Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Obesity |
OMIM:615988 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Generalized dystonia, Optic disc pallor |
OMIM:619389 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615995 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Small for gestational age, Retinal degeneration |
OMIM:275400 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615987 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Ramon Syndrome |
|
Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Failure to thrive, Osteol... |
ORPHA:3019 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Obesity... |
ORPHA:791 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, Rod-cone dystrophy, Obesity |
OMIM:615983 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Dystonia |
OMIM:264470 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Small for gestational age, Retinal degeneration |
ORPHA:3363 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Spinocerebellar Ataxia 7 |
|
Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy, Obesity |
OMIM:245800 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Abnormality of bone mineral density |
ORPHA:3156 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Chorioretinal coloboma, U... |
ORPHA:2196 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:600151 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Intention tremor |
OMIM:266130 |
Cofs Syndrome |
|
Arthrogryposis multiplex congenita, Optic atrophy, Abnormality of retinal pigmentation, Camptodac... |
ORPHA:1466 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Failure to thrive, Osteoporosis |
OMIM:618234 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ... |
OMIM:617406 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Abnormality of retinal pigmentation, Obesity |
ORPHA:3085 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor |
OMIM:614307 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Cranial hyperostosis, Optic atrophy, Osteoporosis, Melanocyt... |
ORPHA:2801 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Multiple joint contractures, Abnormality of connective tissue, Fatigable ... |
ORPHA:370968 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone dystrophy, Retinal de... |
OMIM:615986 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity, Tall stature |
OMIM:618406 |
Bardet-Biedl Syndrome 22 |
|
Rod-cone dystrophy, Macular hypopigmentation, Obesity, Large for gestational age |
OMIM:617119 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels |
OMIM:204000 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Failure to thrive in infancy |
ORPHA:858 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:605231 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Increased adipose tissue, Obesity, Red hair, Failure to thrive, Chi... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Increased adipose tissue, Obesity, Red hair, Failure to thrive, Chi... |
ORPHA:71526 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Weight loss, Opisthotonus, Pigmentary retinopathy, Rod-c... |
ORPHA:216866 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Flexion contracture, Optic atrophy, Dystonia |
OMIM:252011 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration |
OMIM:303110 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina, Hand tremor |
ORPHA:100996 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes... |
ORPHA:1873 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Fa... |
ORPHA:5 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy |
OMIM:619473 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Limb joint contracture, Optic atrophy, Blepharospasm, Athetosis, Pigmentary re... |
OMIM:617282 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615982 |
Birt-Hogg-Dubé Syndrome |
|
Multiple lipomas, Abnormality of retinal pigmentation |
ORPHA:122 |
Leigh Syndrome |
|
Pigmentary retinopathy, Failure to thrive, Optic atrophy, Dystonia |
OMIM:256000 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy, Joint contracture of ... |
OMIM:609033 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... |
ORPHA:897 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Failur... |
OMIM:560000 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy |
ORPHA:141 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Fatigable weakness of respiratory muscles, Pigmentary retinopathy |
ORPHA:329336 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Osteoporosis, Obesity, Reduced bone mineral density, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Obesity And Hypopigmentation |
|
Red hair, Overgrowth, Obesity |
OMIM:620195 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Distal arthrogryposis, Retinal fold, Congenital finger flexi... |
OMIM:108145 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:616562 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615981 |
Ataxia With Vitamin E Deficiency |
|
Tremor, Abnormality of retinal pigmentation, Dystonia |
ORPHA:96 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Rod-c... |
OMIM:615994 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Increased bone mineral density, Lipoatrophy, Lipodystrophy, ... |
ORPHA:902 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation, Osteolysis |
ORPHA:873 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis |
ORPHA:88643 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger |
ORPHA:2521 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Enamel hypoplasia, Thickened cortex of long bones |
OMIM:253250 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Retinal dystrophy, Obesity, Macular degeneration, Rod-cone dystrophy |
OMIM:616629 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive, Flexion contracture |
OMIM:618201 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cafe-au-lait spot, Increased body weight, Hand tremor |
ORPHA:589905 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Pigmentary retinopathy, Weight loss |
ORPHA:3208 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy, Obesity |
OMIM:612291 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Dystonia, Bull's eye maculopathy, Rod-cone dystrophy, Optic atrophy, Leg dystonia, Ch... |
ORPHA:157850 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Truncal titubation, Pigme... |
ORPHA:88628 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy, Flexion contracture |
OMIM:613156 |
Bardet-Biedl Syndrome 8 |
|
Rod-cone dystrophy, Obesity |
OMIM:615985 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... |
OMIM:216550 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased body weight |
OMIM:614450 |
Cln3 Disease |
|
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy |
ORPHA:228346 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Optic atrophy, Obesity |
OMIM:614651 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... |
