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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Decreased distal sensory nerve action potential |
OMIM:606071 |
Congenital Disorder Of Deglycosylation 1 |
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Hyperalaninemia, Decreased sensory nerve conduction velocity, Elevated circulating alpha-fetoprot... |
OMIM:615273 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Decreased distal sensory nerve action potential, Optic atrophy |
ORPHA:99956 |
Aprosencephaly And Cerebellar Dysgenesis |
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Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia, Absent mesencephalon, Cerebellar ... |
OMIM:601374 |
Noonan Syndrome 1 |
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Male infertility, Hypospadias, Cryptorchidism, Hypogonadism, Pulmonic stenosis, Hypertrophic card... |
OMIM:163950 |
Bickerstaff Brainstem Encephalitis |
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Decreased motor nerve conduction velocity, Facial palsy, EEG abnormality, Abnormality of the auto... |
ORPHA:79138 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Orthostatic hypotension due to autonomic dysfunction, Aplasia of the sweat glands, Syncope, Abnor... |
ORPHA:642 |
Niemann-Pick Disease, Type C2 |
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Neurofibrillary tangles |
OMIM:607625 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
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Neurofibrillary tangles |
OMIM:117300 |
Alagille Syndrome 1 |
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Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:118450 |
Orofaciodigital Syndrome Type 4 |
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Renal agenesis, Primary adrenal insufficiency, Renal hypoplasia/aplasia |
ORPHA:2753 |
Congenital Total Pulmonary Venous Return Anomaly |
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Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
Paget Disease Of Bone 2, Early-Onset |
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Brain stem compression, Hypercalcemia |
OMIM:602080 |
Choreoacanthocytosis |
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Caudate atrophy, Elevated circulating creatine kinase concentration, Abnormal putamen morphology,... |
ORPHA:2388 |
Wiedemann-Rautenstrauch Syndrome |
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Optic disc hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Wide penis, Op... |
ORPHA:3455 |
Achondroplasia |
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Brain stem compression, Megalencephaly |
OMIM:100800 |
Marshall-Smith Syndrome |
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Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction |
OMIM:602535 |
Hardikar Syndrome |
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Pigmentary retinopathy |
OMIM:301068 |
Lipodystrophy, Familial Partial, Type 7 |
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Pigmentary retinopathy, Orthostatic hypotension |
OMIM:606721 |
Listeriosis |
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Pericarditis, Abnormal brainstem MRI signal intensity, Myocarditis, Congestive heart failure, Art... |
ORPHA:533 |
Primrose Syndrome |
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Bilateral cryptorchidism, Cryptorchidism, Hypergonadotropic hypogonadism, Neurodegeneration |
OMIM:259050 |
Osteogenesis Imperfecta |
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Aortic regurgitation, Brain stem compression, Syringomyelia, Cerebral hemorrhage |
ORPHA:666 |
Cystic Fibrosis |
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Male infertility |
OMIM:219700 |
Limb Body Wall Complex |
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Abnormal spinal cord morphology, Spina bifida occulta, Anencephaly, Spina bifida |
ORPHA:2369 |
Juvenile Myoclonic Epilepsy |
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EEG with polyspike wave complexes |
ORPHA:307 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
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OMIM:607628 |