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, Hypogonadism, Obesity |
OMIM:615988 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Decreased response... |
OMIM:275400 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal d... |
OMIM:615982 |
Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Obesity, Hypogonadism, Macular dystrophy, Micropenis, Rod-cone dystr... |
OMIM:615983 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity |
OMIM:615987 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy, P... |
OMIM:617119 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:3363 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity, Micropenis |
ORPHA:75858 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decreased testicular size |
OMIM:614962 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529799 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Polydi... |
OMIM:615986 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615995 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... |
OMIM:300148 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity |
ORPHA:3055 |
Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
Leptin Receptor Deficiency |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Abnormal e... |
OMIM:614963 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia |
OMIM:268010 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dy... |
ORPHA:363741 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Obesity, Infertility, Oligozoospermia |
OMIM:615703 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Trisomy 5P |
|
Hypoplasia of penis, Obesity, Ventriculomegaly |
ORPHA:1742 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation |
OMIM:616521 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Ventriculomegaly |
OMIM:300209 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Chorioretinal hypopigmentation, ... |
ORPHA:398079 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity, Macular degeneration, Dysphagia, Agenesis of corpus callosum, Retinal degeneration |
OMIM:604360 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
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 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... |
ORPHA:791 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Obesity, Hypogonadism |
ORPHA:141333 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Agenesis of corpus callosum |
ORPHA:85334 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Retinal dystrophy, Childhood-onset truncal obesity |
OMIM:610156 |
Bardet-Biedl Syndrome 7 |
|
Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615984 |
Mehmo Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Obesity, Agitation, Micropenis |
ORPHA:85282 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m... |
OMIM:602271 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Sec... |
ORPHA:3085 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Optic atrophy, Abnormal mitochondrial morphology, Agitation, R... |
OMIM:300438 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity |
ORPHA:177910 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... |
ORPHA:71526 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, Polyphagia,... |
OMIM:616831 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ... |
OMIM:617406 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Rod-cone dystrophy, Obesity |
OMIM:615633 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Chorioret... |
ORPHA:398069 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity |
ORPHA:2233 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Rod-cone dystrophy, Hypospadias, Obesity |
OMIM:615985 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Retrobulbar optic ... |
OMIM:619737 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, A... |
ORPHA:10 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Hypogonadotropic hypogonadism, Decreased body weight |
OMIM:619420 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Laurence-Moon Syndrome |
|
Small scrotum, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis |
OMIM:245800 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Obesity, Hypogonadism, Skin-picking, M... |
OMIM:615547 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:204200 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... |
ORPHA:66628 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Micropenis, Obesity, Hypoplasia of the prostate |
OMIM:301900 |
Temple Syndrome |
|
Small for gestational age, Precocious puberty, Cryptorchidism, Overweight, Hydrocephalus, Obesity... |
OMIM:616222 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Ventriculomegaly |
ORPHA:2185 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... |
ORPHA:179494 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polydipsia, Macular atrophy, Ob... |
OMIM:615994 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Chung-Jansen Syndrome |
|
Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, Attention deficit hyperactivity disorder |
OMIM:617991 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... |
ORPHA:54595 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Macular degeneration, Optic atrophy, Retinal degeneration |
OMIM:256730 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Retinal dystrophy, Obesity |
OMIM:616756 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Hydrocephalus, Increas... |
ORPHA:8 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, External genital hypoplasia, Obesity |
OMIM:600151 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Macroorchi... |
ORPHA:3077 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy |
OMIM:615996 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Septo-optic dysplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia... |
ORPHA:3157 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder, ... |
ORPHA:369873 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Optic atrophy, Retinal degeneration |
OMIM:252650 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Microphall... |
OMIM:300957 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Decreased fertility, Obesity, Hypogonadism... |
ORPHA:2234 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration |
OMIM:303110 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Retinal degeneration, Obesity, Ventriculomegaly |
OMIM:615630 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Abdominal obesity, Hypogonadism,... |
