| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| 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 |
| 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 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Bardet-Biedl Syndrome 11 |
|
Retinopathy, Obesity, Hypogonadism |
OMIM:615988 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
| Bardet-Biedl Syndrome 5 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Macular dystrophy, Obesity, Microp... |
OMIM:615983 |
| Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
| Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity, Hypogonadism |
OMIM:615987 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Bardet-Biedl Syndrome 22 |
|
Rod-cone dystrophy, Hypogonadism, Large for gestational age, Macular hypopigmentation, Polyphagia... |
OMIM:617119 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Retinal degener... |
OMIM:275400 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Obesity |
OMIM:615993 |
| Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Bardet-Biedl Syndrome 13 |
|
Rod-cone dystrophy, Obesity, Bone spicule pigmentation of the retina, Attenuation of retinal bloo... |
OMIM:615990 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
| Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Cryptorchidi... |
OMIM:615982 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus, Decreased HDL cholesterol concentration |
OMIM:618463 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
| Hyperferritinemia With Or Without Cataract |
|
Pulverulent cataract, Increased circulating ferritin concentration, Nuclear cataract |
OMIM:600886 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... |
ORPHA:529799 |
| Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Truncal obesity, Micropenis |
ORPHA:75858 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Cataract |
OMIM:618660 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Hypogonadism, Hydrocephalus, Cryptorchidism, Obesity, Retinal coloboma |
OMIM:601794 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of th... |
OMIM:615986 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615995 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis |
ORPHA:85274 |
| Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
| Retinitis Pigmentosa Inversa With Deafness |
|
External genital hypoplasia, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
| Central Precocious Puberty |
|
Isosexual precocious puberty, Premature thelarche, Hydrocephalus, Obesity, Increased circulating ... |
ORPHA:759 |
| Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Obesity |
OMIM:615981 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Polyphagia, Primary amenorrhea, Obesity, Micropenis |
OMIM:614962 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Obesity, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Obesity, Azoospermia |
OMIM:615703 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Small for gestational ag... |
OMIM:300148 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Polyphag... |
OMIM:614963 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Cataract, Increased circulating ferritin concentration, Elevat... |
ORPHA:254704 |
| Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
| Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
| Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
| Trisomy 5P |
|
Obesity, Hypoplasia of penis, Ventriculomegaly |
ORPHA:1742 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
| Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... |
OMIM:615751 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Ventriculomegaly |
OMIM:300209 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration, Dysphagia, Obesity, Agenesis of corpus callosum |
OMIM:604360 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypospadias, Hypogonadotropic hypogonadism, Obesity |
ORPHA:141333 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Reduced sperm m... |
OMIM:602271 |
| Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism |
OMIM:309585 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
| Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Macular dystrophy |
OMIM:600110 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
| Bardet-Biedl Syndrome 7 |
|
Rod-cone dystrophy, Obesity, Hypogonadism |
OMIM:615984 |
| Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
| Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
| Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Agenesis of corpus callosum |
ORPHA:85334 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Childhood-onset truncal obesity, Micropenis, Truncal obesity |
OMIM:610156 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Hypogonadotropic hypogonadism, Obesity, Polyphagia |
ORPHA:177910 |
| Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Premature ovarian insufficiency, Decreased testicular size, Failure to thrive, Trun... |
ORPHA:261483 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration, Agitation, Restlessness, Abnormal mitochondrial morphology |
OMIM:300438 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, Gonadotro... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, Gonadotro... |
ORPHA:71526 |
| Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Primary amenorrhea, Precocious puberty, Ventriculomegaly, Hypogonadism, External genital hypoplas... |
ORPHA:398079 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Increased circulating prolactin concentration, Obesity |
OMIM:144800 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss, Dysphagia |
ORPHA:70482 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Hydrocephalus |
OMIM:616521 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Nephronophthisis 15 |
|
Retinal degeneration, Obesity |
OMIM:614845 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Cryptorchidism, Obesity, Retinal c... |
ORPHA:363741 |
| Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
| Retinitis Pigmentosa |
|
Optic atrophy, Hypogonadism, Abnormal testis morphology, Hypoplasia of penis, Abnormality of reti... |
ORPHA:791 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Bardet-Biedl Syndrome 8 |
|
Rod-cone dystrophy, Hypospadias, Obesity, Hypogonadism |
OMIM:615985 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
| Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... |
OMIM:617406 |
| Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Decreased body weight, Lateral ventricle dilatation |
OMIM:619420 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Attention deficit... |
ORPHA:3000 |
| Bardet-Biedl Syndrome 19 |
|
External genital hypoplasia, Rod-cone dystrophy, Obesity, Hypogonadism |
OMIM:615996 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Retrobulbar optic neuritis, Hypergonadotropic hypogonadism, Dysplastic corpus ... |
OMIM:619737 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity, Cryptorchidism |
ORPHA:3055 |
| Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Retinal degeneration, Optic atrophy |
OMIM:614322 |
| 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 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Bardet-Biedl Syndrome 17 |
|
Rod-cone dystrophy, Hypogonadism, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy,... |
OMIM:615994 |
| Laurence-Moon Syndrome |
|
Chorioretinal atrophy, Micropenis, Obesity, Small scrotum, Pigmentary retinopathy |
OMIM:245800 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| 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 |
| Lissencephaly 4 |
|
Agenesis of corpus callosum, Colpocephaly |
OMIM:614019 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration, Agenesis of corpus callosum |
OMIM:612948 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Optic atrophy |
OMIM:204200 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Optic atrophy, Macular hypoplasia, Hydrocephalus, Colpocephaly |
ORPHA:2185 |
| 48,Xxyy Syndrome |
|
Ventriculomegaly, Decreased testicular size, Infertility, Hypoplasia of penis, Azoospermia, Atten... |
ORPHA:10 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Ventriculomegaly, Overgrowth, Polycystic ovaries, Polyphagia, Obesity |
OMIM:616831 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Optic atro... |
ORPHA:54595 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Decreased testicular size, Abnormality of retinal pigmentation, Polycystic ... |
ORPHA:3085 |
| 47,Xyy Syndrome |
|
Macroorchidism, Hyperactivity, Hydrocephalus, Azoospermia, Oligospermia, Hypospadias, Male infert... |
ORPHA:8 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... |
ORPHA:3008 |
| Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Retinal degeneration, Macular degeneration, Optic atrophy |
OMIM:256730 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Retinal dystrophy, Obesity |
