| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
| Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Prostatic Hyperplasia, Benign |
|
Benign prostatic hyperplasia |
OMIM:600082 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Micropenis, Cryptorchidism |
OMIM:202150 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
| Mental Retardation, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... |
OMIM:615542 |
| Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Precocious puberty, Long penis |
ORPHA:3000 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
| Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size, Microphallus |
OMIM:614840 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Cryptorchidism, Decreased te... |
ORPHA:1646 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Non-obstructive azoospermia |
OMIM:619528 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Babinski sign, Retinal degeneration, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia |
OMIM:619145 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Microphthalmia, Retinal dysplasia |
OMIM:615771 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight, Chorioretinal degeneration |
OMIM:616311 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Decreased testicular size, Azoospermia |
ORPHA:98797 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Clonus, Lack of facial subcutaneous fat, Loss of subcutaneo... |
OMIM:606721 |
| Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
| Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
| Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus, Retinal degeneration |
OMIM:204500 |
| Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Myoclonus, Macular degeneration, Ataxia, Flexion contracture... |
OMIM:256730 |
| Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... |
OMIM:608051 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Gait disturbance, Ataxia, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
| Morm Syndrome |
|
Hyperactivity, Retinal dystrophy, Retinal atrophy, Truncal obesity |
ORPHA:75858 |
| Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
| Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
| Laurence-Moon Syndrome |
|
Spastic paraplegia, Ataxia, Pigmentary retinopathy |
OMIM:245800 |
| Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... |
OMIM:616425 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Mental Retardation, Autosomal Dominant 51 |
|
Cryptorchidism |
OMIM:617788 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
| Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
| Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Decreased testicular size, Cryptorchidism |
OMIM:146110 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Retinal degeneration, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis |
OMIM:256731 |
| Doyne Honeycomb Retinal Dystrophy |
|
Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Pigmentary retinopathy |
OMIM:614307 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Cryptorchidism |
OMIM:264600 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
| Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Retinal pigment epithelial mottling, Lower limb spasticity, Ataxia, Inability ... |
OMIM:619389 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Knee clonus, Retinal degeneration, Spastic gait, Lower limb spasticity, Macular de... |
OMIM:604360 |
| Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration |
OMIM:153700 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Small for gestational age, Pigmentary retinopathy |
OMIM:275400 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia, Failure to thrive, Tetraplegia, Hyperactivity, Hypertonia, Lethargy |
OMIM:274270 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Micropenis, Decreased testicular size, Cryptorchidism |
OMIM:616030 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
| Bardet-Biedl Syndrome 13 |
|
Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal bloo... |
OMIM:615990 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
| Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
| Bardet-Biedl Syndrome 16 |
|
Obesity, Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Ataxia, Abnormality of retinal pigmentation |
ORPHA:2579 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... |
ORPHA:85128 |
| Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Microphthalmia |
OMIM:616335 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dystonia, Optic atrophy, Hepatomegaly, Babinski sign, Rod-cone dystrophy, Diffuse hepatic steatos... |
OMIM:264470 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Ataxia, Retinal degeneration, Spasticity |
OMIM:225755 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Ataxia, Macular degeneration |
ORPHA:85334 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size |
OMIM:614858 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation, Ankle clonus |
OMIM:145290 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Spasticity, Retinal degeneration, Rigidity |
OMIM:616211 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Pigmentary retinopathy, Ataxia, Optic atrophy, Retinopathy |
OMIM:610951 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy |
OMIM:605670 |
| Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Ma... |
OMIM:164500 |
| Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