OMIM:300354 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:250972 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Obesity And Hypopigmentation |
|
Polyphagia, Overgrowth, Obesity |
OMIM:620195 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Obesity, Macular degeneration, Hypogonadism, Rod-cone dystrophy |
OMIM:616629 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Aggressive behavior, Large for gestational age, Self-injurious behavior, Agitation, Ventriculomegaly |
OMIM:616116 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal... |
ORPHA:228402 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity |
ORPHA:171706 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Ventriculomegaly |
ORPHA:521390 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
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 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity |
ORPHA:893 |
Wilson-Turner Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity |
ORPHA:3459 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration |
OMIM:249270 |
11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Laurence-Moon Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Displacement of the urethral meatus, Obesity |
ORPHA:2377 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Obesity, Micropenis |
ORPHA:171839 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... |
OMIM:606407 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Decreased fertility, ... |
ORPHA:2235 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Retinal thinning |
OMIM:615960 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Overweight, Obesity, Lateral ventricle dilatation, Dysphagia, Hypothalam... |
ORPHA:2822 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Micropenis, Decreased... |
OMIM:610628 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, External genital hypoplasia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Va... |
OMIM:605231 |
Cornelia De Lange Syndrome 5 |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Micropenis, Decreased testicular size, Ventriculom... |
OMIM:300882 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Optic atrophy, Obesity |
OMIM:614651 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... |
ORPHA:33543 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
X-Linked Acrogigantism |
|
Increased body mass index, Enlarged pituitary gland, Abnormal optic chiasm morphology, Elevated c... |
ORPHA:300373 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly |
OMIM:614870 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ventricle dilata... |
OMIM:617296 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Dilated third ventricle, Hydrocepha... |
ORPHA:500055 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Prader-Willi Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Failure to thrive in i... |
OMIM:176270 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Optic atrophy, Colpocephaly, Failure to thrive, Ventriculomegaly |
OMIM:616034 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Pigmentary retinopathy, Hypoplasia of the ovary, Hy... |
ORPHA:110 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Retinal pigm... |
OMIM:619517 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Premature ovarian insufficiency |
OMIM:615889 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Cataract |
OMIM:620157 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillo... |
OMIM:182290 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Cach Syndrome |
|
Premature ovarian insufficiency, T2 hypointense thalamus, Optic atrophy, Primary amenorrhea, Seco... |
ORPHA:135 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Wagro Syndrome |
|
Decreased testicular size, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polypha... |
OMIM:612469 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors |
ORPHA:444002 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Unilateral cryptorchidism, Optic nerve hypoplasia, Large for gestational age, Overgrowth, Aplasia... |
ORPHA:137634 |
Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thru... |
ORPHA:72 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Focal T2 hyperintense thalamic lesion, Dysphagia, Abno... |
ORPHA:79264 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Alg6-Cdg |
|
Rod-cone dystrophy, Failure to thrive, Retinal degeneration |
ORPHA:79320 |
Clark-Baraitser syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
Trisomy 18P |
|
Bilateral cryptorchidism, Polyphagia, Facial palsy, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Agitation, Small for gestational age, Polyphagia, Large for gestational age |
ORPHA:324575 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Smith-Magenis Syndrome |
|
Retinal detachment, Failure to thrive in infancy, Precocious puberty, Obesity, Self-injurious beh... |
ORPHA:819 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglioni... |
OMIM:209900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Partial agenesis of the corpus callosum, Optic atrophy, Retin... |
OMIM:616171 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Increased body weight, Impulsivity |
ORPHA:589905 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib... |
OMIM:607485 |
Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Cryptorchidism, Obesity, Proportionate tall stature, Ventriculomegaly |
ORPHA:404443 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Aggressive behavior, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agene... |
OMIM:619244 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Aggressive behavior, Hydrocephalus, Optic atrophy, Self-injurious behavior, C... |
OMIM:619833 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Dysphagia |
OMIM:164500 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testicular size... |
ORPHA:320391 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization |
OMIM:608895 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Macular degeneration, Choroidal neovascularization |
ORPHA:404451 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Obesity |
OMIM:618124 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Truncal obesity, Premature ovarian insufficiency |
ORPHA:2928 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Hyperactivity, Hypospadias, Obesity |
OMIM:614613 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Lateral ventricl... |
