Onset	Abnormal sensory nerve conduction velocity, Elevated circulating creatine kinase concentration	ORPHA:276435
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation...	OMIM:616201
Glucocorticoid Deficiency 3	Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l...	OMIM:609197
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Hypospadias, Cryptorchidism, Hypertrophic cardiomyopathy	OMIM:620135
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v...	OMIM:608751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst...	OMIM:613155
Mercury Poisoning	Acute kidney injury, Hypotension, Hypokalemia, Tachycardia, Hypertension	ORPHA:330021
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Hypogonadism, Decreased nerve conducti...	OMIM:610651
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Decreased compound muscle action potential amplitude	OMIM:619112
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Type II lissencephaly, Elevated circulating creatine kinase concentr...	OMIM:615249
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, External genital hypoplasia, Rod-cone dystrophy, Vaginal atresia, Hypospa...	OMIM:605231
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and...	OMIM:615962
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Bilateral cryptorchidism, Decreased response to growth...	ORPHA:96179
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Abnormal cerebral cortex morphology, Simplified gyral pattern, Abnormal brainstem ...	ORPHA:411493
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Autoimmune Polyendocrinopathy Type 2	Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary...	ORPHA:3143
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Alg6-Cdg	Hypoalbuminemia, Puberty and gonadal disorders, Retinal degeneration, Cerebellar hypoplasia, Decr...	ORPHA:79320
Denys-Drash Syndrome	Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension	ORPHA:220
Lujan-Fryns Syndrome	Macroorchidism, Aplasia/Hypoplasia of the corpus callosum	ORPHA:776
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Primary adrenal insufficiency, Renal tubular...	OMIM:530000
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop...	ORPHA:816
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Glutaric Aciduria Iii	Glutaric aciduria, Hypertension, Hyperthyroidism, Goiter	OMIM:231690
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Gitelman Syndrome	Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Palpitations, Hypo...	OMIM:263800
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti...	ORPHA:500166
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy	OMIM:615147
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Cardiomyopathy, Familial Hypertrophic, 7	Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki...	OMIM:613690
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno...	ORPHA:206594
Septopreoptic Holoprosencephaly	Precocious puberty, Abnormal midbrain morphology, Abnormal corpus callosum morphology, Hypoplasia...	ORPHA:280195
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level...	ORPHA:90795
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Neurodegeneration, Optic atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem	OMIM:612319
Cach Syndrome	Optic atrophy, Cerebellar atrophy, Secondary amenorrhea, Lateral ventricle dilatation, Gonadal dy...	ORPHA:135
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c...	OMIM:617872
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Hyperkalemia	OMIM:141000
Kennedy Disease	Abnormal circulating lipid concentration, Decreased fertility, Type II diabetes mellitus, Testicu...	ORPHA:481
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hype...	ORPHA:26793
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola...	ORPHA:97289
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure, Abnormal urinary color	ORPHA:90033
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Joubert Syndrome 6	Cerebellar vermis hypoplasia, Chorioretinal coloboma, Hypoplasia of the brainstem, Dilated fourth...	OMIM:610688
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebral cortical atrophy, Pigmentary retinopathy, Cryptorchidism, Micropenis, Facial palsy	OMIM:613156
Fragile X Syndrome	Cerebral cortical atrophy, Macroorchidism, Gastroesophageal reflux	ORPHA:908
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle...	ORPHA:79644
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity	ORPHA:98890
Distal Hereditary Motor Neuropathy Type 5	Abnormal motor nerve conduction velocity	ORPHA:139536
Congenital Myopathy 10A, Severe Variant	Elevated circulating creatine kinase concentration, Abnormal motor nerve conduction velocity, Fac...	OMIM:614399
Micro Syndrome	Optic atrophy, Cerebral cortical atrophy, Retinal coloboma, Cryptorchidism, Abnormality of retina...	ORPHA:2510
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1390
Null Syndrome	Optic atrophy, Abnormal cerebellum morphology, Abnormality of peripheral nerve conduction, Decrea...	ORPHA:280234
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Abnormal motor nerve conduction velocity	OMIM:158580
Bardet-Biedl Syndrome 9	Irregular menstruation, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule ...	OMIM:615986
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Increased serum sorbitol concentration, Decreased motor nerve conduction velocity, Decreased ampl...	OMIM:618912
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Abnormal circulating protein concentration, Elevated circulating carcinoembryonic an...	ORPHA:264675
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Cerebral atrophy, Secondary microcephaly, Cerebral calcification, Hypoplasia of th...	OMIM:616211
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration	OMIM:616687
49,Xxxxy Syndrome	Small scrotum, Pulmonary embolism, Hypogonadism, Decreased testicular size, Azoospermia, Type II ...	ORPHA:96264
Senior-Loken Syndrome 9	Hypogonadism, Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Acute Intermittent Porphyria	Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem...	ORPHA:79276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy	ORPHA:1188
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Microcephaly, Hypoplasi...	ORPHA:251066
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity	ORPHA:101075
Danon Disease	Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q...	OMIM:300257
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I...	OMIM:201810
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Retinal atr...	OMIM:610127
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71526
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Leber Hereditary Optic Neuropathy	Arrhythmia, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hyperammonemia, Ventricular tachycardia, Elevated circulating creatine ki...	OMIM:600649
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Supraventricular tachycardia, High-output congestive hear...	ORPHA:423
Leukoencephalopathy, Progressive, With Ovarian Failure	Neurodegeneration, Premature ovarian insufficiency, Cerebellar atrophy	OMIM:615889
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph...	ORPHA:340
Xp22.13P22.2 Duplication Syndrome	Microcephaly, Macroorchidism, Polycystic ovaries	ORPHA:284180
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Oliguria, Decreased circulating ca...	ORPHA:159
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
X-Linked Adrenoleukodystrophy	Urinary bladder sphincter dysfunction, Abnormality of adrenal physiology, Adrenal insufficiency, ...	ORPHA:43
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo...	ORPHA:250972
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velo...	OMIM:609260
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Cholera	Hypovolemic shock, Acute kidney injury, Hypotension, Abnormal blood ion concentration, Hypocalcem...	ORPHA:173
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Smith-Magenis Syndrome	Abnormal nerve conduction velocity, Abnormality of the thyroid gland, Hypercholesterolemia, Retin...	OMIM:182290
Aceruloplasminemia	Decreased circulating iron concentration, Macular degeneration, Abnormal pancreas morphology, Inc...	ORPHA:48818
Monomelic Amyotrophy	Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells	ORPHA:65684
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ...	ORPHA:90068
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor...	OMIM:620317
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus, Hyperhidrosis	OMIM:184850
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy	ORPHA:99014
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Hypotension, Methylmalonic ac...	OMIM:277400
48,Xxxy Syndrome	Small scrotum, Pulmonary embolism, Hypogonadism, Decreased testicular size, Azoospermia, Type II ...	ORPHA:96263
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the ...	OMIM:271245
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, H...	ORPHA:36913
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Oculocerebrorenal Syndrome Of Lowe	Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Renal insufficiency,...	ORPHA:534
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Palpitations, Syncope	ORPHA:464453
Familial Dysautonomia	Renal insufficiency, Hyponatremia, Glomerulopathy, Hypohidrosis, Hyperhidrosis, Abnormality of th...	ORPHA:1764
