Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (1561 diseases)

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

Disease	Matching phenotypes	Source
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Leukoencephalopathy With Ataxia	Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy	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
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp...	OMIM:103900
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa...	OMIM:264350
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia	OMIM:268010
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:177735
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Trimethylaminuria	Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec...	OMIM:613677
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tachycardia, Porph...	OMIM:176200
Ceroid Lipofuscinosis, Neuronal, 2	Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu...	OMIM:204500
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Bardet-Biedl Syndrome 4	External genital hypoplasia, Cryptorchidism, Hypogonadism, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R...	OMIM:610951
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Central heterochromia, Hypogonadotropic hypogonadism, Peripheral axonal neur...	OMIM:275400
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retinopathy, Hy...	ORPHA:3363
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid...	OMIM:603373
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Isochromosomy Yp	Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size	ORPHA:98797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Gonadal dysgenesis, Retinal dysplasia	OMIM:615041
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614495
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:614322
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Nephrolithiasis, Intracranial hemorrh...	ORPHA:369929
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Ceroid Lipofuscinosis, Neuronal, 3	Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme...	OMIM:204200
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
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
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc...	ORPHA:90791
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Corpus callosum atrophy, Ret...	OMIM:619389
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Cerebral atrophy, EEG abnorma...	ORPHA:457205
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Coproporphyria, Hereditary	Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin...	OMIM:121300
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
47,Xyy Syndrome	Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre...	ORPHA:231632
Spermatogenic Failure 17	Male infertility	OMIM:617214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614496
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free fatty acid leve...	ORPHA:276575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter	OMIM:188580
Ceroid Lipofuscinosis, Neuronal, 1	Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera...	OMIM:256730
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased...	ORPHA:199343
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Peripheral axonal neuropathy, Cerebral atrophy	OMIM:619090
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration	OMIM:615993
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556037
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased circulating re...	OMIM:612780
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Abnormal renal tubular resorption, Congestive heart failure, Dilated cardio...	ORPHA:73224
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Microcephaly, Decreased nerve conduction velocity, Abnormal cerebellum morphol...	ORPHA:565624
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Organic aciduria, Elevated circulating creatine kin...	OMIM:255100
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypergonadotropic hypo...	OMIM:604168
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ...	ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy	OMIM:551500
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,...	OMIM:601678
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Syncope, Type I diabete...	ORPHA:276580
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m...	OMIM:602271
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Partington Syndrome	Macroorchidism, EEG abnormality, Facial telangiectasia	ORPHA:94083
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Episodic hyperhidrosis, Decreased circulating free fatty acid level, Syncope, Palpit...	ORPHA:276556
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration	OMIM:615981
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh...	ORPHA:171876
Cednik Syndrome	Microcephaly, Congestive heart failure, Optic atrophy, Hypogonadism, Pachygyria, Polymicrogyria, ...	ORPHA:66631
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular block, Primary hyperal...	OMIM:615474
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:98856
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr...	OMIM:614840
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari...	OMIM:228300
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re...	OMIM:256731
Macular Degeneration, Age-Related, 3	Peripheral axonal neuropathy, Choroidal neovascularization, Drusen, Decreased nerve conduction ve...	OMIM:608895
Morm Syndrome	Micropenis, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556030
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A...	OMIM:614436
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica...	OMIM:619386
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
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
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy	ORPHA:404451
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Episodic hyperhidrosis, Hyp...	ORPHA:324575
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Adrenal insuf...	ORPHA:85445
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale...	ORPHA:427
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis...	OMIM:214700
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Hypertension, Myocardial infarction	OMIM:608320
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Spinal Muscular Atrophy, X-Linked 2	Hypospadias, Facial palsy, Elevated circulating creatine kinase concentration, Cryptorchidism, De...	OMIM:301830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Liddle Syndrome 1	Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:177200
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate...	OMIM:115310
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Diabetes mellitus, Cryptorchidism, Optic atrophy, Cardiomyopathy, Arrhyt...	OMIM:249270
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati...	ORPHA:562
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Leukoencephalopathy, A...	OMIM:613724
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi...	ORPHA:478029
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D...	OMIM:203400
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se...	ORPHA:88628
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Retinopathy, Global bra...	OMIM:616811
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Cryptorchidism, Optic atrophy, Parietal cortical atrophy, Frontal cortical atrophy,...	OMIM:618766
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card...	ORPHA:263297
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ...	ORPHA:85327
8P23.1 Duplication Syndrome	Adrenal insufficiency, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys...	OMIM:610127
17Q11.2 Microduplication Syndrome	Macroorchidism, Microcephaly	ORPHA:139474
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Congestive heart failure, Increased total bilirubin	ORPHA:90037
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat...	ORPHA:368
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypogonadism, Cerebral cortical atrophy	ORPHA:1466
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic...	ORPHA:276608
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Peripartum Cardiomyopathy	Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car...	ORPHA:563
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat...	OMIM:604484
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Congestive heart failure, Focal EEG discharges with secondary generalization	ORPHA:3077
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:609152
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul...	ORPHA:85138
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, De...	OMIM:302800
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti...	ORPHA:199296
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:90103
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atro...	OMIM:252650
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy	OMIM:162100
Hereditary Coproporphyria	Hyponatremia, Dark urine, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri...	ORPHA:79273
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration	OMIM:300438
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran...	ORPHA:90795
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorc...	ORPHA:3085
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Krabbe Disease	Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel...	OMIM:245200
Fragile X Syndrome	Macroorchidism, Gastroesophageal reflux, Cerebral cortical atrophy	ORPHA:908
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Autosomal Recessive Spastic Paraplegia Type 21	Frontotemporal cerebral atrophy, Abnormal cerebellum morphology, Hypoplasia of the corpus callosu...	ORPHA:101001
