| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Cataract |
ORPHA:254704 |
| Bardet-Biedl Syndrome 11 |
|
Obesity, Retinopathy, Hypogonadism |
OMIM:615988 |
| Bardet-Biedl Syndrome 12 |
|
Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:615989 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, External genital hypoplasia, Rod-cone dystrophy, Micropenis, Hypogonadism, Obe... |
OMIM:615983 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Retinal dystrophy, Truncal obesity, Micropenis |
OMIM:610156 |
| Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Rod-cone dystrophy, Retinal degeneration, Hypogonadism, Obesity |
OMIM:615993 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Bardet-Biedl Syndrome 10 |
|
Obesity, Retinal dystrophy, Rod-cone dystrophy, Hypogonadism |
OMIM:615987 |
| Bardet-Biedl Syndrome 22 |
|
Rod-cone dystrophy, Large for gestational age, Polyphagia, Macular hypopigmentation, Hypogonadism... |
OMIM:617119 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Retinal degeneration, Small for gestational age, Decreased response to growt... |
OMIM:275400 |
| Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... |
OMIM:615990 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Cry... |
OMIM:615982 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
| Bardet-Biedl Syndrome 14 |
|
Obesity, Rod-cone dystrophy |
OMIM:615991 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... |
ORPHA:529808 |
| Morm Syndrome |
|
Retinal dystrophy, Retinal atrophy, Truncal obesity, Micropenis |
ORPHA:75858 |
| Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
| Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract |
OMIM:600886 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism |
OMIM:601794 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Irregular menstruation, Attenuation of reti... |
OMIM:615986 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Leptin Deficiency Or Dysfunction |
|
Micropenis, Primary amenorrhea, Abnormal eating behavior, Polyphagia, Decreased testicular size, ... |
OMIM:614962 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Micropenis, Hypogonadism, Obesity, Cryptorchidism |
ORPHA:85274 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, External genital hypoplasia, Rod-cone dystrophy |
OMIM:268010 |
| Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Rod-cone dystrophy, Retinal degeneration, Hypogonadism, Obesity |
OMIM:615981 |
| Central Precocious Puberty |
|
Hydrocephalus, Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Overgro... |
ORPHA:759 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
| Bardet-Biedl Syndrome 19 |
|
Obesity, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism |
OMIM:615996 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Obesity, Azoospermia |
OMIM:615703 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Retinal degeneration |
OMIM:225755 |
| Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Micropenis, Ven... |
OMIM:300148 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus, Obesity |
ORPHA:2183 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... |
OMIM:614963 |
| Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Temple Syndrome |
|
Hydrocephalus, Precocious puberty, Decreased response to growth hormone stimulation test, Small f... |
ORPHA:254516 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
| Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
| Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:603649 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
| Trisomy 5P |
|
Obesity, Hypoplasia of penis, Ventriculomegaly |
ORPHA:1742 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
| Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size |
ORPHA:98797 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Obesity |
ORPHA:141333 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism |
OMIM:309585 |
| Spondylometaphyseal Dysplasia, Axial |
|
Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility, Cone/cone-rod dystrophy, Optic ... |
OMIM:602271 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration, Dysphagia, Obesity, Agenesis of corpus callosum |
OMIM:604360 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Stargardt Disease 3 |
|
Macular dystrophy, Macular flecks, Macular atrophy |
OMIM:600110 |
| Bardet-Biedl Syndrome 7 |
|
Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:615984 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
| Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum, Macular degeneration |
ORPHA:85334 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, Obesity, External genital hypoplasia |
ORPHA:177910 |
| Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Decreased testicular size, Hypogonadism, Cryptorchidism, Prem... |
ORPHA:261483 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Ventriculomegaly, Macular hypoplasia, Colpocephaly |
ORPHA:2185 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, External genital hypoplasi... |
ORPHA:398079 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Childhood-onset truncal... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Childhood-onset truncal... |
ORPHA:71526 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Hydrocephalus, Polyphagia |
OMIM:616521 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Hypogonadism, Obesity, Cryptor... |
ORPHA:363741 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... |
OMIM:616188 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Irregular menstruation |
OMIM:144800 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... |
ORPHA:791 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:615985 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Hyperauto... |
OMIM:617406 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Obesity |
OMIM:614947 |
| Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
| Carcinoma Of Esophagus |
|
Dysphagia, Obesity, Weight loss |