OMIM:616756 |
| Mehmo Syndrome |
|
External genital hypoplasia, Hypoplasia of penis, Agitation, Cryptorchidism, Obesity, Micropenis |
ORPHA:85282 |
| Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
| Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
| Bardet-Biedl Syndrome 3 |
|
External genital hypoplasia, Rod-cone dystrophy, Obesity, Pigmentary retinopathy |
OMIM:600151 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Obesity, Oligomenorrhea |
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 |
| Obesity Due To Sim1 Deficiency |
|
Abnormal autonomic nervous system physiology, Polyphagia, Attention deficit hyperactivity disorde... |
ORPHA:369873 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Primary amenorrhea, Precocious puberty, Ventriculomegaly, Hypogonadism, External genital hypoplas... |
ORPHA:398069 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity, Polyphagia |
ORPHA:71529 |
| Mucolipidosis Iv |
|
Retinal degeneration, Dysplastic corpus callosum, Optic atrophy |
OMIM:252650 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
| Huntington Disease |
|
Weight loss, Choking episodes, Alcoholism, Agitation, Polyphagia, Abnormal libido, Disinhibition,... |
ORPHA:399 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Obesity, Retinal degeneration, Ventriculomegaly |
OMIM:615630 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Senior-Loken Syndrome 9 |
|
Rod-cone dystrophy, Hypogonadism, Macular degeneration, Retinal dystrophy, Obesity |
OMIM:616629 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Agenesis of corpus callosum, Colpocephaly |
ORPHA:250972 |
| Chromosome Xq21 Deletion Syndrome |
|
Chorioretinal degeneration, Obesity, Chorioretinal atrophy, Choroideremia |
OMIM:303110 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Decreased testicular size, Hypoplasia of th... |
ORPHA:66628 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
| Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
| Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Temple Syndrome |
|
Precocious puberty, Decreased testicular size, Small for gestational age, Hydrocephalus, Truncal ... |
OMIM:616222 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Decreased testicular size, Hypoplasia of th... |
ORPHA:179494 |
| Schaaf-Yang Syndrome |
|
Hypogonadism, Impulsivity, Polyphagia, Cryptorchidism, Obesity, Failure to thrive in infancy, Mic... |
OMIM:615547 |
| Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Ventriculomegaly |
ORPHA:521390 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Increased body mass inde... |
ORPHA:300373 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Primary amenorrhea, Precocious puberty, Decreased response to growth hormone stimulation test, Ve... |
ORPHA:98754 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Rod-cone dystrophy, Anterior hypopituitarism, Reduced circulating prolactin ... |
ORPHA:2235 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Obesity, Failure to thrive in infancy, Attention deficit hyperactivity disorder |
OMIM:613670 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Obesity, Hypogonadism, Abnormal testis morphology |
ORPHA:2233 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Failure to thrive, Polyphagia, Hypergonado... |
OMIM:606407 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
| Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation, Hypothalamic atrophy, Retinal degeneration, Overweight, Dysphagia, ... |
ORPHA:2822 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
| Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Elevated circulating follicle stimul... |
OMIM:620103 |
| Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Dilated fourth ventricle, Retinal dystrophy, Retinal thinning |
OMIM:615960 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Primary amenorrhea, Precocious puberty, Decreased response to growth hormone stimulation test, Ve... |
ORPHA:98793 |
| Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
| Achromatopsia |
|
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Primary amenorrhea, Precocious puberty, Decreased response to growth hormone stimulation test, Ve... |
ORPHA:177904 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Bulimia, Obesity, Overweight, Optic atrophy |
OMIM:614651 |
| Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Micropenis, Obesity, Hypoplasia of the prostate, Cryptorchidism |
OMIM:301900 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly |
OMIM:614870 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Primary amenorrhea, Precocious puberty, Decreased response to growth hormone stimulation test, Ve... |
ORPHA:177901 |
| Bardet-Biedl Syndrome 6 |
|
Rod-cone dystrophy, External genital hypoplasia, Vaginal atresia, Hypospadias, Obesity, Pigmentar... |
OMIM:605231 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
OMIM:267760 |
| Congenital Isolated Acth Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:199296 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Rod-cone dystrophy, Obesity, Cryptorchidism |
OMIM:615633 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia |
ORPHA:329249 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Premature ovarian insufficiency, Lateral ventricle dilatation |
OMIM:615889 |
| Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
| Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
| Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Optic nerve dysplasia, Dilated third ventricle, Lateral ventricle dilatation, Partial agenesis of... |
OMIM:617296 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Ventriculomegaly, Hypogonadism, Decreased testicular size, Hypospadias, Cryptorchi... |
OMIM:300354 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Restlessness, Later... |
OMIM:619517 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Prader-Willi-Like Syndrome |
|
Primary amenorrhea, Precocious puberty, Decreased response to growth hormone stimulation test, Ve... |
ORPHA:398073 |
| Cach Syndrome |
|
Lateral ventricle dilatation, Secondary amenorrhea, Premature ovarian insufficiency, Optic atroph... |
ORPHA:135 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Hypogonadism, Decreased testicular size, Hypoplasia of penis, Eunuchoid habi... |
ORPHA:2234 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Hypoplasia of penis, Hypogonadism, Truncal obesity |
ORPHA:181393 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Polyphagia |
ORPHA:411515 |
| Prader-Willi Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Ventriculomegaly, Hypo... |
ORPHA:739 |
| Chung-Jansen Syndrome |
|
Impulsivity, Obesity, Attention deficit hyperactivity disorder, Cryptorchidism |
OMIM:617991 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Cornelia De Lange Syndrome 5 |
|
Ventriculomegaly, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity, Micro... |
OMIM:300882 |
| Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:171876 |
| Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
| Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Cryptorchidism |
OMIM:616816 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Ventriculomegaly, Microphallus, Small for gestational age, Cryptorchid... |
OMIM:300957 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Hypospadias, Cryptorchidism, Obesity, Micropenis |
ORPHA:171839 |
| Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Septo-optic dysplasia, Hypoplasia of penis, Optic nerve hypoplasia... |
ORPHA:3157 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Polyphagia, Large for gestational age, Agitation |
ORPHA:324575 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia |
ORPHA:171829 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... |
ORPHA:320391 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Agitation, Large for gestational age, Ventriculomegaly |
OMIM:616116 |
| Alg6-Cdg |
|
Failure to thrive, Rod-cone dystrophy, Retinal degeneration |
ORPHA:79320 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Partial agenesis of the corpus callosum, Optic disc ... |
OMIM:616171 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Decreased nerve conduction velocity, Truncal obesity |
ORPHA:2928 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Small for gestational age, Increased circulating gonadot... |
OMIM:300869 |
| Prader-Willi Syndrome |
|
Primary amenorrhea, Failure to thrive in infancy, Precocious puberty, Decreased response to growt... |
OMIM:176270 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased female libido, Decreased testicular size,... |
ORPHA:52901 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Truncal obesity, Cryptorchidism |
ORPHA:3459 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Spinocerebellar Ataxia 7 |