OMIM:613154 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Cryptorchidism, Obesity, Failure to thrive, Self-mutilation |
ORPHA:412035 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Impulsivity, Optic atrophy, Attention deficit hyperactivity disorder, Failure to thrive, Retinal ... |
ORPHA:442835 |
Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Colpocephaly, Choking episodes, Failure to thrive, Agenesis of corpus callosum, Ve... |
OMIM:620352 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum, Retinal degeneration |
OMIM:615249 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Failure to thrive, Cryptorchidism, Obesity, Abnormal testis morphology, Agen... |
ORPHA:96147 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital stationary night blindness, Obesity |
ORPHA:352530 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Bilateral cryptorchidism, Large for gestational age, Dysplastic corpus callo... |
ORPHA:544488 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276575 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Precocious puberty, Cryptorchidism, Obesity, Truncal obesity |
ORPHA:96184 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Chorioretinal coloboma, Abnormal repe... |
OMIM:610688 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Self-injurious behavior,... |
ORPHA:254346 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Obesity, Bruxism, Macroorchidism, Male hypogonadism |
OMIM:300055 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Small for gestational age, Decreased response to growth hormone stimulation test, Cr... |
ORPHA:94065 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Hydrocephalus, Po... |
ORPHA:96121 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Obesity |
ORPHA:3409 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Weaver Syndrome |
|
Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Overgrowth, Polyphagia, Ventricul... |
OMIM:277590 |
Alg8-Cdg |
|
Hyponatremia, Cataract |
ORPHA:79325 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Infant Botulism |
|
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
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 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Tall stature, Optic disc hypoplasia, Lateral ventricle dilatation, Ventriculom... |
ORPHA:420179 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Carpenter Syndrome |
|
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia, Obesity |
ORPHA:65759 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Joubert Syndrome 37 |
|
Cryptorchidism, Micropenis, Decreased testicular size, Obesity |
OMIM:619185 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Infertili... |
ORPHA:96263 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Obesity, Dysphagia, Decreased body weight, Ventriculomegaly |
ORPHA:589821 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal telangiectasia,... |
OMIM:620155 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious be... |
ORPHA:261494 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Hypospadias |
OMIM:618330 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Cryptorchidism, Lateral ventricle dilatation, Dysphagia, Micropenis |
OMIM:619847 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Retinal dystrophy, Obesity, Attention deficit hyperactivity disorder, Rod-... |
ORPHA:261222 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
OMIM:609734 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Optic disc hypoplasia, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Lateral ventricle dilatation, Inappropriate behavior, Disinhibition, Abnorma... |
OMIM:221770 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... |
OMIM:619260 |
Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Micropenis |
OMIM:619326 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Optic atrophy, Dysphagia, Rod-cone dystrophy, Paroxysmal bursts of laughter, Retina... |
ORPHA:391428 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Small for gestational age, Optic atrophy, Lateral ventricle dilatation,... |
ORPHA:3078 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Optic... |
OMIM:236670 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Retinal dystrophy, Obesity |
ORPHA:464282 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:464288 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Facial palsy, Cryptorchidis... |
OMIM:615873 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells, Lateral ventricle dilatation, Dysphagia |
OMIM:607596 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Ventricul... |
OMIM:613443 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Rod-cone dystrophy, Retinal atrophy |
OMIM:610127 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Truncal obesity, Attention deficit hyperactivity disorder, Polycystic ovaries |
ORPHA:284180 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Retinal dystrophy, Pigmentary ret... |
OMIM:608629 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation |
ORPHA:85290 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Dandy-Walker m... |
OMIM:618736 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Agenesis of corpus callosum, Atten... |
OMIM:619312 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity |
ORPHA:238624 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Attention ... |
OMIM:301039 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
External genital hypoplasia, Self-mutilation, Truncal obesity, Hypogonadism, Micropenis, Decrease... |
ORPHA:3041 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Abnormal neuron morphology, Obesity, Abno... |
ORPHA:163681 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Hypospadias, Ventriculomegaly |
ORPHA:3224 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Obesity, Oral-pharyngeal dysphagia |
ORPHA:480907 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity |
ORPHA:254531 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Astigmatism, Hyperkalemia |
ORPHA:97362 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertil... |
ORPHA:478 |
Familial Dysautonomia |
|
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis |
ORPHA:1764 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy, Hypogonadism, Infertility, Oligomenorrhea, Dysphagia, Delayed menarche |
ORPHA:412057 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
Polymicrogyria Due To Tubb2B Mutation |
|
Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Abnormal temper tantrums, ... |
ORPHA:300573 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... |
OMIM:270200 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Overgrowth, Increased circu... |
OMIM:300942 |
Macrocephaly/Autism Syndrome |
|
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Overgrowth |
OMIM:605309 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Adnp Syndrome |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Truncal obesity, Compulsive behav... |
ORPHA:404448 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Self-mutilation, Micropenis, A... |
ORPHA:457240 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnormal repe... |
OMIM:600430 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Insulinoma |
|
Pituitary prolactin cell adenoma, Polyphagia, Increased body weight |
ORPHA:97279 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macular dystrophy, Abnormal retinal morphology on macular OCT, Polyphagia, Obesity |
ORPHA:251004 |
Rafiq Syndrome |
|
Truncal obesity, Obesity, Aggressive behavior |
OMIM:614202 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Bilateral cryptorchidism, Obesity, Retinal vascular tortuosity, Male hypogonadism, M... |
OMIM:619471 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Overweight, Obesity, Lateral ventricle dilatation, Agitation, Dysphagia, Decrea... |
OMIM:619229 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Decreased test... |
ORPHA:127 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Rod-cone dystrophy, Retinal degeneration |
ORPHA:166035 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Tongue thrusting |
ORPHA:77299 |
Kleefstra Syndrome 1 |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Obesity, Compulsive behaviors, Micropenis, Abno... |
OMIM:610253 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Failure to thrive, Ventriculomegaly, Hypospadias, Retinal dystrophy, Subretinal deposits, Lateral... |
ORPHA:397715 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation |
ORPHA:816 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Colpocephaly, Dysphagia, Ventriculomegaly |
ORPHA:261250 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the autonomic nervous system, ... |
ORPHA:330015 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Halperin-Birk Syndrome |
|
Optic atrophy, Pseudobulbar paralysis, Colpocephaly, Failure to thrive, Agenesis of corpus callos... |
OMIM:618651 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... |
ORPHA:813 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Polyphagia, Obesity, Optic atrophy, Ocular albi... |
ORPHA:1606 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Obesity |
ORPHA:2180 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Aggressive behavior, Partial agenesis of the corpus callosum, Obesity, Overgrowth, Agenesis of co... |
OMIM:620250 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor... |
OMIM:615219 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Dilated third ventricle, Hydrocephalus, Head-banging, Self-injurious behavior, Latera... |
OMIM:619575 |
Summitt Syndrome |
|
Obesity, Tall stature |
ORPHA:3210 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Failure to thrive in infancy |
ORPHA:284417 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Hypospadias, Lateral ventricle dilatation, Abnormal repe... |
OMIM:617751 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Hyperactivity, Cachexia, Aggressive behavior, Obesity, Hypogonadism, Decreas... |
ORPHA:85293 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Colpocephaly, Decr... |
OMIM:609053 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Truncal obesity, Hypogonadism, Attention deficit hypera... |
ORPHA:73272 |
Sotos Syndrome |
|
Ventriculomegaly, Aggressive behavior, Cryptorchidism, Partial agenesis of the corpus callosum, I... |
OMIM:117550 |
Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Partial agenesis of the corpus callosum, Lateral ventricle dilatation,... |
ORPHA:79243 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618089 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Decreased nerve conduction velocity, Cryptorchidism, Lateral ventricle dilatation, Optic disc pallor |
ORPHA:565624 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... |
OMIM:618430 |
Microtriplication 11Q24.1 |
|
Obesity, Bruxism |
ORPHA:289522 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Retinal degeneration, Ventriculomegaly |
OMIM:272200 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Crypt... |
ORPHA:193 |
Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to growth hormone ... |
ORPHA:177907 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Hypospadias, Large for gestational age, Cryptorchidism, Ventriculomegaly |
ORPHA:457485 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, External genital hypoplasia, Aggressive behavior, Cryptorchidism, Self-mutilation, ... |
ORPHA:251028 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... |
ORPHA:208447 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Optic atrophy, Lateral ventricle dilatation |
OMIM:614219 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Trichothiodystrophy |
|
Cryptorchidism, Partial agenesis of the corpus callosum, Macular degeneration, Gonadal dysgenesis... |
ORPHA:33364 |
Bardet-Biedl Syndrome 12 |
|
Hydrometrocolpos, Obesity, Hypogonadism, Rod-cone dystrophy, Vaginal atresia |
OMIM:615989 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, Obsessive-compulsive trait, Abnormal repetitive mannerisms, R... |
ORPHA:168491 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Failure to thrive, Abnormal repetitive manneri... |
ORPHA:261197 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Lateral ventricle dilatation |
OMIM:614105 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Precocious puberty, Cryptorchidism, Optic atrophy, Obesity |
OMIM:201000 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation |
OMIM:618606 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... |
OMIM:216550 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Sheehan Syndrome |
|
Dyspareunia, Orthostatic hypotension, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:91355 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle ... |
ORPHA:488627 |
Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Obesity, Weight loss, Attention deficit hyperactivity disorder |