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Decreased testicular size, Hypogonadism, Hyperautofluorescent macular l...	OMIM:209900
Chronic Inflammatory Demyelinating Polyneuropathy	Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity	ORPHA:2932
Walker-Warburg Syndrome	Lissencephaly, Optic atrophy, Abnormal cortical gyration, Retinal dysplasia, Abnormal optic nerve...	ORPHA:899
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Abnormality of visual evoked potentials	ORPHA:96
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Abnormal amplitude of flash visual evoked potentials, EEG w...	ORPHA:168491
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Leukoencephalopathy, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, ...	OMIM:615181
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration	ORPHA:352675
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased amplitude of sensory action potentials	OMIM:608673
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Leprechaunism	Nephrocalcinosis, Long penis, Central hypothyroidism, Hyperaldosteronism, Hypertrophic cardiomyop...	ORPHA:508
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy...	ORPHA:31826
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, Cerebral atrophy, Hypogonadism, Facial diplegia, First degree atr...	OMIM:160900
Spastic Paraplegia 79B, Autosomal Recessive	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Opto-chiasmatic atrophy, Neurodegeneration, ...	OMIM:615491
Scorpion Envenomation	Acute kidney injury, Cardiogenic shock, Ketonuria, Glycosuria, Prominent U wave, Congestive heart...	ORPHA:466677
Sjogren-Larsson Syndrome	Macular degeneration, Retinal thinning, Macular dots, Retinal pigment epithelial atrophy, Macular...	OMIM:270200
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased nerve conduction velocity, Decreased distal sensory nerve action potential, Decreased m...	OMIM:601098
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Bradycardia, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hy...	OMIM:616299
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an...	OMIM:202010
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Mildly elevated creatine kinase	OMIM:615376
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Decreased nerve conduction velocity, Abnormal motor evoked potentials, Extremely elevated creatin...	ORPHA:99939
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi...	ORPHA:897
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal...	ORPHA:100996
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Cerebral atrophy, Hypothyroidism, Testicul...	OMIM:222300
Sheehan Syndrome	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:91355
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cerebellar cyst, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Abnormalit...	ORPHA:90103
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Syncope, Orthostatic hypotension, Tachycardia, Mic...	ORPHA:71273
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape, Optic atrophy, Cerebellar atrophy, Secondary microcephaly, Decrease...	ORPHA:485421
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Abnormal QRS complex, Heart murmur, Cardiac shunt, Abnormality of blood...	ORPHA:860
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita...	OMIM:614736
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re...	ORPHA:90363
Cockayne Syndrome Type 1	Optic atrophy, Male hypogonadism, Pigmentary retinopathy, Basal ganglia calcification, Cryptorchi...	ORPHA:90321
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Decreased motor nerve conduction velocity, Decreased nerve co...	OMIM:218000
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity	OMIM:605726
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c...	ORPHA:95716
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol	OMIM:229700
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Hypertrophic cardiomyopathy, Ab...	ORPHA:391428
Serotonin Syndrome	Hypotension, Acute kidney injury, Hyperhidrosis, Tachycardia, Hypertension	ORPHA:43116
Frasier Syndrome	Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,...	ORPHA:347
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy...	OMIM:123550
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Arrhythmia, Premature ovarian insufficiency	ORPHA:2928
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Cerebrotendinous Xanthomatosis	Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Global brain atrophy, Abn...	ORPHA:909
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Hypocholesterolemia, Dysplastic corpus callosum, Cerebellar hypoplas...	OMIM:618810
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Charcot-Marie-Tooth Disease, Type 4J	Decreased nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:611228
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:608323
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Retinal degeneration, Seve...	OMIM:620646
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad...	ORPHA:300298
Ravine Syndrome	Abnormal basal ganglia morphology, Abnormal brainstem morphology, Abnormal auditory evoked potent...	ORPHA:99852
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous	OMIM:193230
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Decreased nerve conduction velocity	ORPHA:868
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,...	OMIM:601214
Achalasia-Addisonianism-Alacrima Syndrome	Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le...	OMIM:231550
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Heart murmur, Hypocalcemia, Hypoparathyroidism, Tachycardia, Pu...	ORPHA:3426
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia, Cryptorchidism	OMIM:250951
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal corpus callosum morphology, Optic atrophy, Cerebral atrophy, Retinal degeneration, Micro...	ORPHA:442835
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hypertension...	OMIM:615830
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Vestibular schwannoma	OMIM:613641
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Peripheral demyelination, Attenuation of retinal blood ves...	OMIM:609033
Mitochondrial Complex I Deficiency, Nuclear Type 16	Adrenal insufficiency	OMIM:618238
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia, Elevated ...	OMIM:613205
Cockayne Syndrome A	Irregular menstruation, Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potential...	OMIM:216400
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Peripheral de...	OMIM:617672
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Cardiomyopathy	OMIM:610100
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Increased c...	ORPHA:97287
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity	OMIM:620111
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Abnormal circulating creatine kinase concentration, Decreased motor nerve conduction velocity	OMIM:620068
Nelson Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca...	ORPHA:199244
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d...	OMIM:616468
Ataxia-Pancytopenia Syndrome	Abnormal cerebral white matter morphology, Decreased nerve conduction velocity, Cerebellar atrophy	OMIM:159550
Ring Chromosome 22 Syndrome	Microcephaly, Azoospermia, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:1446
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Cerebellar atrophy, Hypogonadism, Basal ganglia calcification, Abnormal periventri...	ORPHA:98673
Retinitis Pigmentosa 14	Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation...	OMIM:600132
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity	OMIM:605253
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Azoospermia, Elevated hepatic iron co...	OMIM:615234
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis, Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adr...	OMIM:240300
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated...	ORPHA:57777
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Decreased amplitude of sensory action potentials, Congestive heart f...	ORPHA:85446
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Cerebral cortical atrophy, Hypopigmentation of the fundus, Decreased nerve conduction velocity, H...	OMIM:238970
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Gómez-López-Hernández Syndrome	Abnormal brainstem morphology, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia	ORPHA:1532
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me...	ORPHA:67042
Joubert Syndrome 15	Retinopathy, Ambiguous genitalia, Molar tooth sign on MRI, Micropenis, Retinal dystrophy	OMIM:614464
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Beta-Thalassemia Intermedia	Proximal tubulopathy, Hypogonadism, Adrenal insufficiency, High-output congestive heart failure, ...	ORPHA:231222
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity	OMIM:605589
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity	OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity	OMIM:607706
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Cryptorchidism, Rod-...	OMIM:300578
Bloom Syndrome	Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Azoospe...	OMIM:210900
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v...	OMIM:607684