|
Macular degeneration, Pigmentary retinopathy, Optic atrophy, Dysphagia |
OMIM:164500 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Obesity |
OMIM:618124 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Large for gestational age, Agitation |
ORPHA:276556 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization, Drusen |
OMIM:608895 |
| Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... |
OMIM:608161 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Optic atrophy, Hydroceph... |
OMIM:613154 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder |
ORPHA:444002 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Dilated fourth ventricle, Retinal dystrophy |
ORPHA:370022 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Retinal degeneration, Failure to thrive, Impulsivity, Attention deficit hyperactiv... |
ORPHA:442835 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Decreased body weight, Polyphagia |
OMIM:620085 |
| Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Polyphagia, Large for gestational age, Agitation |
ORPHA:276575 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Focal T2 hyperintense thalamic lesion, Dysphagia, Optic disc pallor, Pigmen... |
ORPHA:79264 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Band Heterotopia |
|
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Large for gestational age, Agitation |
ORPHA:276580 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
| Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital stationary night blindness |
ORPHA:352530 |
| Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
| Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy, Cryptorchidism |
OMIM:249270 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
| Gangliocytoma |
|
Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary null cell adeno... |
ORPHA:251937 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia |
OMIM:613845 |
| Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Obe... |
OMIM:610628 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Ventriculomegaly, Attention deficit hyperactivity disorder, Retinal detachmen... |
ORPHA:819 |
| Wagr Syndrome |
|
Ambiguous genitalia, Obesity, Displacement of the urethral meatus, Cryptorchidism |
ORPHA:893 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| 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 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
| Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
| Perrault Syndrome 4 |
|
Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrhea, Oligomenorrhea, Disprop... |
OMIM:615300 |
| Laurence-Moon Syndrome |
|
Obesity, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism |
ORPHA:2377 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
| Bardet-Biedl Syndrome 1 |
|
Rod-cone dystrophy, Hypogonadism, Hyperautofluorescent macular lesion, Decreased testicular size,... |
OMIM:209900 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... |
OMIM:304020 |
| Bardet-Biedl Syndrome |
|
Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Cryptorchidism, Obesity, Pigmentary r... |
ORPHA:110 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Male infertility, Elevated circulating luteinizing hormone level, Non-... |
OMIM:618086 |
| Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Alg8-Cdg |
|
Cataract, Hyponatremia |
ORPHA:79325 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis, Hyponatremia |
ORPHA:178478 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Agitation, Disinhibition, Polyphagia, Lateral ventricle dilatation |
OMIM:607485 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| 48,Xxxy Syndrome |
|
Hypogonadism, Decreased testicular size, Infertility, Hypoplasia of penis, Azoospermia, Attention... |
ORPHA:96263 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
| Frontotemporal Dementia |
|
Disinhibition, Polyphagia, Amyotrophic lateral sclerosis |
OMIM:600274 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Malan Overgrowth Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Optic disc hypoplasia, Tall stature, Optic disc p... |
ORPHA:420179 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Optic atrophy, Hydrocephalus, Failure to thrive, Retinal detachment, Colpocephaly |
OMIM:619833 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... |
OMIM:613750 |
| 16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Ventriculomegaly, Hypogonadism, Hydrocephalus, Failure to thrive, Impuls... |
ORPHA:500055 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Decreased body weight, Ventriculomegaly, Dysphagia, Obesity |
ORPHA:589821 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Lateral ventricle dilatation |
OMIM:618330 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Polyphag... |
OMIM:609734 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... |
ORPHA:100924 |
| Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
| Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Chorioretinal coloboma, Retinal degen... |
OMIM:610688 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Optic disc hypoplasia, Agenesis of corpus callosum, Colpocephaly |
OMIM:619955 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Rod-cone dystrophy, Aganglionic megacolon, Retinal dystrophy, Attention deficit hyperactivity dis... |
ORPHA:261222 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Retinal degeneration, Macular atrophy, Attenuation of retina... |
OMIM:619260 |
| Angelman Syndrome |
|
Precocious puberty in females, Hyperactivity, Optic atrophy, Obesity, Polyphagia, Dysphagia, Opti... |
ORPHA:72 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Optic atrophy, Lateral ventricle dilatation, Small for gestational age,... |
ORPHA:3078 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Neonatal death, Rod-cone dystrophy |
OMIM:610127 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Ventriculomegaly, Increased body weight |
OMIM:182290 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Optic atrophy, Macular hypoplasia, Communicating hydrocephalus, Colpocephaly |
OMIM:615219 |
| Developmental And Epileptic Encephalopathy 28 |
|
Retinal degeneration, Optic atrophy |
OMIM:616211 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Hyperactivity, Obesity |
ORPHA:3077 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Enlarged fossa interpeduncularis, Pigmentary retinopathy, Lateral ventricle di... |
OMIM:608629 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Retinal dystrophy, Obesity |
ORPHA:464282 |
| Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle dilatation, Optic nerve... |
OMIM:618736 |
| Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
| Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
| 2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Hyperactivity, Hypoplasia of penis, Cryptorchidism |
ORPHA:228402 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism, Obesity, Restlessness |
OMIM:300055 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
| Man1B1-Cdg |
|
Polyphagia, Truncal obesity |
ORPHA:397941 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Dysphagia, Lateral ventricle dilatation, Degeneration of anterior horn cells |
OMIM:607596 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal cornea morphology,... |
ORPHA:411634 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Increased body weight, Attention deficit hyperactivity disorder, Cryptorchidism |
ORPHA:589905 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex |
OMIM:615147 |
| Renal Hypoplasia, Bilateral |
|
Astigmatism, Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Ventriculomegaly, Abnormal testis morphology, Hypoplasia of penis, Failure to thrive, Cryptorchid... |
ORPHA:96147 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypogonadism, Retinal atrophy, Infertility, Oligomenorrhea, Dysphagia, Delayed menarche |
ORPHA:412057 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Polyphagia |
OMIM:617885 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Precocious puberty, Ventriculomegaly, Hypospadias, Cryptorchidism, Obesity |
ORPHA:254346 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity |
ORPHA:238624 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
| Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Retinal degeneration, Macular degeneration, Azoospermia, Pigmentary retin... |
ORPHA:99 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Hypospadias, Ventriculomegaly, Truncal obesity |
ORPHA:3224 |
| Trisomy 18P |
|
Bilateral cryptorchidism, Attention deficit hyperactivity disorder, Polyphagia, Facial palsy |
ORPHA:1715 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating prolactin concentration, Hypopituitarism, Pituitary adenoma, Overgrowth, Po... |
OMIM:300942 |
