Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology, Microcephaly |
ORPHA:3465 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum |
OMIM:617542 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract, Tremor |
OMIM:165300 |
Optic Atrophy 2 |
|
Optic atrophy, Tremor |
OMIM:311050 |
Burning Mouth Syndrome |
|
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology |
ORPHA:353253 |
Cherubism |
|
Optic neuropathy, Macular scar, Marcus Gunn pupil, Submandibular lymph node enlargement |
OMIM:118400 |
Bilateral Polymicrogyria |
|
Perisylvian polymicrogyria, Facial diplegia, Aplasia/Hypoplasia of the cerebral white matter, 4-l... |
ORPHA:268940 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude |
ORPHA:90117 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy |
OMIM:609055 |
Glossopharyngeal Neuralgia |
|
Schwannoma, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology |
ORPHA:221098 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Abnormal a... |
ORPHA:300570 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy |
OMIM:617087 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Partington Syndrome |
|
Limb dystonia, Macroorchidism |
ORPHA:94083 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Hypogonadism |
OMIM:312910 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Macroorchidism, Oligospermia |
ORPHA:3000 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy, Micropenis |
OMIM:610156 |
Retinohepatoendocrinologic Syndrome |
|
Optic disc pallor, Degenerative liver disease, Cone dystrophy |
OMIM:268040 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Developmental cataract, Corneal dystrophy |
ORPHA:2572 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Periventricular Nodular Heterotopia 7 |
|
Optic atrophy, Cryptorchidism |
OMIM:617201 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Tremor, Choreoathetosis, Male hypogonadism, Juvenile cataract, Dystonia, Macroorc... |
OMIM:300055 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration |
OMIM:618195 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy |
OMIM:616171 |
Morm Syndrome |
|
Cataract, Retinal atrophy, Retinal dystrophy, Micropenis |
ORPHA:75858 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Intention tremor, Hypergonadotropic hypogonadism, Pigmentary retinopathy, Tre... |
OMIM:614307 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Tick-Borne Encephalitis |
|
Abnormal autonomic nervous system physiology, Polyneuritis, Abnormal cranial nerve morphology, Fa... |
ORPHA:297 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Facial palsy, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fu... |
OMIM:204000 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Resting tremor, Macroorchidism |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Crypto... |
ORPHA:363741 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Facial palsy, Optic atrophy, Optic disc p... |
OMIM:611490 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... |
ORPHA:231736 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi... |
OMIM:264470 |
Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Retinal degeneration, Optic atrophy, Jaundice |
OMIM:214980 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:614296 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... |
ORPHA:190 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Vacuolated lymphocytes, Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Optic atr... |
OMIM:204200 |
Galactose Epimerase Deficiency |
|
Cataract, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... |
OMIM:309300 |
47,Xyy Syndrome |
|
Congenital stationary night blindness, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Var... |
ORPHA:8 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Intention tremor, Hepatosplenomegaly, Optic atrophy, Hepatic fibrosis |
ORPHA:466794 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... |
OMIM:212550 |
Spondylometaphyseal Dysplasia, Axial |
|
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Cone/cone-rod dystrophy, Optic atrophy |
OMIM:602271 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cataract, Rod-cone... |
OMIM:613801 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Hypospadias, Optic atrophy, Decreased testicular size, Normochr... |
OMIM:610198 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Athetosis, Optic atrophy, Cryptorchidism, Dystonia |
OMIM:619310 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypoplasia of penis, O... |
ORPHA:791 |
Leber Congenital Amaurosis 4 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Ma... |
OMIM:604393 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Cataract, Hepatomegaly, Jaundice |
OMIM:614876 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90654 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anomaly, Optic disc colob... |
OMIM:120200 |
Polyembryoma |
|
Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum |
ORPHA:180229 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy, Choreoathetosis, Dystonia |
OMIM:271930 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... |
OMIM:251270 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Congenital hepatic fibrosis |
ORPHA:3156 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, Decreased nerve conduction velocity, Sensory axon... |
ORPHA:457205 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Mccune-Albright Syndrome |
|
Precocious puberty, Pancreatitis, Elevated circulating growth hormone concentration, Ovarian cyst... |
ORPHA:562 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Hypervitaminosis A, Susceptibility To |
|
Papilledema, Abnormality of the liver |
