Leptin Receptor Deficiency |
|
Polyphagia, Abnormal eating behavior, Abnormal hypothalamus morphology, Decreased response to gro... |
OMIM:614963 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Rod-cone dystrophy, Hypogonadism, Macular hypopigmentation, Large for gestational age... |
OMIM:617119 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Tall stature, Obesity |
OMIM:618406 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Obesity And Hypopigmentation |
|
Polyphagia, Overgrowth, Obesity |
OMIM:620195 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Hypogonadism, Primary amenorrhea, Obesity |
OMIM:614962 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Hypogonadism, Obesity |
OMIM:615988 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... |
OMIM:615990 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Failu... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Failu... |
ORPHA:71526 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Retinal degeneration, Irregular menstruation, Polydipsia, Bone spicu... |
OMIM:615986 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar |
OMIM:615439 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity |
OMIM:613886 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal dystrophy |
OMIM:615987 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy |
OMIM:136550 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity |
ORPHA:329249 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Rod-cone dystrophy, Macular dystrophy, Obesity |
OMIM:615983 |
Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
Parastremmatic Dwarfism |
|
Scoliosis, Kyphosis, Short neck |
OMIM:168400 |
Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Obesity, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... |
OMIM:616188 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Morm Syndrome |
|
Retinal dystrophy, Truncal obesity, Hyperactivity, Retinal atrophy |
ORPHA:75858 |
Macular Dystrophy, Vitelliform, 2 |
|
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration |
OMIM:153700 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder, Obesity |
ORPHA:369873 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Scoliosis, Kyphosis, Short neck |
ORPHA:2744 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Cone-Rod Dystrophy 22 |
|
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... |
OMIM:619531 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... |
ORPHA:85128 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adren... |
OMIM:609734 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Carcinoma Of Esophagus |
|
Dysphagia, Weight loss, Obesity |
ORPHA:70482 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Decreased body weight, Failure to thrive |
OMIM:620085 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Obesity |
OMIM:616521 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy |
OMIM:609923 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
Craniopharyngioma |
|
Polyphagia, Hypopituitarism, Increased circulating prolactin concentration, Abnormal hypothalamus... |
ORPHA:54595 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Decreased thyroid-stimulating hormone level, Hyperactivity, Weight loss |
OMIM:275000 |
Temple Syndrome |
|
Polyphagia, Small for gestational age, Decreased response to growth hormone stimulation test, Obe... |
ORPHA:254516 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal degeneration |
OMIM:615982 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
Oliver-Mcfarlane Syndrome |
|
Small for gestational age, Pigmentary retinopathy, Decreased response to growth hormone stimulati... |
OMIM:275400 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Bardet-Biedl Syndrome 16 |
|
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal degeneration |
OMIM:615993 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
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 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Obesity |
ORPHA:411515 |
Pick Disease Of Brain |
|
Polyphagia, Disinhibition |
OMIM:172700 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... |
ORPHA:75377 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Hypergonadotropic hypogonadism, Pituitar... |
ORPHA:66628 |
Wagner Vitreoretinopathy |
|
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... |
OMIM:143200 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia, Hypopituitarism, Elevated circulating growth hormone concentration, Increased circula... |
OMIM:300942 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal degeneration |
OMIM:615981 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Hype... |
ORPHA:40 |
X-Linked Acrogigantism |
|
Polyphagia, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality of op... |
ORPHA:300373 |
Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Overweight, Retinal atrophy, Cone/cone-rod dystrophy, Hyperautofluoresce... |
OMIM:617406 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity |
ORPHA:171829 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Hypergonadotropic hypogonadism, Pituitar... |
ORPHA:179494 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition |
OMIM:600274 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:610359 |
Huntington Disease |
|
Polyphagia, Abnormal libido, Decreased body mass index, Agitation, Disinhibition, Alcoholism, Ora... |
ORPHA:399 |
Dystonia 30 |
|
Hypothalamic hamartoma, Impulsivity |
OMIM:619291 |
Gangliocytoma |
|
Polyphagia, Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, ... |
ORPHA:251937 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... |
OMIM:600138 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Short neck, Kyphosis, Squared-off platyspondyly, Back pain, Intervertebral space narro... |
OMIM:271530 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
Macular Degeneration, Age-Related, 1 |
|
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... |
OMIM:603075 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Large for gestational age, Agitation |
ORPHA:276556 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Small for gestational age, Large for gestational age, Agitation |