| Persistent Placoid Maculopathy |
|
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... |
ORPHA:97341 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
| Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Babinski sign, Waddling gait, Spasticity, Pigmentary retinopathy |
OMIM:619090 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
| Alg6-Cdg |
|
Retinal degeneration, Failure to thrive, Rod-cone dystrophy, Abnormality of the liver, Ataxia, Ja... |
ORPHA:79320 |
| 46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism |
OMIM:614279 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Pigmentary retinopathy |
OMIM:609016 |
| Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
| Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration, Giant cell hepatitis, Cholelithiasis, Ataxia, Camptodactyly ... |
OMIM:214980 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spasticity, Babinski sign, Hyporeflective spaces on macular OCT, Retinal pigment epit... |
ORPHA:506353 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Azoospermia, Hypogonadotropic hypogo... |
ORPHA:52901 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic paraplegia |
OMIM:236130 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Small scrotum, Urogenital sinus anomaly, Ambiguous genitalia, male, Ambiguous geni... |
ORPHA:753 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
| 47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... |
ORPHA:8 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Abnormality... |
OMIM:251270 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... |
ORPHA:457083 |
| Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... |
OMIM:617406 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Splenomegaly |
OMIM:602271 |
| Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Ataxia, Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
| Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Arthrogryposis multiplex cong... |
ORPHA:1466 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Optic atrophy, Retinal degeneration, Limb hypertonia, Rigidity, Failure to... |
ORPHA:442835 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Nephronophthisis 15 |
|
Obesity, Retinal degeneration, Hepatic failure |
OMIM:614845 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Microphthalmia, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone s... |
OMIM:611040 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hepatomegaly, Myoclonus, Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia, Tetrapare... |
OMIM:615924 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| Bardet-Biedl Syndrome 4 |
|
Obesity, Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy |
OMIM:616171 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Microphthalmia, Retinal degeneration, Cystoid macular degeneration |
OMIM:267760 |
| Mucolipidosis Iv |
|
Babinski sign, Dystonia, Optic atrophy, Retinal degeneration, Spastic tetraplegia |
OMIM:252650 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Abnormality of retinal pigmentation, Microphthalmia, ... |
ORPHA:858 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Spasticity, Pigmentary retinopathy |
OMIM:617613 |
| Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy |
OMIM:600059 |
| Mental Retardation, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy, Cranial nerve compression |
OMIM:250450 |
| Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration |
OMIM:610381 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Micropenis, Decreased testicular size, Cryptorchidism, Azoospermia |
OMIM:614897 |
| Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma... |
ORPHA:99 |
| Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Rigidity, Neonatal death, Rod-cone dystrophy, Ataxia, Spasticity, Retinal atrophy |
OMIM:610127 |
| Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
| Glutathione Synthetase Deficiency |
|
Spastic tetraparesis, Ataxia, Intention tremor, Pigmentary retinopathy |
OMIM:266130 |
| Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... |
ORPHA:49382 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Oculorenocerebellar Syndrome |
|
Spastic diplegia, Retinal degeneration, Choreoathetosis |
OMIM:257970 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Rod-cone dystrophy, Macul... |
OMIM:204200 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... |
OMIM:618144 |
| Leigh Syndrome With Leukodystrophy |
|
Dystonia, Optic atrophy, Failure to thrive, Progressive cerebellar ataxia, Spasticity, Pigmentary... |
ORPHA:255241 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity, Large for gestational age |
ORPHA:356996 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration |
OMIM:600977 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen |
OMIM:136550 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Gait disturbance, Babinski sign, Upper limb spasticity, Pseudobulbar paralysis, Hand tremor, Abno... |
ORPHA:100996 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Retinal detachment |
OMIM:212550 |
| Idiopathic Uveal Effusion Syndrome |
|
Exudative retinal detachment, Microphthalmia, Retinal fold, Subretinal fluid |
ORPHA:209956 |
| Kearns-Sayre Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis |
ORPHA:480 |
| Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Macular Degeneration, Age-Related, 3 |
|
Drusen, Choroidal neovascularization, Decreased nerve conduction velocity, Macular degeneration, ... |