ORPHA:251071 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Bruxism |
OMIM:615716 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Truncal obesity, Obesity |
OMIM:618363 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Angioid streaks of the fundus, Failure to thrive, Retinopathy, Retinal degeneration |
OMIM:239000 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Hypospadias, Cryptorchidism, Colpocephaly, Failure to thrive, Penile hypospadias |
OMIM:620083 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Hypospadias, Obesity |
ORPHA:439822 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:600955 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Abnormal external genitalia, Hypospadias, Aggressive behavior, Cryptorchidism,... |
OMIM:607872 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Holoprosencephaly 5 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:609637 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Pica, Obesity, Aggressive behavior |
OMIM:620191 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
White-Sutton Syndrome |
|
Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Rod-cone dystrophy, Obesity, Self-inj... |
OMIM:616364 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of... |
ORPHA:247768 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... |
ORPHA:99429 |
Aicardi-Goutieres Syndrome 9 |
|
Chorioretinal atrophy, Optic atrophy, Weight loss, Lateral ventricle dilatation, Micropenis, Fail... |
OMIM:619487 |
Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
Pseudohypoparathyroidism, Type Ic |
|
Choroid plexus calcification, Hypogonadism, Obesity |
OMIM:612462 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:203800 |
Meningioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the posterior p... |
ORPHA:2495 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity, Aggressive behavior |
OMIM:619056 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr... |
OMIM:156200 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... |
ORPHA:1435 |
Cockayne Syndrome A |
|
Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Crypto... |
OMIM:216400 |
Monosomy 13Q34 |
|
Agenesis of corpus callosum, Metrorrhagia, Obesity |
ORPHA:96168 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Failure to thrive, Polydipsia, Polyphagia |
ORPHA:525731 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Pigmentary retinopathy, Colpocep... |
OMIM:309801 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy, Obesity |
OMIM:612291 |
Pseudohypoparathyroidism, Type Ia |
|
Choroid plexus calcification, Hypogonadism, Obesity |
OMIM:103580 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Hypospadias, Cryptorchidism, Rod-cone dystrophy, Optic nerve dysplasia... |
OMIM:614866 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Obesity |
ORPHA:1035 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... |
ORPHA:98794 |
Aicardi Syndrome |
|
Retinal detachment, Precocious puberty, Chorioretinal lacunae, Partial agenesis of the corpus cal... |
OMIM:304050 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Abdominal obesity, Hypop... |
OMIM:619321 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Facial palsy |
OMIM:256850 |
Momo Syndrome |
|
Overgrowth, Obesity, Retinal coloboma |
OMIM:157980 |
Laron Syndrome |
|
Truncal obesity, Hypoplasia of penis |
ORPHA:633 |
Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Precocious puberty, Self-injurious behavior, Overgrowth, Failure to th... |
ORPHA:261652 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Impulsivity, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Tics,... |
ORPHA:157850 |
Shigellosis |
|
Hyponatremia, Corneal ulceration, Conjunctivitis, Abnormal blood ion concentration |
ORPHA:810 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Micropenis, Increased body weight, Aggressive behavior |
OMIM:300860 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Chops Syndrome |
|
Cryptorchidism, Optic atrophy, Obesity |
OMIM:616368 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Aggressive behavior, Retinal degeneration, Hypersexuality, Hydrocephalus, Optic at... |
ORPHA:581 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... |
ORPHA:90793 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Subependymal cysts, Lateral ventricle dilatation |
OMIM:610015 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Attention d... |
OMIM:616078 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pi... |
ORPHA:79282 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy, Reduced sperm motility |
OMIM:615434 |
Pituitary Apoplexy |
|
Hyponatremia, Mydriasis |
ORPHA:95613 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Increased body weight, W... |
ORPHA:905 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Retinal degeneration, Absent scrotum, Dandy-Walker malformation, Aggressive behavior |
OMIM:618479 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Attention deficit hyperactivity disorder, Impulsivity, Lateral ventricle dilatation |
OMIM:617854 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cryptorchidism, Micropenis, Truncal obesity, Ventriculomegaly |
OMIM:616541 |
Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Dilated third ventricle, Abnormal repetitive mannerisms... |
OMIM:619725 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Hydrocephalus, Rod-cone dystrophy, Abnormal sperm motility,... |
ORPHA:244 |
Momo Syndrome |
|
Large for gestational age, Obesity, Overgrowth, Chorioretinal coloboma, Tall stature |
ORPHA:2563 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:616562 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Increased body weight |
ORPHA:276608 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Slc35A2-Cdg |
|
Precocious puberty, Lateral ventricle dilatation, Failure to thrive in infancy, Dandy-Walker malf... |
ORPHA:356961 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder, Abnormality of fem... |
ORPHA:2637 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Oligomenorrhea, Pituitary adenoma, Obesity |
OMIM:219090 |
Pseudopseudohypoparathyroidism |
|
Obesity |
OMIM:612463 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:616602 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, External genital hypoplasia, Cryptorchidism, Optic atrophy, Obesity, Hypogonadism |
OMIM:614231 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration |
ORPHA:168549 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... |