ORPHA:324575 |
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 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:611225 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Bulimia, Overweight, Obesity |
OMIM:614651 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia, Early spermatogenesis maturation... |
OMIM:617960 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Polyphagia, Large for gestational age, Agitation |
ORPHA:276575 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... |
OMIM:618144 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Non Rare In Europe: Central Precocious Puberty |
|
Overgrowth, Hypothalamic hamartoma, Increased circulating gonadotropin level, Increased body weig... |
ORPHA:759 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Large for gestational age, Agitation |
ORPHA:276580 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Retinitis Pigmentosa 73 |
|
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... |
OMIM:616544 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity |
ORPHA:171706 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity |
ORPHA:85274 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619528 |
Schaaf-Yang Syndrome |
|
Polyphagia, Hypogonadism, Failure to thrive in infancy, Impulsivity, Obesity |
OMIM:615547 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Decreased response to growth hormone stimulation test, Failure to thrive, Hypergonado... |
OMIM:606407 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy |
OMIM:610156 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Scoliosis, Short neck, Kyphosis, Spinal rigidity, Hyperlordosis |
OMIM:300718 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... |
OMIM:617871 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro... |
OMIM:609813 |
Retinitis Pigmentosa 4 |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613731 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly |
ORPHA:93304 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy |
OMIM:615725 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
Spermatogenic Failure 30 |
|
Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility |
OMIM:618110 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Cystoid macular degeneration, Retinal degeneration |
OMIM:267760 |
Cortisone Reductase Deficiency 1 |
|
Oligomenorrhea, Obesity, Infertility |
OMIM:604931 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Polyphagia, Primary amenorrhea, Hypogonadism, Chorioretinal hypopigmentation, Small pituitary gla... |
ORPHA:398079 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Dysphagia, Decreased thalamic volume, Failure to thrive |
OMIM:613668 |
Retinitis Pigmentosa 38 |
|
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy |
OMIM:613862 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity, Choroideremia, Chorioretinal atrophy, Chorioretinal degeneration |
OMIM:303110 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Retinal degeneration, Optic atrophy, Reduced sperm motility, Rod-cone dy... |
OMIM:602271 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Bardet-Biedl Syndrome 7 |
|
Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615984 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Dysphagia, Obesity, Macular degeneration, Retinal degeneration |
OMIM:604360 |
Luscan-Lumish Syndrome |
|
Polyphagia, Irregular menstruation, Overgrowth, Obesity |
OMIM:616831 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:204200 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Overweight, Retinal degeneration, Dysphagia, Obesity |
ORPHA:2822 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... |
OMIM:619007 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Hypogonadism, Cone/cone-rod dystrophy, Retinal degeneration, Polydipsia, Bone sp... |
OMIM:615994 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Bardet-Biedl Syndrome 8 |
|
Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615985 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Vitelliform-like macular lesions, Macular dystrophy, Drusen, Choroidal neovascul... |
OMIM:608161 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Hypoplasia of the ovary, Primary amenorrhea, Obesity, Pigmentary retinopathy,... |
ORPHA:2235 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Obesity |
OMIM:240900 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:613464 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Oligospermia, Obesity |
OMIM:615703 |
Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:615538 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal coloboma |
OMIM:601794 |
Achromatopsia |
|
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... |
ORPHA:49382 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Kyphoscoliosis, Thoracolumbar kyphosis |
OMIM:236660 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... |
ORPHA:41751 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Macular degeneration, Optic atrophy, Retinal degeneration |
OMIM:256730 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Insulinoma |
|
Polyphagia, Pituitary prolactin cell adenoma, Increased body weight |
ORPHA:97279 |
Xq27.3Q28 Duplication Syndrome |
|
Premature ovarian insufficiency, Failure to thrive, Hypogonadism, Truncal obesity |
ORPHA:261483 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Hypogonadism, Obesity |
ORPHA:363741 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Attention deficit hyperactivity disorder, Obesity |
OMIM:613670 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:601718 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Cone-Rod Dystrophy 16 |
|
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... |
OMIM:614500 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration, Restlessness, Agitation |
OMIM:300438 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... |
OMIM:618826 |
Spinocerebellar Ataxia 7 |
|
Dysphagia, Pigmentary retinopathy, Macular degeneration, Optic atrophy |
OMIM:164500 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Man1B1-Cdg |
|
Polyphagia, Truncal obesity |