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal...	OMIM:604360
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Spinocerebellar Ataxia 32	Cerebellar atrophy, Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy	ORPHA:3156
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert...	ORPHA:84090
Polyembryoma	Abnormal circulating gonadotropin concentration, Elevated circulating alpha-fetoprotein concentra...	ORPHA:180229
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum	OMIM:613162
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Axonal degeneration	OMIM:618138
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration	OMIM:616155
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Cryptorchidism, Optic atrophy, Microcephaly	OMIM:615419
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O...	ORPHA:791
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri...	OMIM:212138
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Lujan-Fryns Syndrome	Macroorchidism, Aplasia/Hypoplasia of the corpus callosum	ORPHA:776
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Warburg Micro Syndrome 4	Cerebellar atrophy, Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Per...	OMIM:615663
Naxos Disease	Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric...	ORPHA:34217
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno...	ORPHA:79644
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, External genital hypoplasia, Microcephaly, Cryptorchidism, Perisylv...	OMIM:600118
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration, Dec...	OMIM:615490
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity...	OMIM:618404
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Hyperh...	ORPHA:263455
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism, Microcephaly, EEG with generalized slow activity	OMIM:300055
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage...	OMIM:617575
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Microcephaly, Hypoplasia of the pons, Par...	OMIM:616171
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Elevated circulating creatine kinase concentration, Hypoplasia of the brainstem, Retinal dysplasi...	OMIM:236670
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration	OMIM:620011
Developmental And Epileptic Encephalopathy 28	Cerebral atrophy, Optic atrophy, Retinal degeneration	OMIM:616211
Laurence-Moon Syndrome	Pigmentary retinopathy, Micropenis, Small scrotum, Chorioretinal atrophy	OMIM:245800
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Decreased fert...	ORPHA:1173
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Cer...	OMIM:268020
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke...	OMIM:619260
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom...	OMIM:617610
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi...	ORPHA:644
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal...	ORPHA:320
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Microcephaly, Polycystic ovaries	ORPHA:284180
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Congenital Muscular Dystrophy With Intellectual Disability	Facial palsy, Cryptorchidism, Pigmentary retinopathy, Micropenis, Cerebral cortical atrophy	ORPHA:370968
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Irregular menstruation, Rod-cone dystrophy, Retinal dege...	OMIM:615986
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Decreased female libido, Decreased circulating cortisol le...	ORPHA:95409
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai...	ORPHA:98755
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Hypoplasia of the pons, Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly	OMIM:618276
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Peripheral axonal degeneration, Axonal degeneration, Decreased number of larg...	OMIM:208920
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Retro...	OMIM:619737
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Hydroxykynureninuria	Renal tubular acidosis, Abnormal circulating tryptophan concentration, Tachycardia, Hypotension	ORPHA:79155
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:218030
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Retinal atrophy, Hypoplasia of the pons, Corpus callosum atrophy, Parietal co...	ORPHA:412057
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen...	OMIM:604320
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia...	OMIM:601005
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Retinal detachment, Optic nerve h...	ORPHA:370959
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Hypertrophic cardiomyopathy, Hypospadias, Cryptorchidism	OMIM:620135
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, EEG with abnormally slow frequencies, Dysplastic corpus callosum, ...	ORPHA:599373
Optic Atrophy 8	Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po...	OMIM:616648
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s...	OMIM:615962
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Cafe-au-lait...	ORPHA:166035
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration	OMIM:618811
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Diaminopentanuria	Neurodegeneration	OMIM:222350
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Elevated circ...	ORPHA:370022
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro...	ORPHA:79473
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl...	ORPHA:171680
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Increased total bilirubin	ORPHA:90036
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, External genital hypoplasia	OMIM:600151
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ...	ORPHA:481
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function, Atrial fib...	ORPHA:439232
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Retinal telangiectasia	ORPHA:438134
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minor...	ORPHA:2510
De Sanctis-Cacchione Syndrome	Hypermelanotic macule, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Cerebral atr...	OMIM:278800
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Abnormal nerve conduction velocity, Atrophy/Degeneration affecting the brainstem	OMIM:619862
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy	OMIM:615147
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Hypergonadotropic hypogonadism	OMIM:614307
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Cardiac arres...	OMIM:616878
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ...	ORPHA:139399
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Hypogonadism, ...	OMIM:615994
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Cerebral cortical atrophy, Abnormality of peripheral nerve conduction	ORPHA:48431
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Macroorc...	ORPHA:324410
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemi...	ORPHA:97289
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Adrenocortical adenoma, Pheochromocytoma,...	ORPHA:139411
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinas...	ORPHA:94093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Agenesis of cerebellar vermis, Elevated circulating creatine kinase concentra...	OMIM:613153
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked potentials...	ORPHA:168491
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera...	ORPHA:79264
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro...	ORPHA:391428
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Micropenis, Tachycardia	OMIM:613870
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti...	OMIM:616040
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Basal ganglia calcification, Hypokalemia, Hyperp...	OMIM:601198
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Arrhythmia, Premature ovarian insufficiency	ORPHA:2928
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur...	OMIM:611705
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Lower Motor Neuron Syndrome With Late-Adult Onset	Abnormal sensory nerve conduction velocity, Elevated circulating creatine kinase concentration	ORPHA:276435
Abetalipoproteinemia	Retinopathy, Peripheral demyelination, Retinal degeneration	OMIM:200100
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism...	ORPHA:3143
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Bardet-Biedl Syndrome 6	Hypospadias, External genital hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Vaginal atr...	OMIM:605231
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Decreased compound muscle action potential amplitude	OMIM:619112
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re...	OMIM:615960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Cryptorchidism, Pigmentary retinopathy, Micropenis, Cerebral cortical atrophy	OMIM:613156
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Simplified gyral pattern, Abnormal brainstem morphology, Abnormal cerebral cortex ...	ORPHA:411493
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Renal tubular acidosis, Car...	OMIM:530000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Elevated circulating creatine kina...	OMIM:613155
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricular tachycardia...	OMIM:263800
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Denys-Drash Syndrome	Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma	ORPHA:220
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor...	ORPHA:206594
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio...	ORPHA:976
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Glutaric Aciduria Iii	Glutaric aciduria, Hyperthyroidism, Hypertension, Goiter	OMIM:231690