| Weaver Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocele testis, Overgrowth, Polyphagia, Cryptor... |
OMIM:277590 |
| Pick Disease Of Brain |
|
Disinhibition, Polyphagia |
OMIM:172700 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity |
OMIM:617752 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Obesity, Oral-pharyngeal dysphagia |
ORPHA:480907 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Heterochromia iridis, Corneal opacity, Hyponatremia |
ORPHA:1764 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity |
ORPHA:254531 |
| Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
| Hsd10 Disease, Infantile Type |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Dysphagia, Restlessness |
ORPHA:391428 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... |
OMIM:270200 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Large for gestational age, Optic nerve hypoplasia, Overgrowth, Unilateral cryptorchidism, Tall st... |
ORPHA:137634 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Ventriculomegaly, Hydrocephalus, Abnormal optic disc morphology, Obesity, Hypospad... |
ORPHA:96121 |
| Urban-Rogers-Meyer Syndrome |
|
Obesity, Hypoplasia of penis, Hypogonadism, Cryptorchidism |
ORPHA:3409 |
| Bdv Syndrome |
|
Primary amenorrhea, Decreased thyroid-stimulating hormone level, Cryptorchidism, Hypogonadotropic... |
OMIM:619326 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal retinal morphology on macular OCT, Obesity, Polyphagia, Macular dystrophy |
ORPHA:251004 |
| Insulinoma |
|
Polyphagia, Pituitary prolactin cell adenoma, Increased body weight |
ORPHA:97279 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
| 15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Microphallus, Small for gestational age, F... |
ORPHA:94065 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:619381 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Obesity, Hyperactivity, Cryptorchidism |
OMIM:614613 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Impulsivity, Attention deficit hyperactivity disorder, Dysphagia, Obesity, Ag... |
OMIM:619312 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryptorchidism, Large for gestat... |
ORPHA:544488 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
| Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Retinal dystrophy, Abnor... |
ORPHA:397715 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Disinhibition, Lateral ventricle dilatation |
OMIM:221770 |
| Megalencephaly |
|
Macroorchidism, Long penis, Truncal obesity |
ORPHA:2477 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300431 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
| Sjögren-Larsson Syndrome |
|
Macular degeneration, Retinopathy, Abnormality of retinal pigmentation |
ORPHA:816 |
| Lead Poisoning |
|
Decreased female libido, Small for gestational age, Infertility, Abnormality of the autonomic ner... |
ORPHA:330015 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Tatton-Brown-Rahman Syndrome |
|
Obesity, Proportionate tall stature, Ventriculomegaly, Cryptorchidism |
ORPHA:404443 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... |
ORPHA:364055 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Cataract, Hyponatremia, Hypocalcemia |
OMIM:617913 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| Halperin-Birk Syndrome |
|
Ventriculomegaly, Optic atrophy, Pseudobulbar paralysis, Failure to thrive, Agenesis of corpus ca... |
OMIM:618651 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Small for gestational age, Failure to thrive, Attention deficit hype... |
ORPHA:73272 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Lateral ventricle dilatation |
ORPHA:300573 |
| Wagro Syndrome |
|
Decreased testicular size, Agitation, Hypoplastic female external genitalia, Polyphagia, Obesity |
OMIM:612469 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Small for gestational age, Cryptorchidism, Dysphagia, Micropenis |
OMIM:619847 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:613443 |
| Oguchi Disease |
|
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon |
ORPHA:75382 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
| Leber Congenital Amaurosis 4 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Optic atrophy, Retinal atrophy, Agenesis of corpus callosum, Hydrocephalus, Opt... |
OMIM:236670 |
| Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Obesity, Hydrocephalus |
ORPHA:2180 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Small for gestational age, Cryptorchidism, Truncal obesity, Obesity |
ORPHA:96184 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Decreased response to growth hormone stimulation test, Premature ovarian insufficiency, Retinal d... |
ORPHA:96179 |
| Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Decreased response to growth hormone stimulation test, Optic nerve hypopla... |
OMIM:609053 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Pseudohypoparathyroidism, Type Ic |
|
Obesity, Elevated circulating thyroid-stimulating hormone concentration, Choroid plexus calcifica... |
OMIM:612462 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
| Summitt Syndrome |
|
Obesity, Tall stature |
ORPHA:3210 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Small for gestational age, Partial agenesis of th... |
ORPHA:79243 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Lateral ventricle dilatation |
ORPHA:284417 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| 13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Hyperactivity, Obesity, Cryptorchidism |
ORPHA:412035 |
| Kohlschutter-Tonz Syndrome-Like |
|
Decreased body weight, Ventriculomegaly, Lateral ventricle dilatation, Agitation, Overweight, Dys... |
OMIM:619229 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Ventriculomegaly, Lateral v... |
OMIM:615873 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Kallmann Syndrome |
|
Decreased fertility, Primary amenorrhea, Decreased testicular size, Anterior hypopituitarism, Hyp... |
ORPHA:478 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism |
OMIM:619244 |
| Multiple Sulfatase Deficiency |
|
Retinal degeneration, Hydrocephalus, Ventriculomegaly |
OMIM:272200 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618089 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... |
OMIM:617547 |
| Carpenter Syndrome |
|
External genital hypoplasia, Abnormal reproductive system morphology, Obesity, Cryptorchidism |
ORPHA:65759 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
| Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Impotence, Decreased female libido, Pa... |
ORPHA:91355 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, Ab... |
OMIM:194072 |
| Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hypospadias, Hyperactivity, Lateral ventricle dilatation |
OMIM:617751 |
| Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
| Bardet-Biedl Syndrome 20 |
|
Rod-cone dystrophy, Papilledema, Retinal vascular tortuosity, Bilateral cryptorchidism, Male hypo... |
OMIM:619471 |
| Bardet-Biedl Syndrome 12 |
|
Rod-cone dystrophy, Hypogonadism, Hydrometrocolpos, Vaginal atresia, Obesity |
OMIM:615989 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Incr... |
ORPHA:1772 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... |
OMIM:613807 |
| Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
| Rafiq Syndrome |
|
Obesity, Truncal obesity |
OMIM:614202 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
| Congenital Myopathy 9A |
|
Obesity, Cryptorchidism |
OMIM:618822 |
| Halothane Hepatitis |
|
Obesity |
OMIM:234350 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Adams-Oliver Syndrome 2 |
|
Optic atrophy, Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:600955 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization, Cryptorchidism |
ORPHA:404451 |
| Holoprosencephaly 5 |
|
Central diabetes insipidus, Hydrocephalus, Lateral ventricle dilatation |
OMIM:609637 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Obesity, Micropenis, Cryptorchidism |
OMIM:619185 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Lateral ventricle dilatation |
OMIM:614105 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Obesity, Cryptorchidism |
ORPHA:464288 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity |
OMIM:613192 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder |
OMIM:301013 |
| 1P36 Deletion Syndrome |
|
Abnormality of female external genitalia, Ventriculomegaly, Hypogonadism, Ocular albinism, Optic ... |
ORPHA:1606 |
| Cohen Syndrome |
|
Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, Optic atr... |
OMIM:216550 |
| Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Eunuchoid habitus, Female pseudohermaph... |
ORPHA:91 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Lateral ventricle dilatation |