OMIM:618914 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Self-injurious behavior, Hyperactivity, Lateral ventricle dilatation, Aggressive behavior |
OMIM:620075 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Obesity, Self-injurious behavior, Compulsive b... |
ORPHA:468678 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Imp... |
ORPHA:580 |
Achondroplasia |
|
Hydrocephalus, Obesity |
ORPHA:15 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Optic atrophy, Severe failure to thrive, Dandy-Walker malformation, Agenesis of ... |
ORPHA:97297 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Bainbridge-Ropers Syndrome |
|
Precocious puberty, Cryptorchidism, Self-injurious behavior, Disproportionate tall stature, Later... |
OMIM:615485 |
Werner Syndrome |
|
Hypogonadism, Retinal degeneration |
OMIM:277700 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Oligozoospermia, Az... |
ORPHA:125 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy, Colpocephaly, Dysphagia, Failure to thrive, Ventriculomegaly |
OMIM:618460 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Aggressive behavior, Lateral ventricle dilatation, Dysphagia, Rod-cone ... |
ORPHA:572798 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... |
ORPHA:90797 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
6Q Terminal Deletion Syndrome |
|
Hypospadias, Phimosis, Obesity, Colpocephaly, Failure to thrive |
ORPHA:75857 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia... |
ORPHA:167 |
Down Syndrome |
|
Aganglionic megacolon, Decreased fertility, Obesity |
ORPHA:870 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Obesity, Truncal obesity, Self-injurious behavior, Attention deficit hyperac... |
ORPHA:466950 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Obesity, Abnormality of the uterus |
ORPHA:3138 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Failure to thrive, Optic nerve hypoplasia, Dilated third ventricle, Ven... |
OMIM:615574 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Obesity, Fai... |
ORPHA:2322 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Abnormal thalamic MRI signal intensity... |
ORPHA:48818 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Aggressive behavior, Lateral ventricle dilatation, Male urethral meatus stenosis, Di... |
ORPHA:464738 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619680 |
Glutaric Acidemia I |
|
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:231670 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cryptorchidism, Lateral ventricle dilatation, Hypospadias, Failure to thrive in infancy |
OMIM:611209 |
Cystinosis, Nephropathic |
|
Hyponatremia, Corneal crystals, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Recur... |
OMIM:219800 |
Hurler Syndrome |
|
Hydrocephalus, Retinal degeneration |
OMIM:607014 |
Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
ORPHA:293964 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, H... |
ORPHA:534 |
Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
Subaortic Stenosis-Short Stature Syndrome |
|
Obesity |
ORPHA:3191 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:85138 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Tics, Compulsive behaviors, Chorioretinal coloboma, Micropenis, Abnormal repetitiv... |
OMIM:619475 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus ca... |
ORPHA:434179 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Large for gestational age, Birth length greater than 97th percentile... |
ORPHA:314588 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive in infancy, Macular atrophy, Primary amenorrhea, Failure to thrive, Agenesis of... |
OMIM:619418 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Dysphagia |
OMIM:619780 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Cog5-Cdg |
|
Cryptorchidism, Micropenis, Lateral ventricle dilatation |
ORPHA:263487 |
Monosomy 9Q22.3 |
|
Hyperactivity, Ovarian fibroma, Tall stature, Large for gestational age, Hydrocephalus, Retinopat... |
ORPHA:77301 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy |
ORPHA:436245 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Macular degeneration |
ORPHA:284289 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cache... |
ORPHA:191 |
Mody |
|
Overweight, Retinopathy, Obesity, Large for gestational age |
ORPHA:552 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelphys, Gonadal ... |
OMIM:618820 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:618291 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:466943 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Optic atrophy, Obesity |
OMIM:618493 |
Distal Deletion 12Q |
|
Hyperactivity, Unilateral cryptorchidism, Failure to thrive in infancy, Pituitary adenoma, Obesit... |
ORPHA:96149 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Testicular neoplasm, Fove... |
ORPHA:71505 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Agitation, Truncal obesity |
OMIM:610475 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal repetitive mannerisms, Partial agenesis of the corpus callosum, ... |
ORPHA:300570 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity |
OMIM:615980 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Aggressive behavior, Adrenocorticotropic h... |
ORPHA:293987 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... |
ORPHA:1001 |
Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration |
OMIM:252600 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity, Compulsive behaviors |
OMIM:618443 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Restless legs, Abnormal fundus morphology, Macular degeneration, Dysphag... |
ORPHA:94147 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity |
ORPHA:77296 |
Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Holoprosencephaly |
|
Hyponatremia, Iris coloboma |
ORPHA:2162 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Retinopathy, Obesity |
OMIM:619269 |
Angelman Syndrome |
|
Hyperactivity, Paroxysmal bursts of laughter, Obesity |
OMIM:105830 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
Noonan Syndrome 14 |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:619745 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Agitation, Secondary amenorrhea |
OMIM:610489 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Micropenis, Abnormal repetitive mannerisms, Obesity |
OMIM:618653 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... |