OMIM:240150 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Neurodegeneration With Brain Iron Accumulation |
|
Optic atrophy, Retinopathy, Dystonia |
ORPHA:385 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy, Generalized... |
OMIM:619389 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract |
OMIM:273680 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Congenital hepatic fibrosis, Iris coloboma, Cataract, Displacement of the ur... |
ORPHA:2377 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Hepatomegaly, Cataract |
OMIM:613730 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis... |
ORPHA:457083 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Retinal telangiectasia, Postural tremor, Retinal vascular tortuosity |
ORPHA:104 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... |
OMIM:300476 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Non-Functioning Pituitary Adenoma |
|
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... |
ORPHA:91349 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Rod-cone dystrophy, Coloboma, Optic atroph... |
ORPHA:324737 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Cataract, Sensory axonal neuropathy |
ORPHA:329314 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Stt3B-Cdg |
|
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum |
ORPHA:370924 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... |
ORPHA:137902 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy |
OMIM:616389 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology |
ORPHA:65 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614181 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Decreased liver function, Cataract, Retinal dystrophy |
OMIM:614877 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Optic neuritis, Peripheral demyelination |
OMIM:165200 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Hepatic steatosis, Dystonia |
ORPHA:26792 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum |
OMIM:615597 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
Optic Atrophy 9 |
|
Optic atrophy |
OMIM:616289 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Hypogonadism |
ORPHA:1466 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Intention tremor, Optic atrophy, Optic disc pallor, Choreoat... |
ORPHA:98890 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Th... |
ORPHA:79312 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cataract, Cholestasis |
ORPHA:570422 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Optic atrophy, Cryptorchidism |
OMIM:618766 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Optic atrophy, Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure |
OMIM:616975 |
Cataract 9, Multiple Types |
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Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Abnormality of the liver |
ORPHA:44 |
Isolated Follicle Stimulating Hormone Deficiency |
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Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... |
ORPHA:52901 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Aplasia/Hypopla... |
ORPHA:290 |
Merrf |
|
Optic atrophy |
ORPHA:551 |
Infantile Spasms-Broad Thumbs Syndrome |
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Optic disc pallor, Cataract, Vaginal hernia |
ORPHA:3173 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Developmental And Epileptic Encephalopathy 28 |
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Optic atrophy, Retinal degeneration |
OMIM:616211 |
Infantile-Onset Spinocerebellar Ataxia |
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Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Macroorchidism |
ORPHA:85327 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Dystonia |
ORPHA:1171 |
Optic Nerve Hypoplasia, Bilateral |
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Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... |
OMIM:165550 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... |
OMIM:193230 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve |
ORPHA:449563 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
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Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology |
ORPHA:3151 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... |
OMIM:311070 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Iris coloboma, Macroorchidism |
OMIM:618874 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... |
OMIM:614866 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Warburg Micro Syndrome 1 |
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External genital hypoplasia, Microcornea, Optic atrophy, Developmental cataract, Cryptorchidism |
OMIM:600118 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor |
OMIM:614504 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic atrophy, Dystonia, Craniofacial dystonia |
OMIM:617282 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy |
OMIM:300928 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Mucolipidosis Iv |
|
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy, Dystonia |
OMIM:252650 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia... |
ORPHA:289916 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Retinopathy, Optic atrophy, Tremor, Limb dystonia, Focal dystonia |
ORPHA:216873 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... |
OMIM:612572 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cataract, Decreased testicul... |
ORPHA:3085 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Hypergonadotropic hypogonadism, Sensory axonal neuropathy, Athetosis, Optic atrophy, Elevated hep... |
OMIM:271245 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... |
OMIM:180105 |