ORPHA:70482 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy, Truncal obesity, Hypogonadism |
OMIM:268050 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity |
OMIM:618160 |
| Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Micropenis, Macular atrophy, Cone/cone-rod ... |
OMIM:615994 |
| Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Primary amenorrhea, Optic disc pallor... |
OMIM:619737 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Elevated circulating thyroid-stimulating hormone concentration |
ORPHA:171706 |
| Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Macular degeneration |
OMIM:204200 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
| Craniopharyngioma |
|
Hydrocephalus, Enlarged pituitary gland, Abnormal hypothalamus morphology, Papilledema, Hypogonad... |
ORPHA:54595 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Overgrowth, Polyphagia, Ventriculomegaly, Polycystic ovaries, Obesity |
OMIM:616831 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Secondary amenorrhea, Decrea... |
ORPHA:3085 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... |
ORPHA:3008 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Macular degeneration |
OMIM:256730 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Agenesis of corpus callosum, Macular degeneration |
OMIM:612948 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration |
OMIM:300438 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity, Polyphagia |
OMIM:248100 |
| Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Po... |
OMIM:609734 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity, Retinal dystrophy |
OMIM:616756 |
| 48,Xxyy Syndrome |
|
Infertility, Hypoplasia of penis, Tall stature, Hypergonadotropic hypogonadism, Ventriculomegaly,... |
ORPHA:10 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Tall stature, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
| Temple Syndrome |
|
Hydrocephalus, Small for gestational age, Truncal obesity, Decreased testicular size, Cryptorchid... |
OMIM:616222 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity |
OMIM:616629 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Obesity, External genital hypoplasia, Rod-cone dystrophy |
OMIM:600151 |
| Mucolipidosis Iv |
|
Optic atrophy, Dysplastic corpus callosum, Retinal degeneration |
OMIM:252650 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea, Obesity |
OMIM:604931 |
| 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 |
| Cardiomyopathy, Dilated, 1Ii |
|
Elevated circulating creatine kinase concentration, Cataract |
OMIM:615184 |
| Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Hydrocephalus, Ventriculomegaly, Retinal degeneration |
OMIM:615630 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, External genital hypoplasi... |
ORPHA:398069 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Polyphagia |
ORPHA:71529 |
| Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
| Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Polyphagia, Abnormal autonomic nervous system physiology, Postural hypotension with comp... |
ORPHA:369873 |
| Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity, Chorioretinal atrophy, Choroideremia, Chorioretinal degeneration |
OMIM:303110 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... |
ORPHA:66628 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Rod-cone dystrophy, Reduced circulating prolactin concentration, Hypogon... |
ORPHA:2235 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... |
ORPHA:179494 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Retinal degeneration, Orthostatic hypotension, Lateral ventricle dilatation, Dysphagia, Obesity, ... |
ORPHA:2822 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism |
ORPHA:2233 |
| X-Linked Acrogigantism |
|
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... |
ORPHA:300373 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... |
ORPHA:98754 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Ventriculomegaly |
ORPHA:521390 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia |
ORPHA:329249 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... |
ORPHA:98793 |
| Mehmo Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Micropenis, Obesity, Cryptorchidism |
ORPHA:85282 |
| Poretti-Boltshauser Syndrome |
|
Retinal thinning, Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
| 47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Hydrocephalus, Congenital stationary night blindness, T... |
ORPHA:8 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... |
ORPHA:177904 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Schaaf-Yang Syndrome |
|
Micropenis, Polyphagia, Hypogonadism, Obesity, Cryptorchidism, Failure to thrive in infancy |
OMIM:615547 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... |
ORPHA:177901 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Cryptorchidism, Micropenis, Hypoplasia of the prostate |
OMIM:301900 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... |
OMIM:606407 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia |
ORPHA:682 |
| Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
| Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
| Huntington Disease |
|
Decreased body mass index, Polyphagia, Abnormal libido, Weight loss, Choking episodes, Oral-phary... |
ORPHA:399 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity, Precocious puberty |
ORPHA:217377 |
| Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy, Vaginal atr... |
OMIM:605231 |
| Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Cryptorchidism, Rod-cone dystrophy |
OMIM:615633 |
| Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Eunuchoid habitus, Decreased testicular size, Hypogonadism, Obesity, Small s... |
ORPHA:2234 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Hypoplasia of penis, Truncal obesity, Hypogonadism |
ORPHA:181393 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... |
ORPHA:52901 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