ORPHA:353281 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Agitation, Dysphagia |
ORPHA:2148 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity |
OMIM:615418 |
Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst, Glandular hypospadias, Abnormal preputium morp... |
ORPHA:293725 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Communicating hydrocephalus |
OMIM:244400 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive, Premature ovarian insufficiency, Decrease... |
ORPHA:79474 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Tall stature, Decreased fertility in females, Labial hypertrophy, Decreased fertility, Polycystic... |
OMIM:269700 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Distal Deletion 10Q |
|
Aggressive behavior, Facial diplegia, Lateral ventricle dilatation, Attention deficit hyperactivi... |
ORPHA:96148 |
Nephronophthisis 11 |
|
Polydipsia, Retinal degeneration |
OMIM:613550 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Irregular menstruation, Increased body weight, Abdominal obesity, Abnormal libido |
ORPHA:189427 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity, Primary amenorrhea |
ORPHA:319675 |
Gabriele-De Vries Syndrome |
|
Cryptorchidism, Lateral ventricle dilatation, Attention deficit hyperactivity disorder |
OMIM:617557 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration |
ORPHA:79244 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Decreased fertility in females, Labial hypertrophy, Polycystic ovaries, Pol... |
OMIM:608594 |
Mannosidosis, Alpha B, Lysosomal |
|
Retinal degeneration |
OMIM:248500 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Rectovaginal fistula, Obesity, Attention deficit hyperactivity disorder |
OMIM:619426 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Small for gestational age, Lateral ventricle dilatat... |
OMIM:619869 |
Insulin-Like Growth Factor I, Resistance To |
|
Truncal obesity, Agitation, Decreased body weight |
OMIM:270450 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased response to growth hormone ... |
ORPHA:226307 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98855 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Aganglionic megacolon, Retinal arteriolar tortuosity, Cryptorchidism, Hydrocephalus,... |
ORPHA:567 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:620113 |
Knobloch Syndrome |
|
Retinal detachment, Hydrocephalus, Abnormal vitreous humor morphology, Macular degeneration, Vitr... |
ORPHA:1571 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Hypospadias, Impulsivity, Aggressive behavi... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Hypospadias, Impulsivity, Aggressive behavi... |
ORPHA:353277 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... |
ORPHA:1855 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98863 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Abnormality of reproductive system physiology, Increased ... |
ORPHA:1501 |
Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98853 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Optic atrophy, Obesity |
OMIM:614947 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Retinal degeneration, Optic atrophy, Phonic tics, Pigmentary retinopathy, Dysphagi... |
OMIM:234200 |
Carney Complex |
|
Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Abnormal sperm motility, Testicular ... |
ORPHA:1359 |
Adiposis Dolorosa |
|
Obesity |
ORPHA:36397 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Abnormal repetitive mannerisms, Abnormal temper tantrums, Aggressiv... |
ORPHA:457279 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... |
OMIM:120330 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Unilateral cryptorchidism, Hypospadias, Small for gestational age, Phimosis, Aggre... |
OMIM:613406 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation |
OMIM:612301 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Overweight, Small for gestational age, Obesity |
ORPHA:26793 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... |
ORPHA:529962 |
Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... |
OMIM:264800 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hyperactivity, Small scrotum, Hypospadias, Dandy-Walker malformation, Septate vagi... |
OMIM:270400 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... |
OMIM:617260 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Colpocephaly, Chordee, Hypospadias |
ORPHA:477993 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behav... |
ORPHA:369950 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Small scrotum, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling, Polyphagia... |
OMIM:620330 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
Say-Barber-Miller Syndrome |
|
Cryptorchidism, Optic atrophy, Macular degeneration, Hypogonadism, Rod-cone dystrophy |
ORPHA:3132 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased body weight, Secondary amenorrhea, Truncal obesit... |
ORPHA:96253 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... |
ORPHA:485 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Micropenis, Retinal dystrophy, Lateral ventricle dilatation |
OMIM:263520 |
Vici Syndrome |
|
Macular atrophy, Ocular albinism, Macular hypoplasia, Dysphagia, Failure to thrive, Agenesis of c... |
OMIM:242840 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
Farber Disease |
|
Macular degeneration, Cherry red spot of the macula, Failure to thrive |
ORPHA:333 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Agitation, Increased body weight, Large for gestational age |
ORPHA:263455 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Abnormal repetitive mannerisms, Obesity, Aggressive behavior |
OMIM:301066 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Micropenis, Ventriculomegaly |
OMIM:619479 |
Perlman Syndrome |
|
Cryptorchidism, Agenesis of corpus callosum, Large for gestational age |
OMIM:267000 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Irregular menstruation, Increased body weight, Polycystic ovaries, Oligomenorrhea, ... |
ORPHA:264580 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Agitation |
OMIM:219080 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Small scrotum, Hypospadias, Cryptorchidism, Paroxysmal bursts of laughter, Optic a... |
OMIM:309580 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... |
ORPHA:247234 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Optic atrophy |
ORPHA:314404 |