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Mitochondrial Neurogastrointestinal Encephalomyopathy	Leukoencephalopathy, Decreased motor nerve conduction velocity, Hypogonadotropic hypogonadism, Hy...	ORPHA:298
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Elevated circulating creatine kinase concen...	OMIM:614921
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Polymicrogyria, Abnormal brainstem morphology, Cerebellar cyst, EEG...	ORPHA:370997
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Trichothiodystrophy	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Macular degeneration, Cardiomyopathy, Gona...	ORPHA:33364
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy,...	OMIM:607250
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Small basal ganglia, Abnormal basal ganglia morphology, Abnormal brainstem MRI signal intensity	ORPHA:263410
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Abs...	OMIM:300424
Choroidal Atrophy-Alopecia Syndrome	Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation	ORPHA:1433
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci...	ORPHA:90790
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:2518
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity	OMIM:607678
Kapur-Toriello Syndrome	Polymicrogyria, Retinal coloboma, Dysplastic corpus callosum, Hypoplastic labia majora, Pachygyri...	ORPHA:2328
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity	OMIM:615575
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypoplasia of the brainstem, Polymicrogyria, Cerebellar dysplasia, Abnormal periventricular white...	ORPHA:500159
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration	ORPHA:101082
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Chorioretinal coloboma, Cryptorchidism, Agenesis of corpus...	ORPHA:139471
Retinal Cone Dystrophy 3B	Macular atrophy, Cone/cone-rod dystrophy	OMIM:610356
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Bowel incontinence, Retinal degeneration	OMIM:270700
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Facial palsy, Decreased motor nerve conduction velocity	OMIM:118210
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Prolo...	OMIM:613327
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration	ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity	OMIM:613287
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Slc35A2-Cdg	Precocious puberty, Abnormal midbrain morphology, Cerebellar atrophy, Elevated circulating thyroi...	ORPHA:356961
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydroepiandrostero...	ORPHA:90794
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity	OMIM:606595
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity	OMIM:600361
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Abnormal seventh cranial physiology, Elevated cir...	ORPHA:90117
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity	ORPHA:101078
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude	OMIM:619519
Werner Syndrome	Hypogonadism, Retinal degeneration, Hypertriglyceridemia, Elevated hemoglobin A1c, Diabetes mellitus	OMIM:277700
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:330001
Parkinsonism With Polyneuropathy	Diffuse cerebral atrophy, Decreased compound muscle action potential amplitude, Decreased motor n...	OMIM:619279
Combined Oxidative Phosphorylation Defect Type 13	Abnormal corpus callosum morphology, Decreased nerve conduction velocity, Abnormal basal ganglia ...	ORPHA:319514
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Cardiac arrest, Diabetes mellitus, Congestive heart failure	ORPHA:49827
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity	ORPHA:1368
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Cerebellar atrophy	OMIM:612674
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Hypertrophic cardiomyopathy, Abnormal brainstem morphology, Telangiectasia, Aplasi...	ORPHA:79279
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Retinal degeneration	OMIM:616896
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia	OMIM:618184
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hypoplasia of the brainstem, Hypoplasia...	ORPHA:2524
Crimean-Congo Hemorrhagic Fever	Hematuria, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Adrenal insufficiency, ...	ORPHA:99827
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Motor conduction block	ORPHA:99948
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Increa...	ORPHA:90674
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydromyelia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Decreased testicular siz...	OMIM:615287
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m...	ORPHA:5
Infantile Neuroaxonal Dystrophy	Optic atrophy, Cerebellar atrophy, Eye of the tiger anomaly of globus pallidus, Abnormality of pe...	ORPHA:35069
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Facial telangiectasia, Abnormal cardiovascu...	ORPHA:168569
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr...	ORPHA:90673
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Decreased distal sensory nerve action potential, Mildly elevated creatine kinase	OMIM:618400
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Senile plaques, Neurofibrillary tangles	DECIPHER:48
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Micr...	OMIM:614833
Congenital Fibrinogen Deficiency	Micropenis, Tachycardia, Internal hemorrhage	ORPHA:335
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Dietary Iron Overload Disease	Abnormal thyroid morphology, Increased circulating cortisol level, Increased circulating ferritin...	ORPHA:139507
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Gaisböck Syndrome	Elevated diastolic blood pressure, Hyperuricemia, Hypertension, Hypovolemia, Angina pectoris, Hyp...	ORPHA:90041
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Microcephaly	OMIM:615284
Joubert Syndrome 2	Abnormal corpus callosum morphology, Dysgenesis of the cerebellar vermis, Optic disc coloboma, Ch...	OMIM:608091
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Cryptorchidism, Dysplastic corpus callosum, Microcephal...	OMIM:619103
Trisomy 20P	Cryptorchidism, Spina bifida, Abnormal autonomic nervous system physiology, Macroorchidism, Hypos...	ORPHA:261318
Neurodegeneration With Brain Iron Accumulation 6	Neurodegeneration, Motor axonal neuropathy	OMIM:615643
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Agenesis of corpus callosum	OMIM:309520
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity	OMIM:609311
Mirizzi Syndrome	Hyperbilirubinemia, Tachycardia, Dark urine, Pancreatitis	ORPHA:521219
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Abnormal cerebral cortex morphology, Undetectable visual evoked pot...	ORPHA:163961
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Adrenomyodystrophy	Abnormality of the urinary system, Primary adrenal insufficiency, Megacystis	ORPHA:977
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Arrhythmia	ORPHA:99944
Cockayne Syndrome	Absence of pubertal development, Basal ganglia calcification, Cerebral calcification, Cryptorchid...	ORPHA:191
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Autosomal Dominant Spastic Paraplegia Type 17	Abnormal motor nerve conduction velocity	ORPHA:100998
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Decreased serum testosterone concen...	ORPHA:465508
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity	OMIM:614932
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Abnormal periventricular white matter morphology	OMIM:249900
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Hypoplasia of the pons, Absent scrotum, Retinal degeneration, Cerebellar hypoplasia, Microcephaly...	OMIM:618479
Vici Syndrome	Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Abnormal macular morpholo...	ORPHA:1493
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Decreased fertility, Hypogonadotropic hypogonadism, Hypoplasia of the ova...	ORPHA:2235
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the ...	ORPHA:3157
Mirage Syndrome	Microphallus, Recurrent urinary tract infections, Adrenal insufficiency, Hyponatremia, Adrenal hy...	OMIM:617053
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology, Fo...	ORPHA:2822
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Tachycardia	ORPHA:348
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity	OMIM:183050
Optic Atrophy 11	Leukoencephalopathy, Optic atrophy, Cherry red spot of the macula, EEG with focal sharp waves, Fa...	OMIM:617302
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity, Cerebellar atrophy, Microcephaly	OMIM:618356
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Alzheimer Disease 9, Susceptibility To	Cerebral cortical atrophy, Senile plaques, Neurofibrillary tangles, Hippocampal atrophy	OMIM:608907
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hypotension, Recurrent urinary tract infections, Shock, Elevated circulating cre...	ORPHA:36234
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity	ORPHA:101077
Cerebral Visual Impairment	Optic atrophy, Central nervous system degeneration, Neurodegeneration, Retinopathy of prematurity...	ORPHA:447788
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude	OMIM:600882
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr...	OMIM:615745