Retinitis Pigmentosa 56 |
|
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... |
OMIM:613581 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Cryptorchidis... |
OMIM:249270 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy, Hemidystonia |
OMIM:619052 |
Benign Schwannoma |
|
Facial palsy, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnormality of per... |
ORPHA:252164 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Diencephalic Syndrome |
|
Optic atrophy, Long penis |
ORPHA:1672 |
Microphthalmia, Syndromic 5 |
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Micropenis, Optic nerve hypoplasia, Microcornea, Retinal dystrophy, Coloboma, Ectopic posterior p... |
OMIM:610125 |
Infantile Refsum Disease |
|
Hepatomegaly, Rod-cone dystrophy, Optic atrophy, Cataract, Facial palsy |
ORPHA:772 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism |
ORPHA:1381 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic atrophy, Optic disc pallor |
OMIM:618776 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... |
ORPHA:91 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Riboflavin Transporter Deficiency |
|
Abnormal autonomic nervous system physiology, Abnormality of macular pigmentation, Optic disc pal... |
ORPHA:97229 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... |
OMIM:300578 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, ... |
ORPHA:585 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Optic atrophy, Astigmatism |
OMIM:248000 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Pigmentary retinopathy, ... |
OMIM:214110 |
Jalili Syndrome |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:217080 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Giant cell hepatitis, Cholestatic liver disease, Pigmentary retinopathy, Tremor, ... |
ORPHA:79095 |
Trisomy 20P |
|
Hypospadias, Cryptorchidism, Abnormal autonomic nervous system physiology, Macroorchidism |
ORPHA:261318 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Intention tremor, Optic atrophy, Hypospadias, Head titubation |
OMIM:618688 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... |
ORPHA:90674 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... |
OMIM:602772 |
Galactosemia |
|
Action tremor, Hepatomegaly, Cryptorchidism, Hepatic failure, Cirrhosis, Abnormal erythrocyte enz... |
ORPHA:352 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Wolfram-Like Syndrome |
|
Optic atrophy, Central diabetes insipidus, Peripheral axonal neuropathy, Male hypogonadism |
ORPHA:411590 |
Zika Virus Disease |
|
Absent foveal reflex, Lens subluxation, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Gracile Bone Dysplasia |
|
Aniridia, Hypoplastic spleen, Asplenia, Micropenis |
OMIM:602361 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Optic atrophy, Choreoathetosis, Anemia... |
ORPHA:27 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Dystonia, Leber optic atrophy, Athetosis |
OMIM:500001 |
Warburg Micro Syndrome 2 |
|
Micropenis, Microcornea, Optic atrophy, Cataract, Developmental cataract, Hypoplastic labia major... |
OMIM:614225 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Tremor, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Cinca Syndrome |
|
Leukocytosis, Papilledema, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Warburg Micro Syndrome 3 |
|
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypoplastic labia minora, Catar... |
OMIM:614222 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone dystrophy, Intention tremor, ... |
OMIM:612674 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Cataract, Retinal dystrophy, Astigmatism |
OMIM:612285 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy... |
OMIM:222300 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
4H Leukodystrophy |
|
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Optic atrop... |
ORPHA:289494 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Microcytic anemia, Hepatomegaly, Neutropenia |
OMIM:251900 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal retinal morphology, Hypoplastic spleen |
ORPHA:89844 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:616469 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Hepatomegaly |
OMIM:614299 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy |
OMIM:617460 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... |
OMIM:152950 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atrophy, Cataract, C... |
ORPHA:496790 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Splenomegaly, Abnormal macular morphology, Retinopathy, Optic atrophy, Tremor, Elev... |
OMIM:608799 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Lymphangioma, Ovarian neoplasm, Macroorchidism, Splenomegaly... |
ORPHA:744 |
Zellweger Syndrome |
|
Corneal opacity, Hepatomegaly, Hepatic failure, Hypospadias, Posterior embryotoxon, Abnormal chor... |
ORPHA:912 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Posterior subcapsular cataract, Optic disc p... |
OMIM:600132 |
Filippi Syndrome |
|
Optic atrophy, Ambiguous genitalia, Cryptorchidism, Dystonia |
OMIM:272440 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... |
OMIM:312600 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma, Optic atrophy, Elevated hepatic transaminase, Microcytic anemia, Cataract |
OMIM:612379 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... |
OMIM:613810 |
Juvenile Glaucoma |
|
Optic neuropathy, Increased cup-to-disc ratio, Abnormal anterior chamber morphology, Temporal opt... |
ORPHA:98977 |
Warburg Micro Syndrome 4 |
|
Micropenis, Decreased motor nerve conduction velocity, Microcornea, Optic atrophy, Developmental ... |
OMIM:615663 |
Congenital Hydrocephalus |
|