OMIM:619278 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Failure to thrive, Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:618606 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hypogonadism, External genital hypoplasia, Decreased testicular size, Truncal obesity, Micropenis |
ORPHA:3041 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Optic nerve hypoplasia, Cryptorchidism, Dysphagia, Colpocephaly |
ORPHA:261250 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
| Microtriplication 11Q24.1 |
|
Obesity |
ORPHA:289522 |
| Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
| Kleefstra Syndrome |
|
Ventriculomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Obesity, Micropenis, Agenesis... |
ORPHA:261494 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Retinopathy, Angioid streaks of the fundus, Retinal degeneration, Failure to thrive, Macular scar |
OMIM:239000 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries, Attention deficit hyperactivity disorder, Truncal obesity |
ORPHA:284180 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Aganglionic megacolon, Weight loss, Polyphagia |
ORPHA:95427 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Reduced sperm motility, Macular atrophy |
OMIM:615434 |
| X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation |
ORPHA:85290 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Obesity, Truncal obesity |
OMIM:618363 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Hypospadias, Hy... |
OMIM:309801 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Primary amenorrhea, Obesity, Abnormal vagina ... |
ORPHA:247768 |
| Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Meningioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Impotence, Neoplasm of t... |
ORPHA:2495 |
| Alstrom Syndrome |
|
Irregular menstruation, Decreased response to growth hormone stimulation test, Cone/cone-rod dyst... |
OMIM:203800 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Optic atrophy, Choroideremia, Anterior hyp... |
ORPHA:1435 |
| Trichothiodystrophy |
|
Ventriculomegaly, Retinal degeneration, Macular degeneration, Partial agenesis of the corpus call... |
ORPHA:33364 |
| Pediatric-Onset Graves Disease |
|
Failure to thrive, Hyperactivity, Polyphagia, Polydipsia |
ORPHA:525731 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Failure to thrive, Attentio... |
OMIM:619575 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypogonadism, Decreased testicular size, Hypoplasia of penis, Truncal obesity, Cryptorchidism, Sm... |
ORPHA:127 |
| Monosomy 13Q34 |
|
Metrorrhagia, Obesity, Agenesis of corpus callosum |
ORPHA:96168 |
| Pseudohypoparathyroidism, Type Ia |
|
Obesity, Choroid plexus calcification, Hypogonadism |
OMIM:103580 |
| Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
| Adnp Syndrome |
|
Ventriculomegaly, Polyphagia, Cryptorchidism, Attention deficit hyperactivity disorder, Truncal o... |
ORPHA:404448 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Anterior pituitary hypoplasia, Abdominal obesity, Decreased response to growth hormone stimulatio... |
OMIM:618160 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia |
ORPHA:95409 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration |
OMIM:270700 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Retinal degeneration, Rod-cone dystrophy, Cryptorchidism |
ORPHA:166035 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Attention deficit hyperactivity disorder, Ventriculomegaly |
ORPHA:261197 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Precocious puberty, Abnormal testis morphology, Abnormality of the menstr... |
ORPHA:457059 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79473 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
| Joubert Syndrome 8 |
|
Obesity, Pigmentary retinopathy, Optic disc pallor |
OMIM:612291 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Obesity |
ORPHA:1035 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Dysphagia, Dysplastic corpus callosum, Failure to... |
ORPHA:488627 |
| Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:266500 |
| Aicardi Syndrome |
|
Dilated third ventricle, Precocious puberty, Lateral ventricle dilatation, Optic atrophy, Choroid... |
OMIM:304050 |
| Shigellosis |
|
Conjunctivitis, Corneal ulceration, Abnormal blood ion concentration, Hyponatremia |
ORPHA:810 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
| Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
| Silver-Russell Syndrome |
|
Precocious puberty, Decreased testicular size, Cachexia, Hypospadias, Cryptorchidism, Abnormality... |
ORPHA:813 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Impulsivity, Attention deficit hyperactivity disorder, Lateral ventricle dilatation |
OMIM:617854 |
| Sotos Syndrome |
|
Ventriculomegaly, Overgrowth, Partial agenesis of the corpus callosum, Attention deficit hyperact... |
OMIM:117550 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Hydrocele testis, Penile freckling, Overgrowth, Obesity |
OMIM:605309 |
| Laron Syndrome |
|
Hypoplasia of penis, Truncal obesity |
ORPHA:633 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Hypogonadism, Decreased testicular size, Cachexia, Hypoplasia of penis, Obesity |
ORPHA:85293 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:361 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
| Momo Syndrome |
|
Overgrowth, Obesity, Retinal coloboma |
OMIM:157980 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Primary Ciliary Dyskinesia |
|
Rod-cone dystrophy, Abnormal sperm motility, Ventriculomegaly, Hydrocephalus, Female infertility,... |
ORPHA:244 |
| Pituitary Apoplexy |
|
Mydriasis, Hyponatremia |
ORPHA:95613 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618430 |
| Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Cohen Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Obes... |
ORPHA:193 |
| Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
| Glutamine Deficiency, Congenital |
|
Subependymal cysts, Neonatal death, Lateral ventricle dilatation |
OMIM:610015 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
| Cockayne Syndrome A |
|
Irregular menstruation, Pigmentary retinopathy, Ventriculomegaly, Hypogonadism, Normal pressure h... |
OMIM:216400 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Retinal degeneration, Hydrocephalus, Failure to thrive, Macular coloboma, Pigmenta... |
ORPHA:79282 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Obesity |
OMIM:600430 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Attention deficit hyperactivity disorder, Elevated circulating thyroid... |
OMIM:274300 |
| Slc35A2-Cdg |
|
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Lateral ventr... |
ORPHA:356961 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
| Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Lateral ventricle dilatation, Cryptorchidism |
ORPHA:565624 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal neuron morphology, Hyperactivity, Precocious puberty, Obesity |
ORPHA:163681 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... |
ORPHA:52427 |
| Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Lateral ven... |
ORPHA:177907 |
| Carpenter Syndrome 1 |
|
Precocious puberty, Optic atrophy, External genital hypoplasia, Cryptorchidism, Obesity |
OMIM:201000 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Penile hypospadias, Congenital posterior urethral valve, Failure to thrive, Hypospadias, Cryptorc... |
OMIM:620083 |
| Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Increased body weight |
ORPHA:276608 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Hyperactivity |
ORPHA:168491 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Weight loss, Lateral ventricle dilatation, Failure to thrive, Chorioretinal atroph... |
OMIM:619487 |
| Momo Syndrome |
|
Large for gestational age, Overgrowth, Chorioretinal coloboma, Tall stature, Obesity |
ORPHA:2563 |
| Retinitis Pigmentosa 74 |
|
Rod-cone dystrophy, Obesity, Pigmentary retinopathy, Optic disc pallor |
OMIM:616562 |
| Alg12-Cdg |
|
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Abnormality of female external genitalia, Ventriculomegaly, Attention deficit... |
ORPHA:2637 |
| Craniosynostosis 6 |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:616602 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Attention deficit hyperactivity disorder, Abdominal obesity, Disproportionate tall stature, Crypt... |
OMIM:301039 |
| Pseudopseudohypoparathyroidism |
|
Obesity |
OMIM:612463 |
| Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy |
ORPHA:168549 |
| Bloom Syndrome |
|
Retinopathy, Premature ovarian insufficiency, Small for gestational age, Azoospermia, Oligospermi... |