ORPHA:397941 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Obesity |
OMIM:618725 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Tall stature, Attention deficit hyperactivity disorder, Oligospermia, Male infertility |
ORPHA:3000 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... |
OMIM:613750 |
Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Amenorrhea, Obesity |
OMIM:184700 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Polyphagia, Primary amenorrhea, Hypogonadism, Chorioretinal hypopigmentation, Small pituitary gla... |
ORPHA:398069 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Abnormal retinal morphology on macular OCT, Macular dystrophy, Obesity |
ORPHA:251004 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:617404 |
2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Hyperactivity |
ORPHA:228402 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Bethlem Myopathy 2 |
|
Scoliosis, Kyphosis |
OMIM:616471 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:616108 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Attention deficit hyperactivity disorder, Optic disc... |
OMIM:618195 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Kyphosis |
ORPHA:1875 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Attention deficit hyperactivity disorder, Interhypothalamic adhesion, Impulsivity |
OMIM:618929 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity, Retinal dystrophy |
OMIM:616756 |
Sandhoff Disease |
|
Hepatomegaly, Kyphosis, Splenomegaly |
ORPHA:796 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Bardet-Biedl Syndrome 19 |
|
Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615996 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Hypogonadism, Macular degeneration, Rod-cone dystrophy, Obesity |
OMIM:616629 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:101075 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... |
ORPHA:98754 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Decreased response to growth hormone stimulation test, Abdominal obesity, Anteri... |
OMIM:618160 |
Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
Retinitis Pigmentosa |
|
Hypogonadism, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic at... |
ORPHA:791 |
Mehmo Syndrome |
|
Male hypogonadism, Small for gestational age, Decreased response to growth hormone stimulation te... |
OMIM:300148 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Alexander Disease Type I |
|
Dysphagia, Abnormal thalamic MRI signal intensity, Cachexia, Failure to thrive |
ORPHA:363717 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypogonadism, Obesity |
ORPHA:141333 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... |
ORPHA:98793 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis |
OMIM:300434 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:618220 |
Duplication Of The Pituitary Gland |
|
Decreased body weight, Abnormal hypothalamus morphology, Congenital stationary night blindness, A... |
ORPHA:314621 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... |
ORPHA:177904 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Optic disc pallor, Focal T2 hyperintense thalamic lesion, Retinal degener... |
ORPHA:79264 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... |
ORPHA:177901 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity |
OMIM:300209 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Obesity |
OMIM:264120 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Drusen, Choroidal neovascularization |
OMIM:608895 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy, Obesity |
OMIM:245800 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Hypogonadism, Obesity |
ORPHA:2233 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy |
OMIM:613660 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema |
OMIM:180104 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Mehmo Syndrome |
|
Obesity, Agitation |
ORPHA:85282 |
Achromatopsia 7 |
|
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Oligospermia, Coiled sperm flagella, Absent sperm flagella, Male ... |
OMIM:618433 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Scoliosis, Kyphosis |
ORPHA:1548 |
Angelman Syndrome |
|
Polyphagia, Hyperactivity, Optic disc pallor, Dysphagia, Delayed menarche, Optic atrophy, Obesity |
ORPHA:72 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Immunodeficiency 61 |
|
Attention deficit hyperactivity disorder, Obesity |
OMIM:300310 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity |
ORPHA:3055 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:600151 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
Wagro Syndrome |
|
Polyphagia, Obesity, Agitation |
OMIM:612469 |
Prader-Willi-Like Syndrome |
|
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... |
ORPHA:398073 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity |
ORPHA:444002 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... |
OMIM:617304 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:618613 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Prader-Willi Syndrome |
|
Polyphagia, Oligomenorrhea, Primary amenorrhea, Failure to thrive in infancy, Attention deficit h... |
OMIM:176270 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Prader-Willi Syndrome |
|
Polyphagia, Primary amenorrhea, Hypogonadism, Attention deficit hyperactivity disorder, Small pit... |
ORPHA:739 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Pediatric-Onset Graves Disease |
|
Polyphagia, Polydipsia, Hyperactivity, Failure to thrive |
ORPHA:525731 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Secondary Short Bowel Syndrome |
|
Polyphagia, Weight loss, Failure to thrive |
ORPHA:95427 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scoliosis, Cryptorchidism, Scheuermann-like vertebral changes, Kyphosis, Cervical spinal canal st... |
OMIM:301900 |
Leber Congenital Amaurosis 9 |
|
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... |
OMIM:608553 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Polyphagia, Disinhibition, Agitation |
OMIM:607485 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy |
OMIM:604393 |