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, C...	OMIM:222300
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:26793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Type II lissencephaly, Microcephaly, Progress...	OMIM:615249
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Optic atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem	OMIM:612319
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Tachycardia, Congestive heart failure	ORPHA:90033
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Abnormal basal ganglia MRI signal intensity, Abnormal mito...	ORPHA:485421
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Combined Oxidative Phosphorylation Deficiency 34	Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone concentration, P...	OMIM:617872
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Retinal dystrophy, Chorioretinal dysplasia, Absent septu...	ORPHA:899
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Tachycardia, Urinary incontinence, Dysuria, Porphy...	ORPHA:79276
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Decreased motor nerve conduction velocity, Increased serum sorbitol concentration, Decreased ampl...	OMIM:618912
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac...	OMIM:270200
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Cryptorchidism, EEG with burst suppression, Dysgenesis of the basal ganglia, Hypsarrhythmia, Liss...	OMIM:620316
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:98890
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration	OMIM:616687
Congenital Myopathy 10A, Severe Variant	Elevated circulating creatine kinase concentration, Facial palsy, Abnormal motor nerve conduction...	OMIM:614399
Distal Hereditary Motor Neuropathy Type 5	Abnormal motor nerve conduction velocity	ORPHA:139536
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Increased circulating...	OMIM:235200
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Cerebral atrophy, Facia...	OMIM:160900
Alg6-Cdg	Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and...	ORPHA:79320
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr...	OMIM:201810
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he...	OMIM:300257
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism, Cerebellar dysplasia	OMIM:250951
Ataxia-Deafness-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Decreased nerve conduction velocity, Cerebral cortical atrophy	ORPHA:1188
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, High-output congestive heart failure, Hyperkalemia, Vent...	ORPHA:423
Null Syndrome	Decreased nerve conduction velocity, Abnormal cerebellum morphology, Optic atrophy, Abnormality o...	ORPHA:280234
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper...	OMIM:614736
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity	ORPHA:101075
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M...	ORPHA:90790
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Microcephaly, Decreased nerve conduction velocity, Basal ganglia calcificatio...	OMIM:610651
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,...	ORPHA:159
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo...	ORPHA:173
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Elevated circulating creatinine con...	OMIM:223900
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Intracra...	ORPHA:340
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Increased circulating ACTH level, Adrenal insufficiency, Abnormality of adren...	ORPHA:43
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Optic atr...	OMIM:609260
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Elevated circulating creatine kinase concentrati...	OMIM:600649
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Peripheral axonal neuropathy, Retinal degeneration	OMIM:270700
Monomelic Amyotrophy	Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction	ORPHA:65684
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Hydrocele testis, Hypertrophic cardiomyopathy, Cerebellar hypoplasia,...	OMIM:618810
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone...	ORPHA:436245
Non-Specific Early-Onset Epileptic Encephalopathy	Cerebral atrophy, Optic atrophy, Brain atrophy, Retinal degeneration	ORPHA:442835
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentrati...	ORPHA:90068
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy	ORPHA:99014
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus, Hyperhidrosis	OMIM:184850
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Precocious puberty, Microce...	ORPHA:280195
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Ventricular arrhythmia, Autoimmune hypoparathyroi...	ORPHA:36913
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Premature ovarian insufficiency, Neurodegeneration	OMIM:615889
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Decreased circulating T...	ORPHA:90674
Scheie Syndrome	Retinal degeneration	OMIM:607016
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:95512
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level	ORPHA:264675
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal...	ORPHA:1764
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration	ORPHA:352675
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Agenesis of corpus callosum	OMIM:309520
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Motor conduction block, Abnormal nerve conduction velocity	ORPHA:2932
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h...	ORPHA:31826
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine k...	OMIM:615181
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol	OMIM:229700
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Bile duct pr...	OMIM:610688
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Mildly elevated creatine kinase	OMIM:615376
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased amplitude of sensory action potentials	OMIM:608673
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:95513
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Senior-Loken Syndrome 9	Macular degeneration, Retinal dystrophy, Hypogonadism, Rod-cone dystrophy	OMIM:616629
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Decreased nerve conduction velocity, Abnormal motor evoked potentials, Extremely elevated creatin...	ORPHA:99939
Cach Syndrome	Cerebellar atrophy, Premature ovarian insufficiency, Microcephaly, Optic atrophy, Nonketotic hype...	ORPHA:135
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased distal ...	OMIM:601098
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Leprechaunism	Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem...	ORPHA:508
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h...	OMIM:616299
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Polymicrogyria, Hypospadias, Microcephaly	OMIM:618874
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El...	ORPHA:95716
Bardet-Biedl Syndrome 1	Decreased testicular size, Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dy...	OMIM:209900
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Peripheral axonal neuropathy, Atrophy of the spinal cord, Abnormality of...	ORPHA:2822
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal flecks, Yellow/white lesions of the...	ORPHA:100996
Trisomy 20P	Hypospadias, Spina bifida, Cryptorchidism, Abnormal autonomic nervous system physiology, Macroorc...	ORPHA:261318
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic...	ORPHA:71273
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:91355
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy	OMIM:609304
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag...	ORPHA:897
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria...	ORPHA:466677
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua...	OMIM:601152
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricular outflow...	ORPHA:860
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:608323
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cryptorchidism, Basal ganglia calcification, Optic atrophy, ...	ORPHA:90321
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Serotonin Syndrome	Tachycardia, Hyperhidrosis, Hypertension, Hypotension, Acute kidney injury	ORPHA:43116
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Peho Syndrome	Cerebellar atrophy, Optic atrophy, Undetectable visual evoked potentials, Peripheral dysmyelinati...	OMIM:260565
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude	OMIM:605726
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abn...	ORPHA:909
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Diffuse white mat...	OMIM:218000
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Increased serum iron, Hypogonadism, Adrenal insuffi...	ORPHA:300298
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Microcephaly, Cryptorchidism, Chorioretinal coloboma, Inferior cerebellar verm...	ORPHA:139471
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials, Cerebral ...	ORPHA:1947
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy...	ORPHA:90363
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity	OMIM:611228
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I...	ORPHA:347
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus	ORPHA:1573
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Ravine Syndrome	Abnormal basal ganglia morphology, Abnormal brainstem morphology, Abnormal auditory evoked potent...	ORPHA:99852
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Aplasia/Hypoplasi...	ORPHA:3426
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Adrenocorticotropin receptor defec...	OMIM:231550
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Hypertrophic cardiomyopathy	ORPHA:868