Coccidioidomycosis |
|
Abnormal retinal morphology, Abnormality of the male genitalia, Hydrocephalus, Abnormal sperm mor... |
ORPHA:228123 |
Mosaic Trisomy 1 |
|
Micropenis, Penile hypospadias, Agenesis of corpus callosum, Lateral ventricle dilatation |
ORPHA:1692 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Failure to thrive, Retinal dystrophy, Macular degeneration, Rod-cone dystrophy, Ventriculomegaly,... |
OMIM:266920 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Abnormality of periphe... |
ORPHA:90324 |
Alport Syndrome |
|
Macular degeneration, Retinal flecks, Clitoral hypertrophy, Dysphagia |
ORPHA:63 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Irregular menstruation, Increased body weight, Polycystic ovaries, Oligomenorrhea |
ORPHA:79240 |
Peripartum Cardiomyopathy |
|
Obesity |
ORPHA:563 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus |
OMIM:177850 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age |
OMIM:227650 |
Fryns Syndrome |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Large for gestational age, Cryptorchidism, Bic... |
OMIM:229850 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Obesity |
ORPHA:369837 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Precocious pubert... |
ORPHA:64 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Birth length greater than 97th percentile, Lateral ventricle dilatatio... |
OMIM:300868 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Ventriculomegaly |
OMIM:301072 |
Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Hypospadias, Small for gestational age, Premature thelarche, Impulsivity, Bilatera... |
OMIM:180849 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity |
OMIM:618620 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Myhre Syndrome |
|
Cryptorchidism, Small for gestational age, Obesity |
OMIM:139210 |
Beckwith-Wiedemann Syndrome |
|
Large for gestational age, Cryptorchidism, Obesity, Gonadoblastoma, Choroideremia, Tall stature |
ORPHA:116 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... |
ORPHA:2388 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Truncal obesity, Hypospadias |
OMIM:210720 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Obesity |
ORPHA:69663 |
Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Septo-optic dysplasia |
OMIM:301043 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
3Q29 Microduplication Syndrome |
|
Obesity |
ORPHA:251038 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia majora, T... |
ORPHA:199 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Lateral ventricle dilatat... |
OMIM:210710 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Obesity, Bruxism, Agenesis of corpus callosum |
ORPHA:48652 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Failure t... |
ORPHA:2785 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
Congenital Analbuminemia |
|
Small for gestational age, Obesity |
ORPHA:86816 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
Primrose Syndrome |
|
Restlessness, Hypergonadotropic hypogonadism, Aggressive behavior, Bilateral cryptorchidism, Cryp... |
OMIM:259050 |
Genitopatellar Syndrome |
|
Small scrotum, Enlarged labia minora, Cryptorchidism, Colpocephaly, Labial hypoplasia, Dysphagia,... |
OMIM:606170 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Obesity |
ORPHA:98907 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Rod-cone dystrophy, Lateral ventricle dilatation |
OMIM:300896 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Increased circ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Increased circ... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Increased circ... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Increased circ... |
ORPHA:881 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Abnormality of peripheral nerve conduction, Weight loss |
ORPHA:79102 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity |
ORPHA:209902 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Failure to thrive |
OMIM:614098 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, Cryptorchidism, Obesity, Shawl scrotum, Micropenis |
OMIM:614976 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Obesity, Bicornuate ut... |
OMIM:181450 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... |
ORPHA:2298 |
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 |
Dysbetalipoproteinemia |
|
Obesity |
ORPHA:412 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Precocious pube... |
ORPHA:904 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Optic disc coloboma, Failure to thrive, Obesity |
OMIM:617157 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Dysphagia |
OMIM:618367 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Anorexia, Pituitary corticotropic cell adenoma, Increased body weight, Secondary amenorrhea, Weig... |
ORPHA:99889 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, ... |
ORPHA:500150 |
Digeorge Syndrome |
|
Hydrocele testis, Ovarian cyst, Obesity, Attention deficit hyperactivity disorder |
OMIM:188400 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity |
OMIM:615812 |
Gaisböck Syndrome |
|
Overweight, Obesity |
ORPHA:90041 |
Neutral Lipid Storage Myopathy |
|
Obesity, Pineal cyst |
ORPHA:98908 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Septate vagina, Cryptorchidism, Dysphagia, Hyd... |
ORPHA:261537 |
Williams-Beuren Syndrome |
|
Failure to thrive in infancy, Retinal arteriolar tortuosity, Obesity, Attention deficit hyperacti... |
OMIM:194050 |
Kabuki Syndrome 1 |
|
Premature thelarche, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Anoperineal fis... |
OMIM:147920 |
Lysinuric Protein Intolerance |
|
Truncal obesity, Failure to thrive |
OMIM:222700 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Septate vagina, Cryptorchidism, Optic atrophy,... |
ORPHA:261552 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Obesity, Hypoplastic labia majora, Aplasia of the upp... |
OMIM:601803 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Hypogonadism |
OMIM:163950 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncal obesity, Self-injurious behavior, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:612474 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity |
ORPHA:70591 |
Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Cystic Fibrosis |
|
Male infertility, Failure to thrive |
OMIM:219700 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, ... |
OMIM:619534 |