Obsolete: Early-Onset Schizophrenia |
|
Polyphagia, Restlessness, Decreased male libido, Decreased female libido, Attention deficit hyper... |
ORPHA:96369 |
Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism, Kyphosis, Short neck |
OMIM:618393 |
Weismann-Netter Syndrome |
|
Scoliosis, Kyphosis, Horizontal sacrum |
OMIM:112350 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Small for gestational age, Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Chung-Jansen Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617991 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis |
ORPHA:276630 |
Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Scoliosis, Kyphosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Rod-cone dystrophy, Retinal dystrophy |
ORPHA:261222 |
Perrault Syndrome 4 |
|
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Inc... |
OMIM:615300 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Obesity, Secondary amenorrhea, Hypergonadotropic hypogonadism, Abnormality of retinal pigmentation |
ORPHA:3085 |
Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... |
OMIM:617460 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis |
OMIM:618234 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dysphagia, Thalamic calcification |
OMIM:618317 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... |
ORPHA:364055 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Attention deficit hyperactivity disorder, Retinal degeneration, Failure to thrive, Optic atrophy,... |
ORPHA:442835 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
O'Donnell-Luria-Rodan Syndrome |
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Prolonged neonatal jaundice, Cryptorchidism, Kyphosis |
OMIM:618512 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Obesity, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Nephronophthisis 14 |
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Retinal degeneration |
OMIM:614844 |
Retinitis Pigmentosa 10 |
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Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:180105 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
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Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy |
OMIM:615147 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
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Scoliosis, Kyphosis |
ORPHA:3454 |
Cone-Rod Dystrophy 21 |
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Macular atrophy, Retinal dystrophy |
OMIM:616502 |
Intellectual Developmental Disorder, X-Linked 107 |
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Attention deficit hyperactivity disorder, Hyperactivity, Obesity |
OMIM:301013 |
Isochromosomy Yq |
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Azoospermia, Male infertility |
ORPHA:98798 |
Ring Chromosome Y Syndrome |
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Female infertility, Azoospermia, Streak ovary, Male infertility, Abnormal spermatogenesis, Male h... |
ORPHA:261529 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Hyperactivity, Obesity |
ORPHA:397973 |
Panhypophysitis |
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Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Decreased ... |
ORPHA:95513 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
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Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
Oguchi Disease |
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Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness |
ORPHA:75382 |
Pseudohypoparathyroidism Type 1C |
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Polyphagia, Oligomenorrhea, Decreased response to growth hormone stimulation test, Hypergonadotro... |
ORPHA:79444 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Retinal degeneration |
OMIM:256731 |
Sjogren-Larsson Syndrome |
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Macular degeneration, Retinal thinning, Macular dots, Macular crystals, Retinal pigment epithelia... |
OMIM:270200 |
Spermatogenic Failure 77 |
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Elevated circulating follicle stimulating hormone level, Azoospermia, Multiflagellar spermatozoa,... |
OMIM:620103 |
Retinitis Pigmentosa 41 |
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Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... |
OMIM:612095 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
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Kyphosis |
OMIM:620007 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Kyphosis |
OMIM:618392 |
Dietary Iron Overload Disease |
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Peritonitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly,... |
ORPHA:139507 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
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Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... |
OMIM:145350 |
Mitochondrial Myopathy And Sideroblastic Anemia |
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Scoliosis, Kyphosis |
ORPHA:2598 |
Alg6-Cdg |
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Rod-cone dystrophy, Failure to thrive, Retinal degeneration |
ORPHA:79320 |
Spermatogenic Failure 14 |
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Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:615842 |
Spermatogenic Failure, X-Linked, 4 |
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Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:301077 |
Mucolipidosis Iv |
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Optic atrophy, Retinal degeneration |
OMIM:252650 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Primary amenorrhea, Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis... |
OMIM:619737 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
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Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonadism |
OMIM:300869 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Decreased fertility, Eunuchoid habitus, Hypogonadism, Obesity |
ORPHA:2234 |
Perlman Syndrome |