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Mepan Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials	ORPHA:508093
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy, Reduced sperm motility	OMIM:615434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Elevated circulating creatine kinase concentration, Absent septum ...	OMIM:615287
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal...	OMIM:300578
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Aceruloplasminemia	Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased...	ORPHA:48818
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Mitochondrial Complex I Deficiency, Nuclear Type 16	Adrenal insufficiency	OMIM:618238
Dietary Iron Overload Disease	Diabetes mellitus, Increased circulating ferritin concentration, Abnormal thyroid morphology, Ele...	ORPHA:139507
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta...	ORPHA:95717
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Abnormal circulating creatine kinase concentration	OMIM:620068
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Cerebral atrophy, Axonal loss, Neurodegeneration, Peripheral demyelination, C...	OMIM:617672
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno...	OMIM:616875
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Vestibular schwannoma	OMIM:613641
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Cardiomyopathy	OMIM:610100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity	OMIM:620111
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Hypospadias, Microcephaly, Cryptorchidism, Hypoplasia of the brainstem, Cerebe...	ORPHA:500159
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology	OMIM:605253
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Abnormal cerebral white matter morphology, Decreased nerve conduction velocity	OMIM:159550
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Microcephaly, Decreased...	OMIM:216400
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas...	OMIM:240300
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper...	OMIM:614473
Beta-Thalassemia Intermedia	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Proximal tubulopathy...	ORPHA:231222
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity, Chorioretinal atrophy, Hyperammonemia, Hyperornithinemia, Ce...	OMIM:238970
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Congestive heart failure, Arrhy...	ORPHA:85446
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Hypospadias, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, ...	OMIM:619103
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Hypospadias, Microcephaly, Cryptorchidism, Optic atrophy, Agenesis of corpus callosum	OMIM:300004
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity	OMIM:605589
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity	OMIM:302801
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Tachycardia, Elevated circulating creatine kinase c...	OMIM:614921
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Megalencephaly, Cryptorchidism, EEG abnormality, Abnormality of the Leydig cells, Te...	ORPHA:3063
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential	OMIM:607706
Cln3 Disease	Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce...	ORPHA:228346
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	EEG with focal spike waves, Cerebellar vermis hypoplasia, Retinal dystrophy, Elevated circulating...	ORPHA:370997
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Gómez-López-Hernández Syndrome	Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology	ORPHA:1532
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials, Cryptorchidism, Optic disc pallor	ORPHA:314389
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:2971
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Hypoalbuminemia,...	OMIM:607250
Trichothiodystrophy	Periventricular leukomalacia, Cerebral dysmyelination, Microcephaly, Cryptorchidism, Partial agen...	ORPHA:33364
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Hypoplasia of penis, Diabetes insipidus, Optic nerve hypoplasia, Anterior ...	ORPHA:3157
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, Elevate...	ORPHA:90117
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration	ORPHA:101082
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity	OMIM:607678
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:2518
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity	OMIM:615575
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Optic atrophy, Abnormality of visual evoked...	ORPHA:52368
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity, Abnormal basal ganglia morphology, Small basal ganglia	ORPHA:263410
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration	ORPHA:435387
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypertension, Hypophospha...	OMIM:618913
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Facial palsy	OMIM:118210
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly	OMIM:618010
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Diabetes mellitus, Morning glory anomaly, Corpus callosum atrophy, Basal gang...	ORPHA:98673
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity	OMIM:613287
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, EEG abnorma...	OMIM:614833
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity	OMIM:606595
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity	OMIM:600361
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp...	ORPHA:90794
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity	ORPHA:101078
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity	ORPHA:1368
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude	OMIM:619519
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:619279
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Macular degeneration	ORPHA:284289
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials...	ORPHA:480898
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Diabetes mellitus, Cardiac arrest	ORPHA:49827
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ...	ORPHA:99827
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia	OMIM:618184
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Optic atrophy, Abnormal brainstem morphology, Telangiectasia, Aplasia...	ORPHA:79279
Combined Oxidative Phosphorylation Defect Type 13	Decreased nerve conduction velocity, Abnormal basal ganglia morphology, Abnormal corpus striatum ...	ORPHA:319514
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Por...	ORPHA:465508
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Motor conduction block	ORPHA:99948
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Decreased distal sensory nerve action potential, Mildly elevated creatine kinase	OMIM:618400
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste...	ORPHA:35069
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Macular degeneration	OMIM:619780
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Congenital Fibrinogen Deficiency	Micropenis, Tachycardia, Internal hemorrhage	ORPHA:335
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Hypogonadotropic hypogonadism, Hypergonadotropic hypog...	ORPHA:298
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy, Optic atrophy	OMIM:612674
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Pituitary nul...	ORPHA:913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Optic atrophy, Hypoplastic labia majora, Undetectable visual evoke...	OMIM:614225
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ...	ORPHA:2524
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Joubert Syndrome 37	Cerebellar vermis hypoplasia, Cryptorchidism, Hypoplasia of the corpus callosum, Molar tooth sign...	OMIM:619185
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Microcephaly	OMIM:615284
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Myocardial infarction, Microcephaly, Micro...	ORPHA:457240
Mirizzi Syndrome	Dark urine, Tachycardia, Pancreatitis, Hyperbilirubinemia	ORPHA:521219
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ...	OMIM:131100
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles, Senile plaques	DECIPHER:48
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Cockayne Syndrome	Cerebral calcification, Basal ganglia calcification, Retinal arteriolar constriction, Retinal deg...	ORPHA:191
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Aganglionic megacolon, Microcephaly, Cryptorchidism, Ambiguous genitalia, Pa...	ORPHA:452
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Hypovolemia, Ele...	ORPHA:90041
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy	ORPHA:702
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Increased circulating thyroglobulin level, Abn...	ORPHA:356961
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity	OMIM:609311
Neurodegeneration With Brain Iron Accumulation 6	Neurodegeneration, Motor axonal neuropathy	OMIM:615643
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Adrenomyodystrophy	Abnormality of the urinary system, Primary adrenal insufficiency, Megacystis	ORPHA:977
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Kapur-Toriello Syndrome	Hypoplasia of penis, Dysplastic corpus callosum, Hypoplastic labia majora, Retinal coloboma, Pach...	ORPHA:2328
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Arrhythmia	ORPHA:99944
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Undetectable visual evoked potentials, Peripheral axonal neuropathy, Optic atrophy	OMIM:601338
Joubert Syndrome 15	Ambiguous genitalia, Retinal dystrophy, Molar tooth sign on MRI, Micropenis, Retinopathy	OMIM:614464