| Prader-Willi-Like Syndrome |
|
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... |
ORPHA:398073 |
| Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity |
ORPHA:3459 |
| Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Obesity, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Obesity, Failure to thrive in infancy |
OMIM:613670 |
| Cornelia De Lange Syndrome 5 |
|
Micropenis, Truncal obesity, Ventriculomegaly, Decreased testicular size, Hypogonadism, Cryptorch... |
OMIM:300882 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Increased body mass index, Truncal obesity, Ventriculomegaly, Cryptorc... |
OMIM:300957 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Micropenis, Hypospadias, Obesity, Cryptorchidism |
ORPHA:171839 |
| Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Decreased nerve conduction velocity, Premature ovarian insufficiency |
ORPHA:2928 |
| Prader-Willi Syndrome |
|
Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, External genital hypoplasi... |
ORPHA:739 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Premature ovarian insufficiency |
OMIM:618124 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
| Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Cach Syndrome |
|
Optic neuritis, Primary amenorrhea, Gonadal dysgenesis, T2 hypointense thalamus, Optic atrophy, L... |
ORPHA:135 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Micropenis, Hypospadias, Ventriculomegaly, Decreased testicular size, Hypogona... |
OMIM:300354 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
| Alg6-Cdg |
|
Failure to thrive, Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia |
ORPHA:171829 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Obesity, Dilated third ventricle, Optic nerve dysplasia |
OMIM:617296 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Hypoplasia of penis, Optic nerve hypoplasia, Septo-optic dysplasia, Obesity, Cryptorc... |
ORPHA:3157 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Increased circulating gonadotropin level, Small for gestational age, Decreased... |
OMIM:300869 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Polyphagia |
ORPHA:411515 |
| Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... |
OMIM:608161 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysphagia, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
| Prader-Willi Syndrome |
|
Abdominal obesity, Infertility, Precocious puberty, External genital hypoplasia, Decreased respon... |
OMIM:176270 |
| Malan Overgrowth Syndrome |
|
Tall stature, Lateral ventricle dilatation, Optic disc pallor, Ventriculomegaly, Optic disc hypop... |
ORPHA:420179 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum, Retinal degeneration |
OMIM:615249 |
| Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion, Retinal degeneration, Pigmentary retinopathy, Optic disc p... |
ORPHA:79264 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Large for gestational age, Polyphagia, Small for gestational age |
ORPHA:324575 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Failure to thrive, Hydrocephalus, Retinal detachment, Optic atrophy, Ventriculomegaly, Colpocephaly |
OMIM:619833 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular size, Obesity... |
OMIM:610628 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Hyperuricemia |
OMIM:613845 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital stationary night blindness |
ORPHA:352530 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic disc hypoplasia |
OMIM:619955 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cryptorchidism, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:249270 |
| Aniridia 2 |
|
Iris coloboma, Lens subluxation, Cataract, Aniridia |
OMIM:617141 |
| Wagr Syndrome |
|
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Dilated fourth ventricle, Optic atrophy, Lateral ventricle dilatation,... |
ORPHA:3078 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Chung-Jansen Syndrome |
|
Obesity, Cryptorchidism |
OMIM:617991 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
| Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
| Gangliocytoma |
|
Amenorrhea, Abnormality of the pituitary gland, Pituitary null cell adenoma, Impotence, Abnormal ... |
ORPHA:251937 |
| Bardet-Biedl Syndrome 1 |
|
Abdominal obesity, Retinal degeneration, Bone spicule pigmentation of the retina, Micropenis, Rod... |
OMIM:209900 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Optic atrophy, Ventriculomegaly, Macular hypoplasia, Colpocephaly |
OMIM:615219 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... |
ORPHA:100924 |
| Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Hyponatremia, Mydriasis |
ORPHA:178478 |
| Laurence-Moon Syndrome |
|
Displacement of the urethral meatus, Cryptorchidism, Obesity, Hypoplasia of penis |
ORPHA:2377 |
| Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Disproportionate tall statu... |
OMIM:615300 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Polyphagia |
ORPHA:276556 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of penis, Pigmentary retinopathy, Hypogonadism, Obesity, Cryp... |
ORPHA:110 |
| Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Micropenis |
OMIM:300209 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract |
OMIM:601547 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
| Alg8-Cdg |
|
Cataract, Hyponatremia |
ORPHA:79325 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Polyphagia |
ORPHA:276575 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity, Macroorchidism |
OMIM:300238 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Polyphagia |
ORPHA:276580 |
| Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Weight loss, Polyphagia |
OMIM:275000 |
| Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Male pseudohermaphroditism, Obesity, Chorioretinal coloboma |
OMIM:600122 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Obesity |
OMIM:614651 |
| Spinocerebellar Ataxia Type 32 |
|