ORPHA:2715 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Increased body weight |
ORPHA:276608 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Obesity |
OMIM:601794 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling, Rickets |
OMIM:219900 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Tremor, Blepharospasm, Macular degeneration, Dy... |
ORPHA:48818 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Obesity |
ORPHA:363741 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis |
ORPHA:1496 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Leukodystrophy, Hypomyelinating, 13 |
|
Joint contracture, Exaggerated startle response, Failure to thrive, Optic atrophy |
OMIM:616881 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Dystonia |
OMIM:614105 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rickets, Rod-cone dyst... |
OMIM:268315 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Small for gestational age, Limb joint contracture, Ac... |
ORPHA:404454 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis, Increased body weight, Dorsocervical fat pad |
OMIM:615830 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... |
ORPHA:1493 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy |
OMIM:609541 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy, Obesity |
ORPHA:110 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Camptodactyly... |
OMIM:214110 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Atten... |
ORPHA:8 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy |
ORPHA:320406 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Failure to thrive |
OMIM:600462 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Fatigable weakness of swallowing muscles, Failure to thrive, Optic atrophy |
ORPHA:436271 |
Lowry-Wood Syndrome |
|
Elbow flexion contracture, Pigmentary retinopathy, Small for gestational age |
OMIM:226960 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Epiphyseal stippling, Small for gestational age, Increased body weight |
OMIM:274300 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Overgrowth |
OMIM:300607 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Optic... |
ORPHA:193 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Truncal obesity, Hyperostosis frontalis interna, Pigmentary retinopathy |
OMIM:203800 |
Wolfram Syndrome 1 |
|
Tremor, Pigmentary retinopathy, Optic atrophy |
OMIM:222300 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Tremor, Optic disc pallor, Pigmentary retinopathy, Lipoma |
ORPHA:502423 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Osteoporosis, Optic atrophy, Disproporti... |
ORPHA:394 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Cockayne Syndrome Type 1 |
|
Foot joint contracture, Scarring, Hypermelanotic macule, Tremor, Optic atrophy, Pigmentary retino... |
ORPHA:90321 |
Myopathy, Mitochondrial, And Ataxia |
|
Tremor, Multiple lipomas, Pigmentary retinopathy |
OMIM:617675 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Osteoporosis, Increased body weight |
OMIM:615954 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis |
ORPHA:2163 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Albinism, Large for gestational age, Hypopigmentation of the fundus |
OMIM:600501 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy, Failure to thrive, Small for gestational age |
OMIM:609015 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Pigmentary retinopathy |
ORPHA:79095 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:773 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock, Reduced bone mineral density |
ORPHA:742 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Joint contracture, Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia |
OMIM:617864 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Vestibular areflexia, Abnormal dental enamel morphology |
ORPHA:886 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Flexion contracture, Umbilical... |
OMIM:309900 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... |
OMIM:209900 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Brushfield spots, Rod-cone dystrophy, Optic nerve dysplasia, Optic atr... |
OMIM:614866 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Pigmentary retinopathy |
OMIM:612582 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... |
ORPHA:1969 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:192 |
Micro Syndrome |
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Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma |
ORPHA:2510 |
Smith-Magenis Syndrome |
|
Retinal detachment, Increased body weight |
OMIM:182290 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Tremor, Retinal pigment ep... |
OMIM:216400 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Tremor, Hypophosphatemic rickets, Increased body weight, Large for gestational age |
ORPHA:263455 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Gm2 Gangliosidosis, Ab Variant |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Cockayne Syndrome B |
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Reduced subcutaneous adipose tissue, Small for gestational age, Tremor, Osteoporosis, Optic atrop... |
OMIM:133540 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormality of retinal pigmentation, Optic disc pallor, Reti... |
ORPHA:191 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Decreased body weight |
ORPHA:96180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Pigmentary retinopathy, Failure to thrive, Optic atrophy |
OMIM:220110 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Optic disc pallor, Brushfield spots, Epiphyseal stippling, Pigmentary retinopathy, Failure to thrive |
OMIM:214100 |
Trisomy 18 |
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Omphalocele, Abnormality of retinal pigmentation, Camptodactyly of finger, Congenital diaphragmat... |
ORPHA:3380 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Lipo... |
ORPHA:79474 |
Aicardi Syndrome |
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Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Optic disc coloboma, Opti... |
ORPHA:50 |
Leber Congenital Amaurosis 15 |
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Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Hyperekplexia 2 |
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Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Multiple Sulfatase Deficiency |
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Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:585 |
Hyperekplexia 3 |
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Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
Chromosome 16Q12 Duplication Syndrome |
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Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Hyperekplexia 1 |
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Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Spotty hypopigmentation, Increased body weight |
OMIM:300860 |