Optic atrophy, Iris coloboma, Macular hypoplasia |
ORPHA:2185 |
Galactosemia I |
|
Decreased liver function, Hepatomegaly, Hypergonadotropic hypogonadism, Cirrhosis, Elevated circu... |
OMIM:230400 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Coach Syndrome 1 |
|
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Coloboma, Optic disc pa... |
OMIM:216360 |
Lissencephaly 5 |
|
Optic atrophy, Cataract |
OMIM:615191 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Postural tremor, Cataract |
OMIM:270800 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:619425 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
Wildervanck Syndrome |
|
Facial palsy, Lens subluxation, Pseudopapilledema |
ORPHA:3456 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Juvenile Sialidosis Type 2 |
|
Corneal opacity, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Optic atrophy, ... |
ORPHA:93399 |
Mirage Syndrome |
|
Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, Leukopenia, Hypoplastic... |
OMIM:617053 |
Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Tremor, Choreoathetosis, Dystonia |
OMIM:612438 |
Congenital Sialidosis Type 2 |
|
Corneal opacity, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Yellow/white le... |
ORPHA:93400 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Facial diplegia, Testicular atrophy, Cataract, Hypogonadism |
OMIM:160900 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Optic atrophy, Elevated circulating alanine aminotransferase conce... |
OMIM:261680 |
Alpha-Mannosidosis, Adult Form |
|
Corneal opacity, Hepatosplenomegaly, Optic disc pallor, Cataract, Pancytopenia |
ORPHA:309288 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Cataract, Elevated circulating alanine aminotransf... |
OMIM:618805 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Extramedullary hematopoiesis, Hepatosplenomegaly, Facial paralysis, Op... |
OMIM:259710 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Splenomegaly, Retinal detachment, Limbal dermoid, Abnormality of the p... |
ORPHA:2969 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Abnormal autonomic nervous system physiology, Thrombocytopenia, Optic atrop... |
OMIM:598500 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor |
OMIM:612989 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Cryptorchidism, Sclerocornea, Chorioreti... |
ORPHA:139471 |
Optic Pathway Glioma |
|
Optic atrophy, Neurofibromas, Precocious puberty, Papilledema |
ORPHA:2086 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Tremor, Dystonia, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Cataract, Chorioretinal coloboma |
ORPHA:163937 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Peripheral axonal neuropathy, Optic atrophy, Tremor, El... |
OMIM:615673 |
Harel-Yoon Syndrome |
|
Corneal opacity, Peripheral axonal neuropathy, Optic atrophy, Developmental cataract, Dystonia |
OMIM:617183 |
Null Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... |
ORPHA:280234 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcapsular cataract, Rod-c... |
OMIM:615233 |
Triple A Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Iris coloboma, Anterior hypopituitarism |
ORPHA:869 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Abnormality of the g... |
ORPHA:3376 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis, Rod-cone dystrophy, Micropenis, Papilledema, Astigmatism, Retinal vascular tortuosi... |
OMIM:619471 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... |
OMIM:609033 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pseudopapilledema, Abnormal granulocyte morphology, Abn... |
ORPHA:1451 |
Carney Complex |
|
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... |
ORPHA:1359 |
Dilated Cardiomyopathy With Ataxia |
|
Action tremor, Microvesicular hepatic steatosis, Hypoplasia of penis, Hypochromic microcytic anem... |
ORPHA:66634 |
Meckel Syndrome |
|
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Accessory spleen, Sclerocornea... |
ORPHA:564 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice |
OMIM:608885 |
Walker-Warburg Syndrome |
|
Corneal opacity, Hypoplasia of penis, Retinal detachment, Microcornea, Retinal dystrophy, Optic a... |
ORPHA:899 |
Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Nuclear cataract, Fluctuating splenomegaly, Leukocytosis, Normocytic hy... |
OMIM:610377 |
Late-Onset Retinal Degeneration |
|
Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... |
ORPHA:67042 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Tremor, Abnormal nerve conduction velocity |
ORPHA:99014 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Supernumerary nipple, Hypogonadotropic hypogonadism, Optic a... |
ORPHA:1173 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Optic atrophy, Cataract, Retinal dysplasia |
ORPHA:272 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... |
ORPHA:400 |
Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly, Gonadal dysgenesis, Optic atrophy, Cataract |
ORPHA:135 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic atrophy, Optic disc pallor, Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Woods Syndrome |
|
Optic atrophy, Lingual dystonia, Supernumerary nipple |
OMIM:615236 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials |
OMIM:616648 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Corneal stromal edema, Cataract... |
ORPHA:699 |
Isolated Aniridia |
|
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Optic disc pal... |
OMIM:615512 |
Leukodystrophy, Hypomyelinating, 2 |
|
Intention tremor, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Head titu... |
OMIM:608804 |
Lissencephaly 8 |
|
Optic atrophy, Cataract |