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Reduced sperm motility, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Polycy...	OMIM:618061
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Tachycardia	ORPHA:485405
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Charcot-Marie-Tooth Disease Type 1A	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	ORPHA:101081
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Triple A Syndrome	Adrenal insufficiency, Anterior hypopituitarism	ORPHA:869
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Microcephaly, Macroorchidism, Hypospadias, Polymicrogyria	OMIM:618874
Gangliocytoma	Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Abn...	ORPHA:251937
Bloom Syndrome	Decreased circulating IgG level, Azoospermia, Decreased circulating IgA level, Retinopathy, Telan...	ORPHA:125
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Retinal pigment epithelial mottling, Decreased ...	OMIM:618733
Neuronal Intranuclear Inclusion Disease	Leukoencephalopathy, Decreased sensory nerve conduction velocity, Syncope, Decreased motor nerve ...	OMIM:603472
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete...	OMIM:618620
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebral atrophy, Dec...	OMIM:133540
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Retin...	OMIM:266500
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Hypopituitarism, Adrenal insufficiency, High-output congestive heart fail...	ORPHA:231226
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis	OMIM:619132
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar atrophy, Interictal EEG abnormality, Abnormal brainstem morphology, Cryptorchidism, Ce...	OMIM:301310
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology	OMIM:300858
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cerebral calcification, Elevated circulating creatine kinase...	ORPHA:1933
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H...	OMIM:174000
Deafness-Hypogonadism Syndrome	Heterochromia iridis, Congenital stationary night blindness, Hypergonadotropic hypogonadism, Abno...	ORPHA:90646
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy	OMIM:256000
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypotension, Pituitary adenoma, Graves disease, Adrenocorticotropin def...	ORPHA:199299
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Secondary microcephaly, Hyperechogenic pancreas, Hypot...	ORPHA:456312
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer...	OMIM:606353
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Spinocerebellar Ataxia 1	Optic atrophy, Decreased motor nerve conduction velocity, Spinocerebellar tract degeneration, Dec...	OMIM:164400
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology	OMIM:605808
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Heparan sulfate excretion...	ORPHA:505248
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Decreased nerve conduction velocity, EEG with burst suppression, Elevated ci...	OMIM:615368
Keratoderma Hereditarium Mutilans	Hypogonadotropic hypogonadism, Abnormal spinal cord morphology	ORPHA:494
Gm2 Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy, Cherry red spot of the macula	ORPHA:309246
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
X-Linked Lissencephaly With Abnormal Genitalia	Cryptorchidism, Agenesis of corpus callosum, Aganglionic megacolon, Microcephaly, Ambiguous genit...	ORPHA:452
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Senile plaques, Neurofibrillary tangles	OMIM:605055
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Decreased serum insulin-like growth factor 1, Del...	ORPHA:79239
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Porta...	OMIM:609136
Myasthenia Gravis	Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Raynaud phenom...	ORPHA:589
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Cardiomyopathy	ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 24	Neurodegeneration, Optic atrophy, Cerebellar atrophy, Neuronal loss in central nervous system	OMIM:616239
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Peroxisome Biogenesis Disorder 2B	Elevated circulating long chain fatty acid concentration, Adrenal insufficiency	OMIM:202370
Lennox-Gastaut Syndrome	Abnormal brainstem morphology, EEG abnormality, EEG with focal sharp slow waves	ORPHA:2382
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Graves disease, Urinary retention, Second degree atrioventricular block, Hy...	ORPHA:79102
Immunodeficiency 54	Adrenocorticotropic hormone excess, Adrenal insufficiency	OMIM:609981
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration	ORPHA:1573
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Wolman Disease	Adrenal calcification, Adrenal insufficiency, Steatorrhea	ORPHA:75233
Tularemia	Tachycardia	ORPHA:3392
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Cerebellar dysp...	ORPHA:457240
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude	OMIM:618323
Cholesteryl Ester Storage Disease	Adrenal calcification, Increased LDL cholesterol concentration, Adrenal insufficiency, Portal hyp...	OMIM:278000
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Agenesis of corpus callosum, Dysplastic corpus callosum, Elevated circulat...	OMIM:619955
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty	OMIM:612079
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tach...	OMIM:300952
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, EEG abnormality, Testicular atrophy, Cerebral ed...	ORPHA:3063
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Sialidosis Type 1	EEG abnormality, Decreased nerve conduction velocity, Retinopathy, Cherry red spot of the macula	ORPHA:812
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Gastrointestinal hemorrhage, Pituitary adenoma, Increased c...	ORPHA:913
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity	OMIM:302802
Aceruloplasminemia	Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl...	OMIM:604290
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Bilatera...	ORPHA:66634
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Cherry red spot of the...	ORPHA:206436
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Simplified gyral pattern, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:617914
Neuropathy, Hereditary, With Liability To Pressure Palsies	Froment sign, Decreased motor nerve conduction velocity	OMIM:162500
Sepsis In Premature Infants	Hypotension, Oliguria, Reversible renal failure, Bradycardia, Elevated circulating C-reactive pro...	ORPHA:90051
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Hypoplasia of the corpus callosum, Microcephaly, Abnor...	OMIM:619026
Cancer-Associated Retinopathy	Diffuse cerebellar atrophy, Optic atrophy, Thymoma, Uterine neoplasm, Foveal hyporeflective space...	ORPHA:71505
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity	OMIM:605285
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity	ORPHA:2926
Tubulinopathy-Associated Dysgyria	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Abnormality of the internal ca...	ORPHA:467166
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Bone Marrow Failure Syndrome 5	Testicular atrophy, Microcephaly, Decreased circulating antibody level, Hypogonadism	OMIM:618165
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dysplastic corpus callosum, Microcepha...	OMIM:620001
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Abnormal autonomic ne...	ORPHA:139578
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,...	OMIM:174800
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity	OMIM:605588
Beta-Thalassemia Major	Dilated cardiomyopathy, Hypopituitarism, Adrenal insufficiency, High-output congestive heart fail...	ORPHA:231214
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick si...	ORPHA:542306
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Abnormal midbrain morphology, Abnorma...	ORPHA:206448
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity	OMIM:608236
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Say-Barber-Miller Syndrome	Optic atrophy, Decreased circulating IgG level, Macular degeneration, Hypogonadism, Cryptorchidis...	ORPHA:3132
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Retinal degeneration	OMIM:615630
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Cerebral atrophy, Microcephaly, Hypothyroidism, Thin c...	OMIM:619851
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Neurodegeneration, Cryptorchidism, Diffuse cerebral atrophy, Brain atrophy	OMIM:214150
Mannosidosis, Alpha B, Lysosomal	Cerebral cortical atrophy, Spinocerebellar tract disease in lower limbs, Cerebellar atrophy, Reti...	OMIM:248500
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Lateral ventricle dilatation, Bilateral cryptorchidism, Periventricular cysts, Dysplastic corpus ...	ORPHA:544488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Cerebell...	OMIM:253280
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hyperhidrosis, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension	OMIM:614653
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Macular degeneration	OMIM:617236