Autosomal Dominant Spastic Paraplegia Type 17	Abnormal motor nerve conduction velocity	ORPHA:100998
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubinemia	ORPHA:348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Multiple Sulfatase Deficiency	Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, Retinal degeneration	OMIM:272200
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity	OMIM:614932
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Mitochondrial swelling, Mildly elevated creatine kinase	ORPHA:397744
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Abnormal periventricular white matter morphology	OMIM:249900
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Bacterial Toxic-Shock Syndrome	Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Elevated circulating...	ORPHA:36234
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic...	ORPHA:1493
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat...	ORPHA:90673
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Chori...	ORPHA:163961
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Bilateral basal ganglia lesions, Hypoplasia of penis, Bilateral cryptorchi...	ORPHA:66634
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity	OMIM:183050
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Decreased nerve conduction velocity, Microcephaly	OMIM:618356
Bardet-Biedl Syndrome	Hypoplasia of penis, Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the ovary, Hypogonadism	ORPHA:110
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Diffuse cerebral atrophy, Elevated circulating creatine kinase concentration,...	OMIM:617193
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Central ner...	ORPHA:447788
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Bone Marrow Failure Syndrome 5	Hypogonadism, Decreased circulating antibody level, Testicular atrophy, Microcephaly	OMIM:618165
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy, Senile plaques	OMIM:608907
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity	ORPHA:101077
16P12.1P12.3 Triplication Syndrome	Tachycardia, Decreased response to growth hormone stimulation test	ORPHA:485405
Cockayne Syndrome B	Cerebellar calcifications, Abnormal auditory evoked potentials, Microcephaly, Decreased nerve con...	OMIM:133540
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ...	OMIM:601455
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	ORPHA:101081
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency	ORPHA:869
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m...	ORPHA:206448
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Ad...	OMIM:617053
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude	OMIM:600882
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, ...	ORPHA:199299
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Leukoence...	OMIM:603472
Optic Atrophy 11	Optic nerve hypoplasia, Microcephaly, Optic atrophy, EEG with focal sharp waves, Leukoencephalopa...	OMIM:617302
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Primary amenorrhea, Pigmentary retinopathy, H...	ORPHA:2235
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Choriore...	OMIM:618733
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Optic atrophy, Opto-chiasmatic atrophy, Cerebral atrophy, Neurodegeneration	OMIM:615491
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Myasthenia Gravis	Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Abnormal thymus morphology, G...	ORPHA:589
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Retinal degeneration	OMIM:277700
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Dilated cardiomyopat...	ORPHA:231226
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Dilated fourth ventricle, Optic disc pallor, Optic atr...	OMIM:164400
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer...	OMIM:606353
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles, Senile plaques	OMIM:605055
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Lethal Congenital Contracture Syndrome 5	Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, EEG with...	OMIM:615368
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Neurodegeneration, Cerebral atrophy	ORPHA:309246
Joubert Syndrome 2	Agenesis of cerebellar vermis, Retinal dystrophy, Brainstem dysplasia, Optic disc coloboma, Hypop...	OMIM:608091
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosu...	ORPHA:544488
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Immunodeficiency 54	Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:609981
Lennox-Gastaut Syndrome	EEG abnormality, Abnormal brainstem morphology, EEG with focal sharp slow waves	ORPHA:2382
Tularemia	Tachycardia	ORPHA:3392
Peroxisome Biogenesis Disorder 2B	Elevated circulating long chain fatty acid concentration, Adrenal insufficiency	OMIM:202370
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude	OMIM:618323
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Neurodegeneration	OMIM:616239
Wolman Disease	Adrenal insufficiency, Adrenal calcification, Steatorrhea	ORPHA:75233
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Portal hype...	OMIM:278000
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea...	OMIM:300539
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Caudal Duplication	Abnormal penis morphology, Spina bifida, Cryptorchidism, Uterus didelphys, Spinal cord lesion	ORPHA:1756
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Neurodegeneration, Brain atrophy	OMIM:214150
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Elevated circulating creatine kinase concentration, Microcephaly, Dysplast...	OMIM:619955
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Cardiomyopathy	ORPHA:93476
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Microcephaly, Lateral ventri...	OMIM:617751
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612079
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity	OMIM:302802
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cerebral calcification, Elevated circulating creatine kinase...	ORPHA:1933
Cln5 Disease	Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Corpus callosum at...	ORPHA:228360
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Oliguria, Bradycardia, Hypote...	ORPHA:90051
Sialidosis Type 1	Decreased nerve conduction velocity, Cherry red spot of the macula, Retinopathy, EEG abnormality	ORPHA:812
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Dyskeratosis Congenita, Autosomal Recessive 2	Cerebral calcification, Testicular atrophy, Bone marrow hypocellularity	OMIM:613987
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Froment sign	OMIM:162500
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity	OMIM:605285
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Microcephaly, Abnormal cerebral white matter morpholog...	OMIM:619026
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity	ORPHA:2926
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology...	ORPHA:467166
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Hypospadias, Microcephaly, Cryptorch...	ORPHA:464311
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Abnormal autonomic ne...	ORPHA:139578
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Microcephaly, Hypoplasia of the pons, Absent scrotum, Cerebellar hypoplasia, Dandy-Walker malform...	OMIM:618479
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity	OMIM:608236
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration	ORPHA:168549
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity	OMIM:605588
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Diabetes mellitus, Facial palsy, Hyperechogenic pancre...	ORPHA:456312
Beta-Thalassemia Major	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Dilated cardiomyopat...	ORPHA:231214
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Hypogonadotropic hypogonadism	ORPHA:494
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle...	ORPHA:157850
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Hypointensity of cerebr...	ORPHA:206436
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Microcephaly, Cerebral atrophy, Hypothyroidism, Thin c...	OMIM:619851
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Microcephaly, Cryptorchidism, Optic atrophy, Transient hypogamma...	ORPHA:3132
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Hyperhidrosis, Hypertension, Bradycardia	OMIM:614653
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap...	ORPHA:423479
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat...	OMIM:606070
Adrenoleukodystrophy	Urinary incontinence, Primary adrenal insufficiency, Hypogonadism, Elevated circulating long chai...	OMIM:300100
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Microphallus, Abnormal peri...	ORPHA:468631
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Decreased motor nerve conduction velocity, Elevated hemoglobin A1c, Cerebral ...	OMIM:616192
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia...	OMIM:616900
Imerslund-Gräsbeck Syndrome	Tachycardia, Proteinuria	ORPHA:35858
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Decreased circulating antibody level, Cerebral corti...	OMIM:248500
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of...	OMIM:617914
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Japanese Encephalitis	Decreased motor nerve conduction velocity, Hyponatremia, Hyperintensity of MRI T2 signal of the s...	ORPHA:79139
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Pulmonary embolism, Microcephaly, At...	ORPHA:79282
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Pearson Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr...	ORPHA:699
Friedreich Ataxia	Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:229300