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Cryptorchidism, Hepatomegaly, Abnormal pancreas morphology |
ORPHA:2849 |
Clark-Baraitser Syndrome |
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Hyperactivity, Obesity |
OMIM:617752 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
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Disinhibition, T2 hypointense thalamus |
OMIM:618193 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Scoliosis, Kyphosis, Cryptorchidism, Short neck |
ORPHA:178148 |
Kleefstra Syndrome 2 |
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Scoliosis, Kyphosis |
OMIM:617768 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
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Oral-pharyngeal dysphagia, Obesity |
ORPHA:480907 |
Hsd10 Disease, Infantile Type |
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Restlessness, Retinal degeneration, Dysphagia, Optic atrophy, Rod-cone dystrophy |
ORPHA:391428 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Growth Hormone Insensitivity Syndrome |
|
Truncal obesity, Hypogonadism, Failure to thrive |
ORPHA:181393 |
Spermatogenic Failure 28 |
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Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618086 |
Cdkl5-Deficiency Disorder |
|
Scoliosis, Kyphosis |
ORPHA:505652 |
Bardet-Biedl Syndrome 6 |
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Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:605231 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Kyphosis, Platyspondyly |
OMIM:313420 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2429 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Rod-cone dystrophy, Obesity |
OMIM:615633 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
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Congenital stationary night blindness, Obesity |
ORPHA:352530 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Retinal atrophy, Rod-cone dystrophy, Neonatal death |
OMIM:610127 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular atrophy, Optic disc pallor, Retinal degeneration, Macular coloboma, Attenuation of retina... |
OMIM:619260 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613617 |
Spermatogenic Failure 6 |
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Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Scoliosis, Kyphosis, Cryptorchidism, Short neck |
OMIM:611890 |
48,Xxyy Syndrome |
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Attention deficit hyperactivity disorder, Hypergonadotropic hypogonadism, Infertility, Tall statu... |
ORPHA:10 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
47,Xyy Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder, Tall stature, Azoospermia, Increased cir... |
ORPHA:8 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
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Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility |
OMIM:108420 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1858 |
Retinitis Punctata Albescens |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy... |
ORPHA:52427 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
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Truncal obesity, Hyperactivity |
OMIM:613192 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613581 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Obesity |
OMIM:618124 |
Poretti-Boltshauser Syndrome |
|
Retinal dystrophy, Retinal thinning, Retinal atrophy |
OMIM:615960 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Truncal obesity, Bone spicule pigmentation of the retina, At... |
OMIM:617547 |
Exudative Vitreoretinopathy 6 |
|
Retinal exudate, Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal... |
OMIM:616468 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced circulating prolactin concentration, Overweight, Inappropriately normal thyroid-stimulati... |
OMIM:300888 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Kyphosis |
ORPHA:99014 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:85317 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Pseudohypoparathyroidism Type 1A |
|
Polyphagia, Oligomenorrhea, Decreased response to growth hormone stimulation test, Hypergonadotro... |
ORPHA:79443 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Scoliosis, Lumbar hyperlordosis, Short neck, Kyphosis, Hump-shaped mound of bone in central and p... |
OMIM:313400 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Truncal obesity |
ORPHA:2928 |
Metatropic Dysplasia |
|
Scoliosis, Kyphosis, Hypoplastic cervical vertebrae, Abnormal intervertebral disk morphology, Abn... |
ORPHA:2635 |
Hall-Riggs Mental Retardation Syndrome |
|
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates |
OMIM:234250 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Abnormal hypothalamus morphology |
ORPHA:68 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Tall stature, Hyperactivity, Obesity |
OMIM:618089 |
Wilson-Turner Syndrome |
|
Truncal obesity, Hypogonadotropic hypogonadism |
ORPHA:3459 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity |
OMIM:610628 |
Brachyolmia Type 3 |
|
Platyspondyly, Scoliosis, Kyphosis, Short neck |
OMIM:113500 |
Vitreoretinal Degeneration, Snowflake Type |
|
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Obesity |
ORPHA:3077 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Scoliosis, Kyphoscoliosis, Kyphosis, Cryptorchidism |
OMIM:618484 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... |
ORPHA:67042 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Summitt Syndrome |
|
Tall stature, Obesity |
ORPHA:3210 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:249270 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Retinal degeneration |
OMIM:615630 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Polyphagia |
OMIM:156200 |
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 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Scoliosis, Hyperlordosis, Short neck |
OMIM:252605 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Polyphagia, Restlessness |
ORPHA:251028 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|