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Adrenoleukodystrophy	Urinary bladder sphincter dysfunction, Hypogonadism, Primary adrenal insufficiency, Urinary incon...	OMIM:300100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Cerebral atrophy, Small basal ganglia, Abnormal periventricular whi...	OMIM:616900
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Abnormal upper motor neuron morphology, Decreased nerve conduction...	OMIM:606070
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig...	ORPHA:2715
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Usher Syndrome	Cerebral cortical atrophy, Decreased fertility, Abnormality of retinal pigmentation	ORPHA:886
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Leukoencephalopathy, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, ...	ORPHA:79282
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Type I diabetes mellitus, Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral...	OMIM:616192
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Japanese Encephalitis	Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Abnormality of the inter...	ORPHA:79139
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Imerslund-Gräsbeck Syndrome	Proteinuria, Tachycardia	ORPHA:35858
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Abnormal brainstem morpho...	ORPHA:464311
Scheie Syndrome	Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Cervical cord compression, Retinal ...	OMIM:607016
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Mildly elevated creatine kinase, Mitochondrial swelling	ORPHA:397744
Congenital Bile Acid Synthesis Defect Type 4	Hypogonadism, Pigmentary retinopathy	ORPHA:79095
Xp21 Deletion Syndrome	Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen...	ORPHA:261476
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity	ORPHA:3115
Pearson Syndrome	Glycosuria, Cardiomyopathy, Hypomagnesemia, Decreased response to growth hormone stimulation test...	ORPHA:699
Spastic Ataxia, Charlevoix-Saguenay Type	Loss of Purkinje cells in the cerebellar vermis, Decreased motor nerve conduction velocity, Cereb...	OMIM:270550
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cerebellar atrophy, Dysphagia	OMIM:619780
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Eye of the tiger anomaly of globus pallidus, Bull's eye ma...	ORPHA:157850
Fanconi Anemia	Abnormality of the uterus, Hypogonadism, Hypertrophic cardiomyopathy, Azoospermia, Cryptorchidism...	ORPHA:84
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
D-Bifunctional Protein Deficiency	Cerebral hypoplasia, Cerebellar atrophy, Polymicrogyria, Decreased nerve conduction velocity, Pri...	OMIM:261515
Acute Disseminated Encephalomyelitis	Diffuse white matter abnormalities, Myelitis, Interictal EEG abnormality, EEG with focal slow act...	ORPHA:83597
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Chiari malformation, Uterus didelphys, Gonadal dysgenesis, Secondary microc...	OMIM:618820
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration	OMIM:610217
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Punctate periventricular T2 hyperintense foci, Decreased nerve conduction velocity...	ORPHA:309271
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Abnormal motor nerve conduction velocity, Periventricular leukomalacia, Abnor...	ORPHA:466768
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Prolactinoma	Secondary growth hormone deficiency, Male hypogonadism, Hypotension, Adrenocorticotropin deficien...	ORPHA:2965
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Decreased compound muscle action potential amplitude, Elevated circulating creatine...	OMIM:603511
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Facial palsy, Decreased motor nerve conduction velocity, Cerebral atrophy	OMIM:608804
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Bone marrow hypocellularity, Cerebral calcification	OMIM:613987
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ...	ORPHA:99826
Lysosomal Acid Lipase Deficiency	Hypotension, Hypernatriuria, Abnormal urine potassium concentration, Adrenal calcification, Xanth...	ORPHA:275761
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Atypical Werner Syndrome	Aortic valve stenosis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes me...	ORPHA:79474
Werner Syndrome	Premature graying of hair, Hypogonadism, Decreased fertility, White forelock, Abnormality of reti...	ORPHA:902
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:268315
Multiple Sulfatase Deficiency	Abnormal periventricular white matter morphology, Cerebellar atrophy, Cerebral atrophy, Retinal d...	OMIM:272200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity	OMIM:607734
Neurodegeneration With Brain Iron Accumulation 5	Neurodegeneration, Abnormal autonomic nervous system physiology, Cerebral atrophy, Cerebellar atr...	OMIM:300894
Flynn-Aird Syndrome	Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland	ORPHA:2047
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Abnormal spinal cord morphology	ORPHA:99947
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy	OMIM:620422
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Endometriosis, Dysplastic corpus callosum, Micropenis, Premature ovarian insufficiency, Hypospadi...	ORPHA:363444
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity	OMIM:180800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy	ORPHA:168549
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Ane Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula...	ORPHA:157954
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cerebellar atrophy	ORPHA:284289
Autosomal Recessive Cutis Laxa Type 2A	Cerebellar vermis hypoplasia, Secondary microcephaly, Cerebellar malformation, Dilated fourth ven...	ORPHA:357058
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Joubert Syndrome 7	Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Brainstem dysplasia, Molar toot...	OMIM:611560
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:99950
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation	ORPHA:585
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Hypogonadism, Elevated circ...	ORPHA:85450
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth ho...	ORPHA:293978
Pseudoxanthoma Elasticum	Choroidal neovascularization, Macular degeneration, Restrictive cardiomyopathy, Gastrointestinal ...	OMIM:264800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11	Decreased compound muscle action potential amplitude, Elevated circulating creatine kinase concen...	OMIM:620528
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity, Motor...	ORPHA:99953
Alkuraya-Kucinskas Syndrome	Lissencephaly, Small scrotum, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callo...	OMIM:617822
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Peripheral ax...	OMIM:615157
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e...	OMIM:601455
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Pigmentary retinopathy, Cryptorchidism, Optic nerve dysplasia, Brushfield s...	OMIM:214110
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia...	OMIM:618325
Chédiak-Higashi Syndrome	Epistaxis, Abnormality of neutrophil physiology, Cerebellar atrophy, Increased circulating ferrit...	ORPHA:167
Paget Disease Of Bone 5, Juvenile-Onset	Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration	OMIM:239000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Spinocerebellar Ataxia 10	Decreased nerve conduction velocity, Cerebellar atrophy, Abnormal pyramidal tract morphology	OMIM:603516
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Facial diplegia, Mildly elevated creatine kinase	ORPHA:329478
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Rh Deficiency Syndrome	Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Cerebellar vermis hypoplasia, Basal ganglia calcification, Cerebral calcification,...	OMIM:617281
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Cerebellar vermis hypoplasia, Dilated cardiomy...	OMIM:242840
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Cardiomyopathy, Retinopathy, Retinal d...	OMIM:252600
Friedreich Ataxia	Optic atrophy, Decreased amplitude of sensory action potentials, Congestive heart failure, Hypert...	OMIM:229300
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Absence of pubertal development, Hypoplasia of the corpus callosum,...	ORPHA:314679
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:616688
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr...	OMIM:115197
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Mildly elevated creatine kinase, Amyotrophic lateral sclerosis	ORPHA:600
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia	ORPHA:444051
Cockayne Syndrome Type 3	Cerebellar dentate nucleus calcification, Subdural hemorrhage, Cardiomyopathy, Basal ganglia calc...	ORPHA:90324
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Cerebellar atrophy, Neurodegeneration, Motor axonal neuropathy, Abnormal lower mot...	OMIM:614298
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypo...	ORPHA:444072
Kanzaki Disease	Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration	OMIM:609242
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Cervical spinal cord at...	ORPHA:101085
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:610532
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Cerebellar atrophy, Facial diplegia, Hypoplasia of the...	OMIM:618186