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration	OMIM:239000
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Retinal atrophy, Elevated circulating creatine kinase concentration, Type I...	OMIM:253280
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity	ORPHA:3115
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Loss of Purkinje cells in the cerebellar vermis, Hyper...	OMIM:270550
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, ...	OMIM:618820
Usher Syndrome	Abnormality of retinal pigmentation, Cerebral cortical atrophy, Decreased fertility	ORPHA:886
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Supraventricular ...	ORPHA:97214
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Optic atrophy, Cerebral atrophy, Neurodegeneration	OMIM:610217
Acute Disseminated Encephalomyelitis	Interictal EEG abnormality, Hypointensity of cerebral white matter on MRI, Abnormal brainstem MRI...	ORPHA:83597
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Hypogonadism	ORPHA:79095
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral somatosensory ...	ORPHA:466768
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Decreased nerve conduction velocity	ORPHA:101097
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Decreased compound muscle action potential amplitude, Facial palsy, Elevated circulating creatine...	OMIM:603511
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Clitoral hypertr...	OMIM:214110
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Werner Syndrome	Abnormality of retinal pigmentation, Decreased fertility, Secondary amenorrhea, Ovarian neoplasm,...	ORPHA:902
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Streak ovary, Hypospadias, Abnormality of the kidney, Epispad...	ORPHA:1772
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Cerebral dysmyelination, Decreased nerve conduction velocity, Corpus callosum...	OMIM:261515
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy, Cerebral atrophy	OMIM:608804
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral...	OMIM:234200
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Brain atrophy	OMIM:614457
Marburg Hemorrhagic Fever	Shock, Renal insufficiency, Tachycardia, Pericarditis, Elevated circulating creatine kinase conce...	ORPHA:99826
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Primary adrenal in...	ORPHA:275761
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Flynn-Aird Syndrome	Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus	ORPHA:2047
Somatostatinoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:97283
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ab...	ORPHA:97278
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Optic atrophy, Agenesis of corpus callosum, Vaginal atresia	ORPHA:3301
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity	OMIM:607734
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Abnormal spinal cord morphology, Optic atrophy	ORPHA:99947
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Facial diplegia, Mildly elevated creatine kinase, Cardiomyop...	ORPHA:329478
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Neurodegeneration, Abnormal autonomic nervous system physiology, Cerebral atr...	OMIM:300894
Atypical Werner Syndrome	Fasting hyperinsulinemia, Retinal degeneration, Premature ovarian insufficiency, Abnormal circula...	ORPHA:79474
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of...	ORPHA:444072
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Sudden cardiac deat...	ORPHA:744
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hyponatremia, Hypertriglyceridemia, Epis...	ORPHA:167
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity	OMIM:180800
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Hypertension, Impotence, Abnormal autonomic nervous system physiol...	ORPHA:93256
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:99950
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Peripheral axonal degeneration, Cerebral atrophy, Neurodegeneration, Cerebral...	OMIM:615157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Secondary amenorrh...	OMIM:157640
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration	OMIM:250410
Vipoma	Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio...	ORPHA:97282
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor...	ORPHA:99953
Joubert Syndrome 7	Retinal dystrophy, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Abn...	OMIM:611560
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,...	ORPHA:293978
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:618325
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne...	ORPHA:97261
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Primary t...	ORPHA:85450
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Neoplasm of the gallbladder, Orthostatic hypo...	ORPHA:309271
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus ...	ORPHA:357058
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, C...	OMIM:307030
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:616688
Hurler Syndrome	Neurodegeneration, Retinal degeneration	OMIM:607014
Rh Deficiency Syndrome	Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Optic atrophy, Neurodegeneration, Mot...	OMIM:614298
Mogs-Cdg	Absent brainstem auditory responses, External genital hypoplasia, Optic atrophy, Hydrocele testis...	ORPHA:79330
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Cervical spinal cord at...	ORPHA:101085
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Dysplastic corpus callosum, B...	OMIM:617281
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98855
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia	ORPHA:444051
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309256
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Alkuraya-Kucinskas Syndrome	Small scrotum, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Lissenceph...	OMIM:617822
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Mildly elevated creatine kinase	ORPHA:600
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Decreased motor nerve conduction velocity, Microcephaly, Facial diplegia, Hyp...	OMIM:618186
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Hypospadias, Left-to-right shunt, Endometriosis, Dysplastic corp...	ORPHA:363444
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism, Microcephaly	OMIM:619950
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity	OMIM:607831
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:261
Distal Deletion 13Q	Primary adrenal insufficiency, Renal hypoplasia/aplasia	ORPHA:1590
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98853
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio...	ORPHA:247234
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Hypouricemia, Optic atrophy, Spinal cord posterior col...	ORPHA:1187
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
Mpdu1-Cdg	Undetectable visual evoked potentials, Optic atrophy	ORPHA:79323
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Ruvalcaba Syndrome	Abnormality of visual evoked potentials, Cryptorchidism, Hypopigmented skin patches	ORPHA:3121
X-Linked Cerebral Adrenoleukodystrophy	Decreased circulating cortisol level, Abnormal circulating fatty-acid concentration, Myelopathy, ...	ORPHA:139396
Graft Versus Host Disease	Tachycardia, Hyperbilirubinemia	ORPHA:39812
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Primary amenorrhea	ORPHA:502423
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309263
Hurler Syndrome	Angina pectoris, Cardiomyopathy, Hypertension, Abnormal nerve conduction velocity, Retinopathy	ORPHA:93473
Cohen Syndrome	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul...	OMIM:216550
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc...	ORPHA:54595
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Hypospadias, Microcephaly, Dysplastic corpus callosum, Absence of p...	ORPHA:314679
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,...	ORPHA:79430
Chediak-Higashi Syndrome	Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Ocular albinism,...	OMIM:214500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity	OMIM:118220
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy	OMIM:609242
Pontocerebellar Hypoplasia Type 7	Olivopontocerebellar hypoplasia, Abnormal scrotal rugation, Cryptorchidism, Microcephaly, Optic a...	ORPHA:284339
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Cockayne Syndrome Type 3	Optic disc pallor, Cerebral white matter atrophy, Retinal atrophy, Retinal dystrophy, Basal gangl...	ORPHA:90324
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity	OMIM:604563
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Abnormal cerebral white matter morphology, Optic atrophy	OMIM:250100
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Abno...	ORPHA:193
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Cryptorchid...	OMIM:151050
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Front...	ORPHA:100070
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Cerebellar atrophy, Abnormal fundus morphology, Cerebral atrophy, Macula...	ORPHA:94147
Vici Syndrome	Decreased circulating IgG level, Schizencephaly, Cerebellar vermis hypoplasia, Macular atrophy, E...	OMIM:242840
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration	ORPHA:803
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98863
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Spinocerebellar Ataxia 10	Cerebellar atrophy, Decreased nerve conduction velocity	OMIM:603516
Leigh Syndrome	Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, ...	ORPHA:506
Joubert Syndrome 1	Optic disc pallor, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Retinal dystrophy...	OMIM:213300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Decreased adipo...	ORPHA:280365