ORPHA:125 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:251510 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Rod-cone dystrophy, Optic atrophy, Small for gestational age, Agenesis of ... |
OMIM:614866 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Obesity, Abdominal obesity, Pituitary adenoma, Oligomenorrhea |
OMIM:219090 |
| Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy |
OMIM:200100 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc coloboma, Lateral ventricle dilatation, Optic atrophy, Optic disc pallor, Hydrocephalu... |
OMIM:607872 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
External genital hypoplasia, Decreased testicular size, Polyphagia, Cryptorchidism, Restlessness,... |
ORPHA:251028 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased fertility, Irregular menstruation, Precocious puberty in females, Adrenocorticotropic h... |
ORPHA:90793 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
| White-Sutton Syndrome |
|
Hyperactivity, Rod-cone dystrophy, Optic nerve hypoplasia, Failure to thrive, Overfriendliness, O... |
OMIM:616364 |
| Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremi... |
ORPHA:167 |
| Werner Syndrome |
|
Retinal degeneration, Hypogonadism |
OMIM:277700 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:618619 |
| Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Rod-cone dystrophy, Ventriculomegaly, Optic atrophy, Retinal degeneration, Hydroce... |
ORPHA:581 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Corneal c... |
OMIM:219800 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
| Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Male inferti... |
ORPHA:99429 |
| Achondroplasia |
|
Obesity, Hydrocephalus |
ORPHA:15 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
| Bohring-Opitz Syndrome |
|
Ventriculomegaly, Optic atrophy, Retinal atrophy, Dandy-Walker malformation, Severe failure to th... |
ORPHA:97297 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Impulsivity, Attention d... |
ORPHA:157850 |
| Down Syndrome |
|
Decreased fertility, Aganglionic megacolon, Obesity |
ORPHA:870 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Obesity, Cryptorchidism |
ORPHA:439822 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Khan-Khan-Katsanis Syndrome |
|
Ventriculomegaly, Failure to thrive, Dysphagia, Pigmentary retinopathy, Colpocephaly |
OMIM:618460 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Decreased testicular size, Retinal dystrophy, Hydrocephalus, Optic nerve hypoplasi... |
OMIM:619321 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
| 6Q Terminal Deletion Syndrome |
|
Phimosis, Failure to thrive, Hypospadias, Obesity, Colpocephaly |
ORPHA:75857 |
| Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Obesity, Dysphagia |
ORPHA:411511 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
| Late-Onset Retinal Degeneration |
|
Peripapillary atrophy, Macular degeneration, Choroidal neovascularization, Multifocal subretinal ... |
ORPHA:67042 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Early-Onset Schizophrenia |
|
Decreased female libido, Decreased male libido, Addictive behavior, Attention deficit hyperactivi... |
ORPHA:96369 |
| Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... |
OMIM:300424 |
| Aceruloplasminemia |
|
Retinal degeneration, Macular degeneration, Abnormal thalamic MRI signal intensity, Abnormality o... |
ORPHA:48818 |
| 8P23.1 Microdeletion Syndrome |
|
Weight loss, Hypospadias, Attention deficit hyperactivity disorder, Cryptorchidism, Obesity |
ORPHA:251071 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Hurler Syndrome |
|
Retinal degeneration, Hydrocephalus |
OMIM:607014 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Glutaric Acidemia I |
|
Failure to thrive, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
| Cataract 15, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Addison Disease |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia |
ORPHA:85138 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Obesity |
ORPHA:3191 |
| Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ... |
ORPHA:168558 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Rod-cone dystrophy, Ventriculomegaly, Lateral ventricle dilatation, Dys... |
ORPHA:572798 |
| Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
| Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Polyphagia, Micropenis |
OMIM:156200 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Hyponatremia, Lentiglobus, Hypokalemia, Hypophosphatemia, Buphthalmos,... |
ORPHA:534 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Abnormal eating behavior, Hyperactivity, Obesity, Dysphagia |
ORPHA:98794 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ... |
ORPHA:289548 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventriculomegaly, Macular atrophy, Failure to thrive, Primary amenorrhea, Failure to thrive in in... |
OMIM:619418 |
| Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... |
OMIM:605549 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Facial palsy |
OMIM:256850 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Dysphagia |
OMIM:619780 |
| Cone-Rod Dystrophy 2 |
|
Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... |
OMIM:120970 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Retinal degeneration, Absent scrotum, Dandy-Walker malformation |
OMIM:618479 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium |
ORPHA:436245 |
| Wilson Disease |
|
Failure to thrive, Abnormality of the menstrual cycle, Weight loss, Increased body weight |
ORPHA:905 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Retinopathy, Ventriculomegaly, Hydrocephalus, Large for gestational age, Tall stat... |
ORPHA:77301 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Truncal obesity, Micropenis, Ventriculomegaly, Cryptorchidism |
OMIM:616541 |
| Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Macular degeneration |
ORPHA:284289 |
| Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Obesity, Micropenis, Cryptorchidism |
OMIM:610253 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Comm... |
ORPHA:580 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:618291 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyperkalemia, Hyponatremia |
ORPHA:293978 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Hypospadias, Male urethral meatus stenosis... |
ORPHA:464738 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Attention deficit hyperactivity disorder |
OMIM:619725 |
| Chops Syndrome |
|
Obesity, Optic atrophy, Cryptorchidism |
OMIM:616368 |
| Cone-Rod Dystrophy 10 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Lateral ventricle dilatation |
OMIM:620075 |
| Mody |
|
Retinopathy, Obesity, Large for gestational age, Overweight |
ORPHA:552 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Increased body weight |
OMIM:300860 |
| Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity |
OMIM:615980 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:613767 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Hypogonadism, Optic atrophy, External genital hypoplasia, Cryptorchidism, Obesity, Small scrotum |
OMIM:614231 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Agitation, Truncal obesity |
OMIM:610475 |
| Kabuki Syndrome |
|
Precocious puberty, Ventriculomegaly, Hydrocephalus, Hypoplasia of penis, Failure to thrive, Hypo... |
ORPHA:2322 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Lateral ventricle dilatation |
OMIM:618914 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Ventriculomegaly, Truncal obesity, Attention deficit hyperactivity disorder, Dysphagia, Obesity |
ORPHA:466950 |
| Holoprosencephaly |
|
Iris coloboma, Hyponatremia |
ORPHA:2162 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Failure to thrive in infancy, Lateral ventricle dilatation, Cryptorchidism |
OMIM:611209 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia, Hyponatremia |
ORPHA:275761 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Agitation, Secondary amenorrhea |
OMIM:610489 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinal degeneration, Retinopathy |
OMIM:252600 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Obesity, Optic atrophy |
OMIM:618493 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis... |
ORPHA:754 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Ventriculomegaly, Optic atrophy, Retinal atrophy, Retinal degeneration,... |
OMIM:253280 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Retinopathy, Precocious puberty, Obesity |
OMIM:619269 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Weight loss, Oligospermia, ... |
ORPHA:85450 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Irregular menstruation, Pituitary adenoma, Abnormal libido, Abdominal obesity, Increased body weight |