Glycine Encephalopathy With Normal Serum Glycine |
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Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Op... |
OMIM:617301 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Mucopolysaccharidosis Type 3 |
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Craniofacial hyperostosis, Inguinal hernia, Flexion contracture, Optic atrophy, Reduced bone mine... |
ORPHA:581 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Flexion contracture, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Abetalipoproteinemia |
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Osteopenia, Abnormality of retinal pigmentation, Failure to thrive, Rod-cone dystrophy, Hypopigme... |
ORPHA:14 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Abnormality of retinal pigmentation, Tremor, Tongue tremor, Joint contracture of the hand, Congen... |
ORPHA:466768 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy, Failure to thrive in infancy |
ORPHA:746 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Cartilage-Hair Hypoplasia |
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Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Failure to thrive, Abnormal b... |
ORPHA:175 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Failure to thrive |
ORPHA:71212 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Pigmentary retinopathy, Failure to thrive |
OMIM:277400 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Enamel hypoplasia, Pigmentary retinopathy, Vitiligo |
OMIM:240300 |
Neuromuscular Oculoauditory Syndrome |
|
Chorioretinal lacunae, Wrist flexion contracture, Retinal pigment epithelial mottling, Knee flexi... |
OMIM:618733 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Abnormal foveal morphology, Op... |
ORPHA:580 |
Insulinoma |
|
Tremor, Increased body weight |
ORPHA:97279 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Abnorm... |
ORPHA:744 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Abnormal dental enamel morphology, Congen... |
ORPHA:2556 |
Stiff-Person Syndrome |
|
Vitiligo, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Tremor, Large clumps of pigment ir... |
ORPHA:167 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Failure to thrive, Optic atrophy, Pigmentary retinopathy, Dystonia, Rod-cone dystrophy |
ORPHA:255210 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Optic atrophy, Contractures of the large joints, Dystonia, Failure ... |
ORPHA:521426 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Fai... |
ORPHA:79282 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Flexion contracture, Optic atrophy, Retinal dys... |
OMIM:253800 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, Hernia |
ORPHA:505248 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... |
ORPHA:636 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Magel2-Related Prader-Willi-Like Syndrome |
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Osteopenia, Hypopigmentation of hair, Flexion contracture, Osteoporosis, Increased body weight, A... |
ORPHA:398069 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Failure to thrive, Rickets |
ORPHA:411629 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy, Joint contracture, Failure to thrive, Corneal scarring |
OMIM:618460 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... |
ORPHA:790 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Limb joint contracture |
OMIM:620327 |
Melas |
|
Pigmentary retinopathy, Failure to thrive, Optic atrophy, Vitiligo |
ORPHA:550 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Exaggerated startle response, Failure to thrive, Optic atrophy |
OMIM:617527 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperpigmentation of the skin, Tremor, Optic atrophy, Blepharospasm, Choreoathetosis, Pigmentary ... |
OMIM:234200 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Failure to thrive in infancy, Retinopathy, Retinal pigment epithelial m... |
OMIM:219800 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Camptodactyly |
OMIM:614230 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnor... |
ORPHA:217085 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling, Weight loss |
OMIM:607459 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnor... |
ORPHA:217093 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Osteoporosis, Increased body weight, Dorsocervical fat pad |
ORPHA:189427 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia |
OMIM:615574 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Cherry red spot of the macula, Lar... |
ORPHA:845 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Exaggerated startle response, Abnormal odontoid tissue morphology,... |
ORPHA:79255 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, We... |
ORPHA:91500 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Decreased body weight |
OMIM:266270 |
Joubert Syndrome 39 |
|
Overweight, Retinal dystrophy, Joint contracture of the 5th finger |
OMIM:619562 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Sotos Syndrome |
|
Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Reduced subcutaneous adipose tissue, Lipoatrophy, Camptodactyly of finger, Increased ... |
ORPHA:3455 |
Sandhoff Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Inguinal hernia, Enamel hypoplasia |
OMIM:272460 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Cushing Disease |
|
Dorsocervical fat pad, Fatiguable weakness of proximal limb muscles, Osteoporosis, Increased body... |
ORPHA:96253 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Osteoporosis, Increased body weight |
ORPHA:264580 |
Hardikar Syndrome |
|
Umbilical hernia, Failure to thrive, Osteoporosis, Pigmentary retinopathy |
OMIM:301068 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Osteoporosis, Increased body weight |
ORPHA:79240 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... |
ORPHA:99226 |
Nijmegen Breakage Syndrome |
|
Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo |
OMIM:251260 |
Pearson Syndrome |
|
Pigmentary retinopathy, Cafe-au-lait spot, Small for gestational age, Hyperpigmentation of the skin |
ORPHA:699 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Congenital diaphragmatic hernia |
OMIM:309801 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Failure to thrive, Chorioretinal atrophy |
OMIM:118450 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Optic disc pallor, Exaggerated startle response, Osteoporosis, Dystonia, Uterine prol... |
ORPHA:438213 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Dorsocervical fat pad, Fatiguable weakness of proximal limb muscles, Osteoporosis, Increased body... |
ORPHA:99889 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Carney Complex |
|
Dorsocervical fat pad, Increased body weight, Abdominal obesity, Multiple lentigines, Multiple ca... |
ORPHA:1359 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Dystonia |
OMIM:620094 |