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy	OMIM:618321
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:145900
Glucagonoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:97280
Scheie Syndrome	Abnormal nerve conduction velocity, Aortic regurgitation	ORPHA:93474
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Hypotension, ...	ORPHA:100079
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Oligozoospermia, Telangiect...	ORPHA:125
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Retinitis, Microcephaly, Epispadias, Partial agenesis of the corpus...	OMIM:615948
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Primary amenorrhea	OMIM:617675
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
Peroxisome Biogenesis Disorder 4B	Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Adrenal insufficiency, Rod...	OMIM:614863
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Atrophy of the spinal cord, Decreased circulating apol...	OMIM:256840
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Optic nerve...	ORPHA:95494
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula...	OMIM:218700
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Adrenal insufficiency, Hypohidrosis	OMIM:615510
Senior-Loken Syndrome 8	Pancreatic cysts, Rod-cone dystrophy, Retinal dystrophy, Macular atrophy	OMIM:616307
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity, Syringomyelia	OMIM:616652
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity	OMIM:118200
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Microphthalmia, Syndromic 3	Optic nerve aplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterior pituitary hy...	OMIM:206900
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Abnormal cerebellum morphology, Cerebral white matter ...	OMIM:610532
Immunodeficiency, Common Variable, 10	Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ...	OMIM:615577
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Hypergonadotropic hypogonadism, Irregular menstr...	OMIM:203800
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Abnormal pyramidal tract morphology, Leukoencephalopathy...	ORPHA:83629
Aspartylglucosaminuria	Macroorchidism, Mitral regurgitation, Cerebral atrophy, Microcephaly	OMIM:208400
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Steatorrhea, ...	OMIM:269200
Chromosome 8Q21.11 Deletion Syndrome	Cryptorchidism, Micropenis, Pigmentary retinopathy	OMIM:614230
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Hypospadias, Brushfield spots, Cryptorchidism, Pigmentary retinopathy, Cerebra...	OMIM:214100
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity	OMIM:614895
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Neurodegeneration, Optic atrophy	OMIM:618476
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:192
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con...	ORPHA:580
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Absent septum pellucidum, Ovotestis, Junctional ectopic tachycardia, Microcephaly, H...	OMIM:309801
Wilson Disease	Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Decreased ne...	OMIM:277900
Bohring-Opitz Syndrome	Retinal atrophy, Microcephaly, Optic atrophy, Bradycardia, Hypoplasia of the corpus callosum, Cho...	ORPHA:97297
Nijmegen Breakage Syndrome	Premature ovarian insufficiency, Retinal pigment epithelial mottling, Progressive vitiligo, Neuro...	OMIM:251260
Friedreich Ataxia	Decreased motor nerve conduction velocity, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Cerv...	ORPHA:95
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,...	ORPHA:50
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Elevated circulating creatine kinase concentration, Premature ventricular contraction	OMIM:617072
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Bilateral cryptorchidism, Epispadias, Partial agenesis of...	ORPHA:434179
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Syringomyelia	ORPHA:477817
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude	OMIM:618279
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:201300
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum, Midl...	OMIM:617542
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Hypospadias, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic a...	OMIM:614866
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino...	ORPHA:485
Autoimmune Polyendocrinopathy Type 3	Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff...	ORPHA:227982
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Cerebral calcification, Abnormal retinal morphology, Elevated circulating creati...	ORPHA:2785
Poliomyelitis	Abnormal motor nerve conduction velocity, Hypertension, Hypovolemic shock, Hypotension, Myelitis	ORPHA:2912
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Ventricul...	ORPHA:254892
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Hypospadias, Chorioretinal dyspla...	ORPHA:2556
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Mucopolysaccharidosis Type 3	Optic atrophy, Central nervous system degeneration, Pigmentary retinopathy, Rod-cone dystrophy, R...	ORPHA:581
White-Sutton Syndrome	Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atr...	OMIM:616364
Zellweger Syndrome	Multicystic kidney dysplasia, Primary adrenal insufficiency, Hydronephrosis, Hypospadias	ORPHA:912
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Hypercalcemia, Focal white matter lesions, Hypocalcemia	ORPHA:557003
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Dysplastic corpus callosum, Thick ...	OMIM:300967
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:162400
Lesch-Nyhan Syndrome	Testicular atrophy, Hyperuricemia	OMIM:300322
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro...	ORPHA:273
Sarcoidosis	Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal hypertension, Abn...	ORPHA:797
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi...	ORPHA:2905
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Ethylmalonic Encephalopathy	Retinal vascular tortuosity, Abnormal brainstem MRI signal intensity, Abnormal basal ganglia MRI ...	ORPHA:51188
Melas	Peripheral axonal neuropathy, Hypogonadotropic hypogonadism, Optic atrophy, Pigmentary retinopath...	ORPHA:550
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Anterior pituitary hypoplasia, Su...	ORPHA:466791
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Conjunctival telangiectasia, Eleva...	OMIM:606002
Tatton-Brown-Rahman Syndrome	Mitral regurgitation, Tricuspid regurgitation, Neuroendocrine neoplasm, Supraventricular tachycar...	ORPHA:404443
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Multifocal Motor Neuropathy	Motor conduction block	ORPHA:641
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, Bile duct proliferation, Pu...	OMIM:208500
Autoimmune Polyendocrinopathy Type 4	Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu...	ORPHA:227990
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Hypoplasia of the corpus callosum, Decreased sensory nerve condu...	ORPHA:320375
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Centr...	ORPHA:488632
Multiple System Atrophy 1, Susceptibility To	Impotence, Neurodegeneration, Abnormal autonomic nervous system physiology, Orthostatic hypotension	OMIM:146500
Parkinson Disease 23, Autosomal Recessive Early-Onset	Neurofibrillary tangles, Abnormal autonomic nervous system physiology, Cerebral cortical atrophy	OMIM:616840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Elevated circulating creatine kinase concentration, Left bundle branch block, Ventric...	OMIM:610131
Combined Oxidative Phosphorylation Defect Type 7	Abnormal brainstem MRI signal intensity, Optic atrophy, Facial diplegia, Abnormal cerebral white ...	ORPHA:254930
Farber Disease	Macular degeneration, Cherry red spot of the macula, Brain atrophy	ORPHA:333
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit...	ORPHA:2239
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Precocious puberty, Cryptorch...	ORPHA:636
Ogden Syndrome	Global glomerulosclerosis, Maternal diabetes, Ventricular tachycardia, Premature ventricular cont...	OMIM:300855
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Facial palsy, Abnormal midbrain morphology, Abnormal brain...	ORPHA:68
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo...	OMIM:181270
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Abnormal gallbladder morphology, Neoplasm of the gallbladder...	ORPHA:512
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Neuronal loss in central nervous system, Cerebral cortical atrophy	OMIM:607485
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h...	ORPHA:231160
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora	OMIM:266270
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Anencephaly, Hypoplasia of the brainstem, Retinal coloboma, Hypopla...	OMIM:616546
Primary Ciliary Dyskinesia	Male infertility, Rod-cone dystrophy, Abnormal sperm motility, Female infertility	ORPHA:244
Superficial Siderosis	Cerebellar atrophy, Subarachnoid hemorrhage, Atrophy of the spinal cord, Atrophy/Degeneration aff...	ORPHA:247245
Fanconi Anemia, Complementation Group A	Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Microcephaly	OMIM:227650
Alzheimer Disease 3	Neurofibrillary tangles, Cerebral cortical atrophy	OMIM:607822
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Degcags Syndrome	Recurrent urinary tract infections, Tachycardia, Hypospadias, Bilateral renal dysplasia, Abnormal...	OMIM:619488
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Atrophy/Degeneration involving...	OMIM:607459
Aspartylglucosaminuria	Macroorchidism	ORPHA:93