OMIM:608895 |
| Aceruloplasminemia |
|
Involuntary movements, Dystonia, Abnormality of retinal pigmentation, Retinal degeneration, Eleva... |
ORPHA:48818 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Optic disc pallor, Opisthotonus, Frequent falls, Weight loss, Rod-cone dystroph... |
ORPHA:216866 |
| Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Increa... |
ORPHA:325124 |
| Polyembryoma |
|
Macroorchidism, Isosexual precocious puberty |
ORPHA:180229 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Poor motor coordination, Myoclonus, Reduced subcutaneous adipose tissue, Reduced in... |
ORPHA:363400 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired proprioception, Pigmentary retinopathy, Optic atrophy, Attenuation of retinal blood vess... |
OMIM:609033 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Optic disc pallor, Retinal degeneration, Myoclonic spasms, Poor motor coordination, S... |
ORPHA:79264 |
| Ataxia With Vitamin E Deficiency |
|
Gait disturbance, Dystonia, Abnormality of retinal pigmentation, Dysmetria, Tremor, Ataxia, Hyper... |
ORPHA:96 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Optic atrophy, Babinski sign, Myoclonus, Ataxia, Flexion contracture, Pigmentary retino... |
OMIM:252011 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration, Choreoathetosis, Spastic tetraplegia, Spasticity |
OMIM:300438 |
| Narp Syndrome |
|
Babinski sign, Retinal arteriolar tortuosity, Optic disc pallor, Myoclonic spasms, Retinal pigmen... |
ORPHA:644 |
| Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... |
ORPHA:91348 |
| Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:600138 |
| Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Babinski sign, Clonus, Retinal degeneration, Paraplegia, Spastic gait, Lower limb spasticity, Mac... |
OMIM:270700 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Microphthalmia, Spastic ... |
OMIM:615663 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism |
OMIM:300055 |
| Retinal Dystrophy And Obesity |
|
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... |
OMIM:616188 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia |
OMIM:616657 |
| Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613758 |
| Bardet-Biedl Syndrome 2 |
|
Obesity, Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
| Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:613862 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... |
OMIM:607921 |
| Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryptorchidism, M... |
ORPHA:752 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Leigh Syndrome |
|
Dystonia, Optic atrophy, Hepatocellular necrosis, Failure to thrive, Ataxia, Spasticity, Pigmenta... |
OMIM:256000 |
| Leber Congenital Amaurosis 1 |
|
Eye poking, Hepatomegaly, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Poor gross motor coordination, Abnormality of connective tissue, Facial palsy, Loss of ability to... |
ORPHA:370968 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Dysmetria, Progressive gait ataxia, Fasciculations, Macular degeneration, Intention tremor, Progr... |
ORPHA:284289 |
| Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait, Elbow f... |
OMIM:619470 |
| Bietti Crystalline Dystrophy |
|
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... |
ORPHA:41751 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Tremor, Hyperactivity, Ataxia, Spasticity |
OMIM:300983 |
| Hsd10 Disease, Infantile Type |
|
Dystonia, Optic atrophy, Retinal degeneration, Choreoathetosis, Poor coordination, Rod-cone dystr... |
ORPHA:391428 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Atypica... |
ORPHA:791 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Retinal degeneration, Hepatic fibrosis, Splenomegaly, Oculomotor apraxia, Cholestas... |
OMIM:615630 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Cryptorchidism, ... |
OMIM:614837 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia, Large for gestational age |
OMIM:248110 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Azoospermia |
OMIM:309120 |
| Non-Functioning Pituitary Adenoma |
|
Macroorchidism, Macroorchidism, postpubertal, Adrenocorticotropic hormone deficiency, Hypogonadot... |
ORPHA:91349 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy, Hemiplegia |
ORPHA:2743 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy |
ORPHA:75373 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... |
ORPHA:215 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
| Aceruloplasminemia |
|
Retinal degeneration, Torticollis, Chorea, Abnormality of extrapyramidal motor function, Cogwheel... |
OMIM:604290 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... |
OMIM:619007 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Endometrial carcinoma, Female external genitalia in individu... |
ORPHA:90790 |
| Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula... |
OMIM:608161 |
| Foveal Hypoplasia 2 |
|
Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation |
OMIM:609218 |
| Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
| Sjogren-Larsson Syndrome |
|
Macular degeneration, Retinal pigment epithelial atrophy, Enamel hypoplasia, Spasticity, Retinal ... |
OMIM:270200 |
| Leber Congenital Amaurosis 2 |
|
Eye poking, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
| Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Retinal flecks, Rod-cone dystrophy, Gait disturbance, Choreoathetosis, Intention tremor, Slurred ... |
ORPHA:157850 |
| Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Truncal obesity, Rod-cone dystroph... |
OMIM:615986 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Microphthalmia, Aplasia/Hypoplasia of the iris... |
ORPHA:290 |
| Ramon Syndrome |
|
Failure to thrive, Abnormality of retinal pigmentation, Abnormal dental enamel morphology |
ORPHA:3019 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Joubert Syndrome 28 |
|
Oculomotor apraxia, Ataxia, Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Impaired proprioception, Gait disturbance, Postural tremor, Rigidity, Hand tremor, Head tremor, P... |
ORPHA:412057 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ataxia, Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration |
OMIM:249270 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
| Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... |
ORPHA:891 |
| Obesity |
|
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio |
OMIM:601665 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:601718 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microphthalmia, Large for gestational age |
ORPHA:2432 |
| Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Gait imbalance, Limb dysmetria, Loss of ability to walk, Pigmentary retinopathy, Abnormal pyramid... |
ORPHA:329336 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... |
ORPHA:1390 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... |
OMIM:305390 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Exudative vitreoretinopathy, Loss of ability to walk, Retinal detachment, Waddlin... |
ORPHA:2788 |
| Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Pigmentary retinopathy |
OMIM:619473 |
| Joubert Syndrome 6 |
|
Chorioretinal coloboma, Hepatic fibrosis, Retinal degeneration, Bile duct proliferation, Ataxia, ... |
OMIM:610688 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired proprioception, Optic atrophy, Hypocholesterolemia, Dysmetria, Spastic gait, Rod-cone dy... |
ORPHA:96180 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Truncal obesity, Pigmentary retinopathy |
OMIM:268050 |
| Achromatopsia 7 |
|
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea |
OMIM:616517 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Head titubation, Retinal dystrophy, Oculomotor apraxia, Ataxia, Retinal atrophy |
ORPHA:370022 |
| Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Retinal degeneration, Poor coordination, Bone spicule pigmentation of the retina... |
OMIM:615994 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Babinski sign, Frequent falls, Weight loss, Knee flexion contracture, Loss of ability to walk, At... |
ORPHA:3208 |
| Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... |
OMIM:617123 |
| Eem Syndrome |
|
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy |
ORPHA:1897 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive, Cholestatic liver disease, ... |
ORPHA:5 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Babinski sign, Abnormality of retinal pigmentation, Abnormal pyramidal sign, Spasticity |
ORPHA:397951 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex |
OMIM:615147 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Obesity, Keloids, Abnormality of retinal pigmentation |
ORPHA:3085 |
| Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy |
OMIM:180104 |
| Abetalipoproteinemia |
|
Impaired proprioception, Rod-cone dystrophy, Steatorrhea, Abnormality of retinal pigmentation, He... |
ORPHA:14 |
| Refsum Disease, Classic |
|
Ataxia, Retinal degeneration, Rod-cone dystrophy, Somatic sensory dysfunction |
OMIM:266500 |
| Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
| Microphthalmia, Isolated 6 |
|
Retinal fold, Microphthalmia |
OMIM:613517 |
| Smith-Magenis Syndrome |
|
Impaired pain sensation, Stereotypy, Hypercholesterolemia, Hyperactivity, Retinal detachment, Hyp... |
OMIM:182290 |
| Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Chorioretinal coloboma, Inguinal hernia, Macular coloboma, U... |
ORPHA:2196 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Retinal dysplasia |
ORPHA:324416 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, At... |
OMIM:619260 |
| Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, Gait imbalance, Retinal degeneration, Hepatic fibrosis, Poor coordination,... |
OMIM:209900 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Microphthalmia, Chorioretinal coloboma |
ORPHA:1473 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Hepatomegaly, Failure to thrive, Myoclonus, Ataxia, P... |
OMIM:560000 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Retinal degeneration, Myoclonus, Cortical myoclonus, Stereotypy, Hyperactivity,... |
ORPHA:168491 |
| Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Gait disturbance, Pigmentary retinopathy, Bone spicule pigmentation of t... |
ORPHA:88628 |
| Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
| Warburg Micro Syndrome 1 |
|
Failure to thrive, Optic atrophy, Spastic diplegia, Microphthalmia |
OMIM:600118 |
| Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Retinal dystrophy, Rod-cone dystrophy, Macular degeneration, Cholestasis, Obesity |
OMIM:616629 |
| Joubert Syndrome 8 |
|
Hepatomegaly, Optic disc pallor, Ataxia, Oculomotor apraxia, Hypertonia, Pigmentary retinopathy, ... |