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Facial palsy, Secondary ...	OMIM:157640
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Myelopathy, Primary adrenal insufficiency, Abnormal brainstem white matter mor...	ORPHA:139396
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Macular atrophy	OMIM:212550
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Primary amenorrhea	ORPHA:502423
Distal Deletion 13Q	Primary adrenal insufficiency, Renal hypoplasia/aplasia	ORPHA:1590
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL choleste...	ORPHA:98855
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia, Optic atrophy, Decreased motor nerve conduction velocity, Spinal cord posterior col...	ORPHA:1187
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity	OMIM:607831
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Leukoencephalopathy, Abnormal optic nerve morphology, Cerebral atrophy, Hypoplasia of the corpus ...	ORPHA:83629
Hurler Syndrome	Abnormal nerve conduction velocity, Cardiomyopathy, Retinopathy, Angina pectoris, Hypertension	ORPHA:93473
Senior-Loken Syndrome 8	Retinal dystrophy, Pancreatic cysts, Rod-cone dystrophy, Macular atrophy	OMIM:616307
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity	OMIM:270685
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity	OMIM:118300
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the ...	OMIM:216550
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins...	ORPHA:54595
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:98853
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy	ORPHA:436245
Metachromatic Leukodystrophy	Abnormal cerebral white matter morphology, Decreased nerve conduction velocity, Optic atrophy	OMIM:250100
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Neurodege...	OMIM:214500
Ppoma	Gastrointestinal hemorrhage, Intestinal carcinoid, Pituitary adenoma, Increased circulating corti...	ORPHA:97278
Somatostatinoma	Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol level, Increased c...	ORPHA:97283
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity	OMIM:118220
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Punctate periventricular T2 hyperintense foci, Optic atrophy...	ORPHA:309256
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Optic disc coloboma, Chorioret...	OMIM:213300
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Graft Versus Host Disease	Tachycardia, Hyperbilirubinemia	ORPHA:39812
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity	OMIM:604563
Scheie Syndrome	Aortic regurgitation, Abnormal nerve conduction velocity	ORPHA:93474
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Clitoral hypertrophy, Pigmentary retinopathy, Absent septum pellu...	OMIM:309801
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Punctate periventricular T2 hyperintense foci, Optic atrophy...	ORPHA:309263
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Leigh Syndrome	Diffuse spongiform leukoencephalopathy, Optic atrophy, Neuronal loss in basal ganglia, Cerebellar...	ORPHA:506
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Cryptorchidism, Agenesis of corpus callosum, Dysplastic corpus callosu...	OMIM:151050
Bohring-Opitz Syndrome	Optic atrophy, Cholelithiasis, Annular pancreas, Hypoplasia of the corpus callosum, Agenesis of c...	ORPHA:97297
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy	OMIM:618321
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho...	ORPHA:98863
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Primary amenorrhea	OMIM:617675
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Decreased nerve conduction velocity, Adrenal insufficiency, Rod-cone dystrophy, Re...	OMIM:614863
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility	OMIM:614874
Grfoma	Gastrointestinal hemorrhage, Intestinal carcinoid, Pituitary adenoma, Increased circulating corti...	ORPHA:97261
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:145900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Abnormal atrioventricular conduction, Congestive heart failure, Hype...	ORPHA:280365
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creatinine conc...	OMIM:120330
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Glycerol Kinase Deficiency	Increased urinary glycerol, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatiti...	OMIM:307030
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of visua...	OMIM:601152
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary...	ORPHA:95494
Cohen Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cryptorchidism, Chorioretinal dystrophy, Abno...	ORPHA:193
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration	OMIM:250410
Cardiac Diverticulum	Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre...	ORPHA:1686
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Prader-Willi Syndrome	Precocious puberty, Decreased HDL cholesterol concentration, Decreased response to growth hormone...	OMIM:176270
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Hypotension, Syncope	ORPHA:98849
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re...	OMIM:615577
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration, Pancreatic fibrosis, Pulmonary insufficiency, Pancreatic cysts, Conjugated ...	OMIM:208500
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Meningioma	Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu...	ORPHA:2495
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Yuan-Harel-Lupski Syndrome	Syringomyelia, Decreased nerve conduction velocity	OMIM:616652
Mucopolysaccharidosis Type 2	Optic atrophy, Cardiomyopathy, Decreased nerve conduction velocity, Retinopathy, Abnormality of r...	ORPHA:580
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction, Elevated circulating creatine kinase concentration	OMIM:617072
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Hypotriglyceridemia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory ac...	OMIM:256840
Prader-Willi Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop...	ORPHA:739
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Adrenal insufficiency, Hypohidrosis, Orthostatic hypotension	OMIM:615510
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity	OMIM:118200
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Azoospermia, Hypoplasia of the corpus callosum, Spontaneous, recurrent epistaxis,...	ORPHA:2072
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Hypotension, Abnormal brainstem morphology...	ORPHA:93256
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Bone marrow hypocellularity, Cranial nerve compression, Basal ganglia calcificatio...	ORPHA:2785
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Chorioretinal coloboma, Macular atrophy	OMIM:602499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Pigmentary retinopathy	OMIM:613154
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Gastrointestinal hemorrhage, Macular degeneration, Angioid streaks of the fundus	OMIM:177850
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:192
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Abnormal circulating aldosterone, Decreased circulating renin l...	OMIM:300539
Nijmegen Breakage Syndrome	Progressive vitiligo, Retinal pigment epithelial mottling, Neurodegeneration, Premature ovarian i...	OMIM:251260
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity	OMIM:614895
Friedreich Ataxia	Optic atrophy, Decreased motor nerve conduction velocity, Cardiomyopathy, Cervical spinal cord at...	ORPHA:95
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli...	OMIM:269200
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Neurodegeneration, Optic atrophy	OMIM:618476
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degenerat...	OMIM:234200
Aicardi Syndrome	Precocious puberty, Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of re...	ORPHA:50
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	OMIM:206900
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Syringomyelia, Decreased nerve conduction velocity	ORPHA:477817
Developmental And Epileptic Encephalopathy 111	Premature ventricular contraction, Hypertension, Sinus tachycardia, Nephrolithiasis	OMIM:620504
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Periventricular leukomalacia, Hyperintensity of cerebral whi...	ORPHA:512
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:201300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop...	OMIM:608940
Ethylmalonic Encephalopathy	Abnormal basal ganglia MRI signal intensity, Retinal vascular tortuosity, Abnormal brainstem MRI ...	ORPHA:51188
Poliomyelitis	Hypovolemic shock, Hypotension, Myelitis, Abnormal motor nerve conduction velocity, Hypertension	ORPHA:2912
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Optic disc coloboma, Retinal coloboma, Polymicrogyria, Cryptorchidi...	OMIM:615948
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Midline brainstem cleft, Hypoplasia of the pons, Agenesis...	OMIM:617542
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude	OMIM:618279
Poems Syndrome	Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Hypot...	ORPHA:2905
Hurler Syndrome	Aortic regurgitation, Mitral regurgitation, Cardiomyopathy, Retinal degeneration	OMIM:607014
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:162400