ORPHA:189427 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Colpocephaly, Agenesis of corpus callosum, Hypospadias, Attention defic... |
OMIM:618820 |
| Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves... |
OMIM:613843 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Communicating hydrocephalus |
OMIM:244400 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity |
ORPHA:77296 |
| White-Sutton Syndrome |
|
Rod-cone dystrophy, Hyperactivity, Obesity, Optic atrophy |
ORPHA:468678 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:619680 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility, Decreased fertility in females, Labial hypertrophy, Polycystic ovaries, Poly... |
OMIM:269700 |
| Ulnar-Mammary Syndrome |
|
Decreased fertility, Hypoplasia of penis, Abnormality of the uterus, Cryptorchidism, Obesity |
ORPHA:3138 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Glandular hypospadias, Choroid plexus cyst, Abnormal preputium morphology, Lateral ventricle dila... |
ORPHA:293725 |
| Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Irregular menstruation, Pituitary adenoma, Abnormal libido, Testicular neoplasm, Abdominal obesit... |
ORPHA:189439 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity |
OMIM:615418 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
| Nephronophthisis 11 |
|
Retinal degeneration, Polydipsia |
OMIM:613550 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity, Primary amenorrhea |
ORPHA:319675 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormality of thalamus morphology, Normal pressure hydrocephalus, Lateral ventricle dilatation, ... |
ORPHA:300570 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Agitation, Lateral ventricle dilatation, Dysphagia |
ORPHA:2148 |
| Cockayne Syndrome |
|
Retinal hemorrhage, Retinal arteriolar constriction, Optic atrophy, Retinal atrophy, Retinal dege... |
ORPHA:191 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Labial hypertrophy, Polycystic ovaries, Polyphagia, Tall stature,... |
OMIM:608594 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
| Angelman Syndrome |
|
Hyperactivity, Obesity |
OMIM:105830 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Bilateral cryptorchidism, Epispadias, Partial ... |
ORPHA:434179 |
| Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology, Failure to thrive, Dys... |
ORPHA:94147 |
| Mannosidosis, Alpha B, Lysosomal |
|
Retinal degeneration |
OMIM:248500 |
| Bainbridge-Ropers Syndrome |
|
Precocious puberty, Lateral ventricle dilatation, Disproportionate tall stature, Failure to thriv... |
OMIM:615485 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... |
OMIM:616959 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Small for gestational age, Failure to thr... |
OMIM:619869 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Agenesis of... |
ORPHA:226307 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration |
ORPHA:79244 |
| Cog5-Cdg |
|
Micropenis, Lateral ventricle dilatation, Cryptorchidism |
ORPHA:263487 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:300952 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperactivity, Decreased body weight, Ventriculomegaly, Bifid scrotum, Hydrocephalus, Agitation, ... |
OMIM:619475 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... |
ORPHA:293987 |
| Distal Monosomy 10Q |
|
Facial diplegia, Failure to thrive, Attention deficit hyperactivity disorder, Lateral ventricle d... |
ORPHA:96148 |
| Chromosome 22Q13 Duplication Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Polyphagia |
OMIM:615538 |
| White-Kernohan Syndrome |
|
Rectovaginal fistula, Attention deficit hyperactivity disorder, Obesity, Dysplastic corpus callosum |
OMIM:619426 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Ventriculomegaly, Dysphagia |
ORPHA:466943 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity |
OMIM:618443 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
| Insulin-Like Growth Factor I, Resistance To |
|
Decreased body weight, Agitation, Truncal obesity |
OMIM:270450 |
| Knobloch Syndrome |
|
Macular degeneration, Hydrocephalus, Vitreoretinopathy, Retinal detachment, Abnormal vitreous hum... |
ORPHA:1571 |
| 2Q37 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder |
ORPHA:1001 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... |
ORPHA:1855 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Chorioretinal atrophy |
OMIM:210370 |
| Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Abnormality of reprod... |
ORPHA:1501 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98855 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... |
ORPHA:85167 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:617397 |
| Atypical Werner Syndrome |
|
Decreased fertility, Decreased body weight, Hypogonadism, Secondary amenorrhea, Abnormal testis m... |
ORPHA:79474 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:620113 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98853 |
| Carney Complex |
|
Leydig cell neoplasia, Macroorchidism, Precocious puberty, Abnormal sperm motility, Increased cir... |
ORPHA:1359 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight |
ORPHA:94086 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Optic atrophy, Hydrocephalus, Optic nerve compression, Lateral ventricle dilatation |
OMIM:612301 |
| Papillorenal Syndrome |
|
Morning glory anomaly, Macular degeneration, Chorioretinal atrophy, Macular hyperpigmentation, Re... |
OMIM:120330 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Optic atrophy, Optic disc pallor |
OMIM:614947 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Agenesis of corpus callo... |
OMIM:617260 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Retinal peau d'orange, Optic disc drusen, Angioid streaks of the fundus, Macu... |
OMIM:264800 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Cryptorchidism |
OMIM:616078 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Noonan Syndrome 14 |
|
Lateral ventricle dilatation, Cryptorchidism |
OMIM:619745 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Obesity, Overweight |
ORPHA:26793 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
| Vici Syndrome |
|
Penile hypospadias, Ocular albinism, Macular hypoplasia, Macular atrophy, Hypopigmentation of the... |
OMIM:242840 |
| Kniest Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative ... |
ORPHA:485 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
| Adiposis Dolorosa |
|
Obesity |
ORPHA:36397 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Ambiguous genitalia, Micropenis, Lateral ventricle dilatation |
OMIM:263520 |
| Cushing Disease |
|
Pituitary corticotropic cell adenoma, Optic nerve compression, Secondary amenorrhea, Truncal obes... |
ORPHA:96253 |
| 22Q11.2 Deletion Syndrome |
|
Optic atrophy, Aganglionic megacolon, Hydrocephalus, Retinal arteriolar tortuosity, Abnormality o... |
ORPHA:567 |
| Coccidioidomycosis |
|
Abnormal retinal morphology, Abnormality of the male genitalia, Hydrocephalus, Abnormal sperm mor... |
ORPHA:228123 |
| Cancer-Associated Retinopathy |
|
Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on macular OCT, Prostate cancer,... |
ORPHA:71505 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Agitation, Increased body weight |
ORPHA:263455 |
| Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Failure to thrive, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea, Incr... |
ORPHA:264580 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
| Distal Monosomy 12Q |
|
Hyperactivity, Pituitary adenoma, Unilateral cryptorchidism, Obesity, Failure to thrive in infanc... |
ORPHA:96149 |
| Farber Disease |
|
Failure to thrive, Macular degeneration, Cherry red spot of the macula |
ORPHA:333 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Agitation, Truncal obesity |
OMIM:219080 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Colpocephaly, Chordee, Cryptorchidism |
ORPHA:477993 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Optic atrophy |
ORPHA:314404 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal autonomic nervous system physiology, Macular degeneration, Abnormal cranial nerve morpho... |
ORPHA:247234 |
| Mosaic Trisomy 1 |
|
Agenesis of corpus callosum, Penile hypospadias, Micropenis, Lateral ventricle dilatation |
ORPHA:1692 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Lateral ventricle dilatation, Small pituitary gland, Hypospadias, Micropenis |
OMIM:619479 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
| Alström Syndrome |
|
Cone/cone-rod dystrophy, Oligospermia, Delayed menarche, Retinal dystrophy, Decreased fertility i... |
ORPHA:64 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea, Increased body weight |
ORPHA:79240 |
| Gabriele-De Vries Syndrome |
|
Attention deficit hyperactivity disorder, Lateral ventricle dilatation, Cryptorchidism |