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Abnormal putamen morphology, Abnormal brainstem MRI signal intensity, Abnorma...	ORPHA:88619
Alport Syndrome	Macular degeneration, Retinal flecks, Vomiting, Dysphagia, Clitoral hypertrophy	ORPHA:63
Trisomy 18	Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of retinal pigmenta...	ORPHA:3380
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Tetrasomy 9P	Absent gallbladder, Pericarditis, Abnormal chorioretinal morphology, Raynaud phenomenon, Cryptorc...	ORPHA:3310
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Friedreich Ataxia 2	Abnormal EKG, Abnormal medulla oblongata morphology, Abnormality of the dorsal column of the spin...	OMIM:601992
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Knobloch Syndrome	Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology	ORPHA:1571
Autosomal Dominant Spastic Paraplegia Type 36	Abnormal brainstem MRI signal intensity	ORPHA:320365
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Hyperammonemia, Intracranial hemorrhage, Adrenal insufficienc...	ORPHA:90062
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Microcephaly, Abnormal pituitary gland morphology, Congenital stati...	ORPHA:314621
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy	ORPHA:101076
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:99889
Gm2-Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	OMIM:272750
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Alzheimer Disease 4	Neurofibrillary tangles, Senile plaques	OMIM:606889
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus callosum, Leukoencephalop...	OMIM:614924
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cerebral cortical atrophy	OMIM:277400
Hereditary Sensory And Autonomic Neuropathy Type 1	Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials	ORPHA:36386
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Elevated circulating C-reactive protein conce...	OMIM:619423
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Dysplastic corpus callosum, Optic atrophy, Abnormal cer...	OMIM:617140
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Hypoplasia of the thymus, Pul...	ORPHA:3384
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Early-Onset Autosomal Dominant Alzheimer Disease	Neurofibrillary tangles, Cerebral cortical atrophy	ORPHA:1020
Neurodegeneration With Brain Iron Accumulation 3	Neurodegeneration	OMIM:606159
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Ocular albinism, Abnormal brainstem morphology	ORPHA:2720
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ...	ORPHA:404454
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Telangiectasia of the skin, Decreased response to growth hormone s...	OMIM:616007
Cystinosis, Nephropathic	Male infertility, Hyponatremia, Diabetes mellitus, Cerebral calcification, Retinal pigment epithe...	OMIM:219800
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles	OMIM:606688
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude	OMIM:620080
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Decreased motor nerve conduction velocity, Optic atrophy, Abnormal optic nerv...	ORPHA:99949
Niemann-Pick Disease, Type C1	Neurofibrillary tangles, Neuronal loss in central nervous system	OMIM:257220
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Absent gallbladder, Transient ischemic attack, Optic nerve hypop...	ORPHA:500150
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Abnormal basal ganglia MRI signal intensity, Abnormal brainstem M...	ORPHA:444013
Arnold-Chiari Malformation Type I	Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of...	ORPHA:268882
Primary Sjögren Syndrome	Abnormality of the peripheral nervous system, Raynaud phenomenon, Abnormal cerebellum morphology,...	ORPHA:289390
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Abnormal brainstem MRI signal intensity, Cardiomyopathy, Pontocerebellar atrophy, R...	ORPHA:258
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Macular atrophy, Microcephaly, Primary amenorrhea, Hypoplasia of the corpus...	OMIM:619418
Mosaic Trisomy 20	Cryptorchidism, Abnormal spinal cord morphology	ORPHA:1724
Tick-Borne Encephalitis	Abnormal medulla oblongata morphology, Facial palsy, Elevated circulating C-reactive protein conc...	ORPHA:297
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/rem...	ORPHA:255210
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Retinal dy...	OMIM:243910
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Abnormal autonomic nervous s...	OMIM:614575
Gerstmann-Straussler Disease	Cerebellar atrophy, Neurofibrillary tangles	OMIM:137440
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration	OMIM:615919
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:363958
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Cardiac-Urogenital Syndrome	Tachycardia, Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarged kidney	OMIM:618280
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity	OMIM:613640
Witteveen-Kolk Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph...	OMIM:613406
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Retinal dystrophy, Microcephaly, Pancreatic cysts, Macular degeneration, Hypertension, Hypoplasia...	OMIM:266920
Supranuclear Palsy, Progressive, 1	Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degeneration, Senile plaques, Neuronal...	OMIM:601104
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Hypermobile Ehlers-Danlos Syndrome	Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Cystocele, Decreased fer...	ORPHA:285
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity	ORPHA:90658
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	ORPHA:220386
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	ORPHA:93924
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of visual ...	OMIM:203700
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Plague	Hematemesis, Tachycardia, Arrhythmia, Hypotension	ORPHA:707
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
White-Kernohan Syndrome	Dysplastic corpus callosum, Rectovaginal fistula, Hypothyroidism	OMIM:619426
Mucopolysaccharidosis, Type Vii	Neurodegeneration	OMIM:253220
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypothyroidism, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Hypospadias, Neurofibroma, Melanocytic nevus, Abnormality of skin pigmentation, Ne...	OMIM:619475
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Microphthalmia, Syndromic 2	Hypospadias, Adrenal insufficiency, Pulmonic stenosis, Aortic valve stenosis, Hypothyroidism	OMIM:300166
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Supranuclear Palsy, Progressive, 2	Neurofibrillary tangles, Neuronal loss in central nervous system, Granulovacuolar degeneration	OMIM:609454
Ciliary Dyskinesia, Primary, 1	Male infertility, Absent outer dynein arms	OMIM:244400
Autosomal Recessive Malignant Osteopetrosis	Abnormality of visual evoked potentials, Optic nerve compression	ORPHA:667
Legius Syndrome	Paroxysmal atrial tachycardia, Nephrolithiasis, Xanthelasma, Male urethral meatus stenosis, Pulmo...	ORPHA:137605
Pallister-Hall Syndrome	Renal dysplasia, Hypospadias, Adrenal hypoplasia, Ectopic kidney, Precocious puberty, Unilateral ...	ORPHA:672
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Adult-Onset Dystonia-Parkinsonism	Frontotemporal cerebral atrophy, Neurofibrillary tangles, Generalized cerebral atrophy/hypoplasia	ORPHA:199351
Leukoencephalopathy With Ataxia	Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy	OMIM:615651
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential	OMIM:606071
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Decreased sensory nerve conduction velocity, Elevated circulating alpha-fetoprot...	OMIM:615273
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Optic atrophy	ORPHA:99956
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia, Absent mesencephalon, Cerebellar ...	OMIM:601374
Noonan Syndrome 1	Male infertility, Hypospadias, Cryptorchidism, Hypogonadism, Pulmonic stenosis, Hypertrophic card...	OMIM:163950
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, EEG abnormality, Abnormality of the auto...	ORPHA:79138
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Aplasia of the sweat glands, Syncope, Abnor...	ORPHA:642
Niemann-Pick Disease, Type C2	Neurofibrillary tangles	OMIM:607625
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles	OMIM:117300
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Orofaciodigital Syndrome Type 4	Renal agenesis, Primary adrenal insufficiency, Renal hypoplasia/aplasia	ORPHA:2753
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail...	ORPHA:99125
Paget Disease Of Bone 2, Early-Onset	Brain stem compression, Hypercalcemia	OMIM:602080
Choreoacanthocytosis	Caudate atrophy, Elevated circulating creatine kinase concentration, Abnormal putamen morphology,...	ORPHA:2388
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Wide penis, Op...	ORPHA:3455
Achondroplasia	Brain stem compression, Megalencephaly	OMIM:100800
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction	OMIM:602535
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension	OMIM:606721
Listeriosis	Pericarditis, Abnormal brainstem MRI signal intensity, Myocarditis, Congestive heart failure, Art...	ORPHA:533
Primrose Syndrome	Bilateral cryptorchidism, Cryptorchidism, Hypergonadotropic hypogonadism, Neurodegeneration	OMIM:259050
Osteogenesis Imperfecta	Aortic regurgitation, Brain stem compression, Syringomyelia, Cerebral hemorrhage	ORPHA:666
Cystic Fibrosis	Male infertility	OMIM:219700
Limb Body Wall Complex	Abnormal spinal cord morphology, Spina bifida occulta, Anencephaly, 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us