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Hypopigmented skin patches, Abnormality of retin...	ORPHA:2556
Zellweger Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Primary adrenal insufficiency, Hypospadias	ORPHA:912
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Hypercalcemia, Hypocalcemia, Focal white matter lesions	ORPHA:557003
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia	OMIM:617877
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cerebral cortical atrophy, Clitoral hypertrophy, Pigmentary retinopathy, Cryptorchidism, Optic di...	OMIM:214100
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Goiter, Reduced left ventricular ejection fraction, Palpitations, Elevate...	ORPHA:254892
Kniest Dysplasia	Vitreoretinopathy, Retinal detachment, Spinal cord compression, Rhegmatogenous retinal detachment...	ORPHA:485
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Impotence, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Sarcoidosis	Nephrocalcinosis, Parotitis, Renal insufficiency, Portal hypertension, Nephrolithiasis, Abnormali...	ORPHA:797
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Hypotension, Primary hypercortisolism, Palpitations, Adrenocorticotrop...	ORPHA:100079
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98754
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Microcephaly, Hypertriglyceridemia	OMIM:618010
Melas	Optic atrophy, Pigmentary retinopathy, Cerebral cortical atrophy, Vitiligo, Hypogonadotropic hypo...	ORPHA:550
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m...	ORPHA:64
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Hypoplasia of the corpus callosum, Focal white matter lesions, Decreased sensory n...	ORPHA:320375
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic atrophy, Clitoral hypertrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebellar vermi...	OMIM:614866
Multifocal Motor Neuropathy	Motor conduction block	ORPHA:641
Proteus Syndrome	Retinal nonattachment, Long penis, Thymus hyperplasia, Pulmonary embolism, Chorioretinal coloboma...	ORPHA:744
Glucagonoma	Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol level, Increased c...	ORPHA:97280
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Pigmentary retinopathy, Cryptorchidism	OMIM:614230
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Pontocerebellar atrophy, Elevated ...	OMIM:606002
Alport Syndrome	Clitoral hypertrophy, Vomiting, Macular degeneration, Retinal flecks, Dysphagia	ORPHA:63
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98793
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Microcephaly, Macroorchidism	OMIM:619950
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Retinal coloboma, Polymicrogyria, Hypo...	OMIM:616546
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177901
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Facial diplegia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter...	ORPHA:254930
Steinert Myotonic Dystrophy	Hyperinsulinemia, Decreased fertility, Prolonged PR interval, Secondary hyperparathyroidism, Male...	ORPHA:273
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio...	ORPHA:247234
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ...	ORPHA:488632
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Central nervous system degeneration, Retinal degeneration,...	ORPHA:581
Friedreich Ataxia 2	Abnormal medulla oblongata morphology, Concentric hypertrophic cardiomyopathy, Abnormality of the...	OMIM:601992
Amyotrophic Lateral Sclerosis	Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Dysplastic corpus callosum, Cerebe...	OMIM:300967
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block, Elevated circulating creatine kinase ...	OMIM:610131
Orofaciodigital Syndrome Type 14	Open operculum, Retinal coloboma, Bilateral cryptorchidism, Dilated fourth ventricle, Hypoplasia ...	ORPHA:434179
Parkinson Disease 23, Autosomal Recessive Early-Onset	Cerebral cortical atrophy, Neurofibrillary tangles, Abnormal autonomic nervous system physiology	OMIM:616840
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Ogden Syndrome	Torsade de pointes, Premature atrial contractions, Hyperbilirubinemia, Supraventricular tachycard...	OMIM:300855
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Bilateral cryptorchidism, Supernumerary nipple, Tricuspid regurgitation, Cryptorchidism, Hypoplas...	ORPHA:466791
Wilson Disease	Hypouricemia, Hypoalbuminemia, Decreased nerve conduction velocity, Face of the giant panda sign,...	OMIM:277900
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Renal insu...	OMIM:181270
Spinocerebellar Ataxia Type 7	Macular degeneration, Cerebellar atrophy, Cerebral atrophy, Abnormal fundus morphology, Cone/cone...	ORPHA:94147
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora	OMIM:266270
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology, Transient ischemic attack, Subarachnoid hemorrhage, Encephalomalac...	ORPHA:231160
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Neurofibrillary tangles, Neuronal loss in central nervous system	OMIM:607485
Superficial Siderosis	Abnormal corpus callosum morphology, Cerebellar atrophy, Abnormality of the vestibulocochlear ner...	ORPHA:247245
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Peripheral axonal neuropathy, Atrophy/Degeneration involving the spinal cord, Sensory axonal neur...	OMIM:607459
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,...	ORPHA:2526
Alzheimer Disease 3	Cerebral cortical atrophy, Neurofibrillary tangles	OMIM:607822
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ...	OMIM:619488
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebral cortex mor...	ORPHA:68
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Agenesis of corpus callosum, Microcephaly, Congenital stationary ni...	ORPHA:314621
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Abnormal putamen morphology, Choroid hemorrhage, Cerebral edema, A...	ORPHA:88619
Tetrasomy 9P	Lissencephaly, Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Pulmonary arterial...	ORPHA:3310
Lesch-Nyhan Syndrome	Testicular atrophy, Hyperuricemia	OMIM:300322
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl...	ORPHA:488627
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation	ORPHA:394
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Fibrous Dysplasia Of Bone	Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Hyperpitu...	ORPHA:249
Acute Liver Failure	Acute kidney injury, Gastrointestinal hemorrhage, Hypotension, Shock, Adrenal insufficiency, Hype...	ORPHA:90062
X-Linked Charcot-Marie-Tooth Disease Type 2	Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy	ORPHA:101076
Fanconi Anemia, Complementation Group A	Microcephaly, Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility	OMIM:227650
Neurofibromatosis Type 1	Precocious puberty, Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melan...	ORPHA:636
Trisomy 18	Abnormality of retinal pigmentation, Cryptorchidism, Abnormal morphology of female internal genit...	ORPHA:3380
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT...	ORPHA:96253
Gm2-Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	OMIM:272750
Microcephaly 26, Primary, Autosomal Dominant	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Pachygyria, Simplifi...	OMIM:619179
Alzheimer Disease 4	Senile plaques, Neurofibrillary tangles	OMIM:606889
Zttk Syndrome	Aortic regurgitation, Optic atrophy, Absent gallbladder, Periventricular leukomalacia, Hypoplasia...	OMIM:617140
Hereditary Sensory And Autonomic Neuropathy Type 1	Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials	ORPHA:36386
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Primary Sjögren Syndrome	Vasculitis, Arteritis, Parotitis, Abnormal cerebellum morphology, Increased circulating antibody ...	ORPHA:289390
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Cone/cone-rod dystro...	ORPHA:404454
Aspartylglucosaminuria	Microcephaly, Macroorchidism, Mitral regurgitation, Cerebral atrophy	OMIM:208400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Highly elevated creatine kinase, Cardiomyopathy, Reduced left ventricular ejection fraction, Pont...	ORPHA:258
Combined Oxidative Phosphorylation Deficiency 53	Elevated circulating C-reactive protein concentration, Secondary microcephaly, Dysplastic corpus ...	OMIM:619423
Early-Onset Autosomal Dominant Alzheimer Disease	Cerebral cortical atrophy, Neurofibrillary tangles	ORPHA:1020
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Decreased circulating IgG level, Abnormal cerebral cortex morphology, Chiari malfo...	ORPHA:500150
Farber Disease	Chronic diarrhea, Macular degeneration, Brain atrophy, Cherry red spot of the macula	ORPHA:333
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Ocular albinism	ORPHA:2720
Cystinosis, Nephropathic	Pigmentary retinopathy, Male hypogonadism, Hypopigmentation of the skin, Retinal pigment epitheli...	OMIM:219800
Neurodegeneration With Brain Iron Accumulation 3	Neurodegeneration	OMIM:606159
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Truncus Arteriosus	Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of the thymus, Adrenocortical a...	ORPHA:3384
Legius Syndrome	Male urethral meatus stenosis, Xanthelasma, Nephroblastoma, Nephrolithiasis, Paroxysmal atrial ta...	ORPHA:137605