OMIM:612291 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormality of the optic disc, Hemiplegia/hemiparesis |
ORPHA:65 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Microphthalmia, Splenomegaly, Ataxia, Retinopathy, Abnormal ... |
ORPHA:773 |
| Jeune Syndrome |
|
Abnormality of the liver, Abnormality of retinal pigmentation |
ORPHA:474 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... |
OMIM:603075 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Optic atrophy, Hemiplegia/hemiparesis |
ORPHA:1173 |
| Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Macular edema, Rod-cone dystrophy, Choriore... |
OMIM:613750 |
| Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Macroorchidism |
OMIM:618874 |
| Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Gait disturbance, Arm dystonia, Retinal degeneration, Babinski sign, Speech ... |
ORPHA:79244 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Bilateral microphthalmos |
OMIM:611638 |
| Poretti-Boltshauser Syndrome |
|
Oculomotor apraxia, Retinal dystrophy, Retinal thinning, Retinal atrophy |
OMIM:615960 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Babinski sign, Retinal degeneration, Decreased circulating antibody level, Splenome... |
OMIM:248500 |
| Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity, Microphthalmia, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
| Abetalipoproteinemia |
|
Ataxia, Retinal degeneration, Retinopathy |
OMIM:200100 |
| Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypertonia, Flexion contracture |
ORPHA:141 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic necrosis, Increased circulating free fatty acid level, Hepatic steatos... |
ORPHA:71212 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia, Chorioretinal coloboma |
OMIM:616428 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... |
ORPHA:364055 |
| Myopathy, Mitochondrial, And Ataxia |
|
Dysmetria, Distal sensory impairment, Ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Trun... |
OMIM:617675 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Microphthalmia, Chorioretinal dysplasia, Chorioretinal lacunae, Reti... |
OMIM:152950 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy |
OMIM:172870 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Microphthalmia, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
| Mccune-Albright Syndrome |
|
Macroorchidism, Goiter, Abnormal testis morphology, Hyperplasia of the Leydig cells, Elevated cir... |
ORPHA:562 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy |
OMIM:613843 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorchidism, Perine... |
OMIM:312300 |
| Optic Atrophy 11 |
|
Optic atrophy, Dysmetria, Facial diplegia, Hyperactivity, Ataxia, Hyperkinetic movements |
OMIM:617302 |
| Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of the liver, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
| Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Retinal degeneration, Opisthotonus |
OMIM:616896 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Gait disturbance, Optic atrophy, Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis, Atax... |
ORPHA:436271 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Female... |
ORPHA:91 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Cafe-au-lait spot |
ORPHA:436151 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Dystonia, Gait disturbance, Pigmentary retinopathy, Optic atrophy, Retinal degenera... |
OMIM:234200 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
| Joubert Syndrome 22 |
|
Oculomotor apraxia, Microphthalmia, Retinal dysplasia |
OMIM:615665 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Oguchi Disease |
|
Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy |
ORPHA:75382 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia, Retinal degeneration, Flexion contracture |
OMIM:615249 |
| Mucolipidosis Type Iv |
|
Gait disturbance, Abnormality of retinal pigmentation, Ataxia, Retinopathy |
ORPHA:578 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder, Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Norrie Disease |
|
Optic atrophy, Retinal fold, Microphthalmia, Retinal dysplasia, Hypoplasia of the iris, Retinal d... |
OMIM:310600 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Juvenile Huntington Disease |
|
Dystonia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Hyperactivity, Progressive cere... |
ORPHA:248111 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Dysmetria, Tremor, Progressive cerebellar ataxia, Dysdiadochokinesis, Lipoma, ... |
ORPHA:502423 |
| Warburg Micro Syndrome 3 |
|
Optic atrophy, Microphthalmia, Spastic tetraplegia, Ankle clonus, Flexion contracture |
OMIM:614222 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Chorioretinal atrophy |
OMIM:210370 |
| Trisomy 20P |
|
Hypospadias, Macroorchidism, Cryptorchidism |
ORPHA:261318 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Small for gestational age, Failure to thrive, Elevated circulating aspartate aminotransferase con... |
OMIM:609015 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Progressive spasticity, Gait disturbance, Parkinsonism, Retinal degeneration, Orthostatic hypoten... |
ORPHA:2822 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Paresthesia, Dysmetria, Intention tremor, Ataxia, Camptodactyly of finger, Abnorm... |
ORPHA:48431 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age |
ORPHA:85288 |
| Scheie Syndrome |
|