OMIM:617557 |
| Partial Deletion Of The Short Arm Of Chromosome 7 |
|
Bilateral cryptorchidism, Obesity, Hypospadias, Dysphagia |
ORPHA:261911 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Rod-cone dystrophy, Ventriculomegaly, Macular degeneration, Retinal dystrophy, Attenuation of ret... |
OMIM:266920 |
| Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Abnormality of peripheral nerve conduction, Retinal atrophy, Retinal degenera... |
ORPHA:90324 |
| Alport Syndrome |
|
Retinal flecks, Macular degeneration, Clitoral hypertrophy, Dysphagia |
ORPHA:63 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Hypogonadism, Hypospadias, ... |
ORPHA:280651 |
| Peripartum Cardiomyopathy |
|
Obesity |
ORPHA:563 |
| Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Hyperactivity, Bifid scrotum, Bicornuate uterus, Agangli... |
OMIM:270400 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus |
OMIM:177850 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy |
OMIM:616722 |
| 17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Secondary amenorrhea, Pineal cyst, Truncal... |
ORPHA:529962 |
| Witteveen-Kolk Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Ventriculomegaly, Microphal... |
OMIM:613406 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Obesity |
ORPHA:369837 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Birth length greater than 97th percentile, Lateral ventricle dilatation, Large for gestational ag... |
OMIM:300868 |
| Say-Barber-Miller Syndrome |
|
Rod-cone dystrophy, Optic atrophy, Hypogonadism, Macular degeneration, Cryptorchidism |
ORPHA:3132 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ventriculomegaly, Truncal obesity |
OMIM:301072 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Hyperkalemia, Hyponatremia |
ORPHA:90794 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Optic atrophy, Retinal degeneration, Dysphagia, Pigmentary retinopathy |
OMIM:234200 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Precocious puberty, Truncal obesity |
OMIM:210720 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Agenesis of corpus callosum, Colpocephaly |
OMIM:301043 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Increased serum bile acid concentration, Hyponatremia |
ORPHA:731 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity |
OMIM:618620 |
| Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight |
ORPHA:69663 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation |
ORPHA:457279 |
| Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Obesity |
OMIM:301066 |
| 3Q29 Microduplication Syndrome |
|
Obesity |
ORPHA:251038 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Retinal atrophy, Failure t... |
ORPHA:2785 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Hydrocele testis, Failure to thrive, Hyposp... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Hydrocele testis, Failure to thrive, Hyposp... |
ORPHA:353277 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity |
ORPHA:209902 |
| Congenital Analbuminemia |
|
Small for gestational age, Obesity |
ORPHA:86816 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Hypogonadism, Optic atrophy, Decreased testicular size, Hypospadias, Cryptorchidis... |
OMIM:309580 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Micropenis, Cryptorchidism |
OMIM:618653 |
| Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Obesity, Abnormality of the pineal gland |
ORPHA:369950 |
| Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Retinopathy, Failure to thrive, Hypospadias, Impulsivity, Cryptorchidism, Obesity |
ORPHA:353281 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
| Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227650 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Obesity |
ORPHA:98907 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:601777 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Premature thelarche, Shawl scrotum, Small for gestational age, Bilateral cryptorch... |
OMIM:180849 |
| Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Rod-cone dystrophy, Vesicovaginal fistula, Lateral ventricle dilatation |
OMIM:300896 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... |
ORPHA:99228 |
| Monosomy X |
|
Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... |
ORPHA:99226 |
| Turner Syndrome |
|
Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... |
ORPHA:881 |
| Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Hydrocephalus, Failure to thrive, Partial agenesis of the corpus ca... |
OMIM:210710 |
| Cornelia De Lange Syndrome |
|
Ventriculomegaly, Hypoplastic labia majora, Hypoplasia of penis, Abnormality of the uterus, Failu... |
ORPHA:199 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Lateral ventricle dilatation |
OMIM:614098 |
| Thyrotoxic Periodic Paralysis |
|
Obesity, Abnormality of peripheral nerve conduction, Weight loss |
ORPHA:79102 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Hyperkalemia, Hyponatremia |
OMIM:201750 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
| Beckwith-Wiedemann Syndrome |
|
Gonadoblastoma, Choroideremia, Large for gestational age, Tall stature, Cryptorchidism, Obesity |
ORPHA:116 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| 1P21.3 Microdeletion Syndrome |
|
Obesity, Abnormal eating behavior |
ORPHA:293948 |
| Myhre Syndrome |
|
Small for gestational age, Obesity, Cryptorchidism |
OMIM:139210 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Obesity, Agenesis of corpus callosum |
ORPHA:48652 |
| Ulnar-Mammary Syndrome |
|
Imperforate hymen, Anterior pituitary hypoplasia, Bicornuate uterus, Shawl scrotum, Ectopic poste... |
OMIM:181450 |
| Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Enlarged polycystic ovaries, Weight loss, Abnormality of body weight, Poly... |
ORPHA:2298 |
| Dysbetalipoproteinemia |
|
Obesity |
ORPHA:412 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Obesity, Decreased response to growth hormone stimulation test |
ORPHA:444077 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Optic disc coloboma, Failure to thrive, Obesity |
OMIM:617157 |
| Williams Syndrome |
|
Precocious puberty, Functional abnormality of male internal genitalia, Retinal arteriolar tortuos... |
ORPHA:904 |
| Genitopatellar Syndrome |
|
Enlarged labia minora, Agenesis of corpus callosum, Labial hypoplasia, Cryptorchidism, Dysphagia,... |
OMIM:606170 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Optic atrophy, Optic nerve hypoplasia, Progressiv... |
ORPHA:500150 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity |
OMIM:615812 |
| Carpenter Syndrome 2 |
|
Shawl scrotum, Bilateral cryptorchidism, Cryptorchidism, Obesity, Micropenis |
OMIM:614976 |
| Primrose Syndrome |
|
Ventriculomegaly, Bilateral cryptorchidism, Attention deficit hyperactivity disorder, Hypergonado... |
OMIM:259050 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Prostate cancer, Weight loss, Secondary amenorrhea, Truncal... |
ORPHA:99889 |
| Gaisböck Syndrome |
|
Obesity, Overweight |
ORPHA:90041 |
| Neutral Lipid Storage Myopathy |
|
Pineal cyst, Obesity |
ORPHA:98908 |
| Williams-Beuren Syndrome |
|
Retinal arteriolar tortuosity, Attention deficit hyperactivity disorder, Urethral stenosis, Obesi... |
OMIM:194050 |
| Choreoacanthocytosis |
|
Hyperactivity, Weight loss, Lateral ventricle dilatation, Abnormal autonomic nervous system physi... |
ORPHA:2388 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Lateral ventricle dilatation, Bifid scrotum, Retinal coloboma, Webbed penis, Aganglionic megacolo... |
ORPHA:261537 |
| Lysinuric Protein Intolerance |
|
Failure to thrive, Truncal obesity |
OMIM:222700 |
| Digeorge Syndrome |
|
Ovarian cyst, Obesity, Attention deficit hyperactivity disorder, Hydrocele testis |
OMIM:188400 |
| Kabuki Syndrome 1 |
|
Premature thelarche, Lateral ventricle dilatation, Hydrocephalus, Cryptorchidism, Micropenis, Ano... |
OMIM:147920 |
| Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Lateral ventricle dilatation, Bifid scrotum, Retinal coloboma, Webbed penis, Aganglionic megacolo... |
ORPHA:261552 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity |
ORPHA:70591 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
| Pallister-Killian Syndrome |
|
Ventriculomegaly, Labial hypoplasia, Aplasia of the upper vagina, Hypoplastic labia majora, Aplas... |
OMIM:601803 |
| Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
| Cystic Fibrosis |
|
Failure to thrive, Male infertility |
OMIM:219700 |
| Noonan Syndrome 1 |
|
Hypogonadism, Hypospadias, Male infertility, Cryptorchidism, Failure to thrive in infancy |
OMIM:163950 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Failure to thrive, Truncal obesity |
OMIM:612474 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, ... |
OMIM:619534 |