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic c...	OMIM:614924
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Telangiecta...	OMIM:616007
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles	OMIM:606688
Alstrom Syndrome	Irregular menstruation, Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-r...	OMIM:203800
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis, Abnormal optic nerve ...	ORPHA:99949
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude	OMIM:620080
Knobloch Syndrome	Abnormal vitreous humor morphology, Macular degeneration, Retinal detachment, Vitreoretinopathy	ORPHA:1571
Xq21 Microdeletion Syndrome	Optic atrophy, Reticular pigmentary degeneration, Decreased response to growth hormone stimulatio...	ORPHA:1435
Niemann-Pick Disease, Type C1	Neurofibrillary tangles, Neuronal loss in central nervous system	OMIM:257220
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Segmental peripheral demyelination/remyelination, Rod-cone...	ORPHA:255210
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He...	ORPHA:790
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Macular degeneration, Attenuation of retinal blood vessels, Hypoplasia of the corpus callosum, Mi...	OMIM:266920
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Arnold-Chiari Malformation Type I	Myelopathy, Brain stem compression, Cranial nerve compression, Abnormality of the vestibulocochle...	ORPHA:268882
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Arima Syndrome	Optic atrophy, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Hypoplasia of the brainstem,...	OMIM:243910
Ataxia, Sensory, 1, Autosomal Dominant	Abnormal cerebellum morphology, Decreased amplitude of sensory action potentials	OMIM:608984
Tick-Borne Encephalitis	Myelitis, Abnormal medulla oblongata morphology, Increased circulating IgM level, Abnormal crania...	ORPHA:297
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Micropenis, Tachycardia, Patent urachus, Enlarged kidney	OMIM:618280
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Cardiomyopathy, Recurrent urinary tract infections, Decreased response to gro...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Cardiomyopathy, Recurrent urinary tract infections, Decreased response to gro...	ORPHA:363958
Gerstmann-Straussler Disease	Cerebellar atrophy, Neurofibrillary tangles	OMIM:137440
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar vermis atrophy, Decreased distal sensory nerve action potential, Cerebellar atrophy, A...	OMIM:614575
Ataxia-Telangiectasia-Like Disorder 2	Neurodegeneration, Cerebellar atrophy	OMIM:615919
Full Nf2-Related Schwannomatosis	Myelopathy, Abnormal optic nerve morphology, Bilateral vestibular schwannoma, Brain stem compress...	ORPHA:637
Hypermobile Ehlers-Danlos Syndrome	Menometrorrhagia, Epistaxis, Decreased nerve conduction velocity, Cystocele, Decreased fertility,...	ORPHA:285
Abetalipoproteinemia	Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy	ORPHA:14
Cushing Syndrome Due To Ectopic Acth Secretion	Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas...	ORPHA:99889
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Abnormality of retinal pigmentation	ORPHA:175
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity	OMIM:613640
Semilobar Holoprosencephaly	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	ORPHA:220386
Alobar Holoprosencephaly	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	ORPHA:93926
Lobar Holoprosencephaly	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	ORPHA:93924
Supranuclear Palsy, Progressive, 1	Neurofibrillary tangles, Cerebral atrophy, Neuronal loss in central nervous system, Senile plaque...	OMIM:601104
Spinal Arteriovenous Metameric Syndrome	Spinal arteriovenous malformation, Abnormal spinal cord morphology, Congestive heart failure	ORPHA:53721
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Macular ...	OMIM:230800
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity	ORPHA:90658
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor...	ORPHA:217085
Witteveen-Kolk Syndrome	Microphallus, Male urethral meatus stenosis, Decreased response to growth hormone stimulation tes...	OMIM:613406
Aspartylglucosaminuria	Macroorchidism	ORPHA:93
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor...	ORPHA:217093
White-Kernohan Syndrome	Dysplastic corpus callosum, Hypothyroidism, Rectovaginal fistula	OMIM:619426
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Macular atr...	OMIM:619418
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Microcephaly, Hypothyroidism, Hypoplasia of the corpus callosum	OMIM:618569
Mosaic Trisomy 20	Abnormal spinal cord morphology, Cryptorchidism	ORPHA:1724
Mucopolysaccharidosis, Type Vii	Neurodegeneration	OMIM:253220
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh...	OMIM:620066
Microphthalmia, Syndromic 2	Aortic valve stenosis, Adrenal insufficiency, Hypothyroidism, Hypospadias, Pulmonic stenosis	OMIM:300166
Plague	Hypotension, Tachycardia, Arrhythmia, Hematemesis	ORPHA:707
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypopigmentation of the skin, Neurofibroma, Bifid scrotum, Chorioretinal coloboma, Neurodegenerat...	OMIM:619475
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Neurodegeneration, Chordee, Phimosis, Optic nerve hypoplasia	OMIM:620455
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat...	ORPHA:91500
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Supranuclear Palsy, Progressive, 2	Neurofibrillary tangles, Neuronal loss in central nervous system, Granulovacuolar degeneration	OMIM:609454
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular tachycardia, Ab...	ORPHA:558
Pallister-Hall Syndrome	Precocious puberty, Unilateral renal agenesis, Secondary growth hormone deficiency, Bilateral ren...	ORPHA:672
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Adult-Onset Dystonia-Parkinsonism	Generalized cerebral atrophy/hypoplasia, Frontotemporal cerebral atrophy, Neurofibrillary tangles	ORPHA:199351
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential	OMIM:606071
Congenital Disorder Of Deglycosylation 1	Microcephaly, Decreased sensory nerve conduction velocity, Hyperalaninemia, Elevated circulating ...	OMIM:615273
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential	ORPHA:99956
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon, Retinal dysplasia, Poorly formed mete...	OMIM:601374
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of the autonomic nervous system, Abnormality of peripheral nerve conduction, Orthosta...	ORPHA:642
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous...	ORPHA:79138
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Retinoschisis, Optic neuropathy, Chorioretinal atrophy	OMIM:615651
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Abnormal midbrain morphology, Central hypothyroidism, Increased circulating...	ORPHA:293987
Noonan Syndrome 1	Hypogonadism, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Hypospadias, Male i...	OMIM:163950
Orofaciodigital Syndrome Type 4	Primary adrenal insufficiency, Renal agenesis, Renal hypoplasia/aplasia	ORPHA:2753
Niemann-Pick Disease, Type C2	Neurofibrillary tangles	OMIM:607625
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles	OMIM:117300
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Choreoacanthocytosis	Cerebral cortical atrophy, Dilated cardiomyopathy, Decreased amplitude of sensory action potentia...	ORPHA:2388
Stickler Syndrome	Gastroesophageal reflux, Abnormal vitreous humor morphology, Retinal detachment, Retinal hole, La...	ORPHA:828
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Brain stem compression	OMIM:602080
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype...	ORPHA:99125
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia, Wide penis, Cryptorchidism, Hypogon...	ORPHA:3455
Achondroplasia	Brain stem compression, Megalencephaly	OMIM:100800
Cystic Fibrosis	Absent vas deferens, Male infertility	ORPHA:586
Marshall-Smith Syndrome	Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension	OMIM:602535
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension	OMIM:606721
Holt-Oram Syndrome	Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia...	OMIM:142900
Listeriosis	Arteritis, Congestive heart failure, Abnormal brainstem MRI signal intensity, Myocarditis, Perica...	ORPHA:533
Osteogenesis Imperfecta	Syringomyelia, Aortic regurgitation, Brain stem compression, Cerebral hemorrhage	ORPHA:666
Primrose Syndrome	Neurodegeneration, Cryptorchidism, Hypergonadotropic hypogonadism, Bilateral cryptorchidism	OMIM:259050
Limb Body Wall Complex	Spina bifida occulta, Anencephaly, Abnormal spinal cord morphology, Spina bifida	ORPHA:2369
Juvenile Myoclonic Epilepsy	EEG with polyspike wave complexes	ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 11		OMIM:607628

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 Clcn2

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 Clcn2.

No publications found that use IMPC mice or data for Clcn2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Clcn2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Clcn2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Clcn2^{tm1e(EUCOMM)Wtsi}	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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