OMIM:617255 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Optic atrophy, Cryptorchidism, Fundus atrophy, Small scrotum |
ORPHA:1970 |
Leber Optic Atrophy |
|
Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy,... |
OMIM:535000 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Microcornea, Clitoral... |
ORPHA:2510 |
Developmental And Epileptic Encephalopathy 93 |
|
Optic atrophy, Iris coloboma |
OMIM:618012 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Optic atrophy, Hepatomegaly |
ORPHA:79279 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Micropenis, Hypogonadotropic hypogonadism, Microcytic anem... |
ORPHA:293967 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Conjunctivitis |
ORPHA:575 |
Leigh Syndrome |
|
Optic atrophy, Dystonia, Hepatocellular necrosis, Pigmentary retinopathy |
OMIM:256000 |
Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, ... |
OMIM:612109 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Dpm1-Cdg |
|
Hepatomegaly, External genital hypoplasia, Retinopathy, Hepatosplenomegaly, Optic atrophy, Elevat... |
ORPHA:79322 |
Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor, Astigmatism |
OMIM:619328 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Morning glory anomaly, Temporal optic disc pallor, Macrocytic anemia, Optic atrophy, Cataract, Hy... |
ORPHA:98673 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Retinal dystrophy |
ORPHA:49827 |
Blepharonasofacial Malformation Syndrome |
|
Optic atrophy, Cryptorchidism, Torsion dystonia |
ORPHA:1252 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Optic atrophy, Retinal arteriolar constriction |
OMIM:249660 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Joubert Syndrome 8 |
|
Optic disc pallor, Hepatomegaly, Pigmentary retinopathy, Prolonged neonatal jaundice |
OMIM:612291 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Idiopathic Anterior Uveitis |
|
Nuclear cataract, Increased cup-to-disc ratio, Macular edema, Posterior subcapsular cataract, Pos... |
ORPHA:280914 |
Distal Monosomy 13Q |
|
Optic atrophy, Ambiguous genitalia, Iris coloboma |
ORPHA:1590 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Hepatomegaly |
ORPHA:2971 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Splenomegaly, Facial palsy, Facial paralysis, Optic atrophy, Pancytopenia, Anemia, ... |
OMIM:259700 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Astigmatism, Optic atrophy, Peters anomaly, Iris coloboma, Cryptorchidism, Chorioret... |
ORPHA:494344 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dysplasia, Vaginal atresia, Cryp... |
ORPHA:3301 |
Trisomy 13 |
|
Abnormal retinal vascular morphology, Optic atrophy, Abnormal morphology of female internal genit... |
ORPHA:3378 |
Aniridia-Absent Patella Syndrome |
|
Cryptorchidism, Cataract, Aniridia |
ORPHA:1069 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Decreased nerve conduction velocity, Cholecystitis, Optic atrophy, Dysto... |
OMIM:250100 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Uveal ectropion, Retinal hemorrhage,... |
OMIM:609049 |
Aica-Ribosuria Due To Atic Deficiency |
|
Optic atrophy, Clitoral hypertrophy, Fused labia minora |
OMIM:608688 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Optic atrophy, Tremor, Postural tremor, Dystonia |
OMIM:607694 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Optic atrophy, Elevated hepatic transaminase,... |
OMIM:614576 |
Aniridia 1 |
|
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorioretinal hypopigmentat... |
OMIM:106210 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Cholelithiasis, Hypoparathyroidism, Chronic active hepa... |
OMIM:240300 |
Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Peripheral axonal neuropathy, Dystonia, Resting tremor |
ORPHA:401768 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... |
OMIM:610256 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Bardet-Biedl Syndrome 1 |
|
Retinal degeneration, Rod-cone dystrophy, Vaginal atresia, Micropenis, Attenuation of retinal blo... |
OMIM:209900 |
Intermediate Uveitis |
|
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Epiretinal membrane, Vitr... |
ORPHA:279914 |
Amish Lethal Microcephaly |
|
Optic atrophy, Hepatomegaly |
ORPHA:99742 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, Dystonia, Prolonged neonatal jaundice |
OMIM:618868 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Decreased mean corpuscular volume, Anisocytosis, Retinal... |
OMIM:616959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... |
OMIM:614643 |
Aspartylglucosaminuria |
|
Hepatomegaly, Vacuolated lymphocytes, Cataract, Neutropenia, Macroorchidism |
OMIM:208400 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor... |
OMIM:619260 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Abnormal retinal nerve fiber lay... |
ORPHA:1215 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Sensory axonal neuropathy, Optic atrophy, Optic disc pallor, Motor ... |
OMIM:609541 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmentation of the ... |
OMIM:268315 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy |
ORPHA:1021 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Rod-cone dystrophy, Cirrhosis, Optic atrophy, Hepatic fibrosis |
OMIM:601539 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Micropenis, Chorioretinal atrophy, Hepatosplenomegaly, Optic atrophy, Acute pancrea... |
OMIM:619487 |
Pontocerebellar Hypoplasia, Type 16 |
|
Optic atrophy, Cataract |
OMIM:619527 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal posterior eye segment morphology, Abnormal corn... |
ORPHA:67043 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Peripheral axonal neuropathy, Optic atrophy, Optic disc pallor, Dec... |
ORPHA:320406 |
Marinesco-Sjögren Syndrome |
|
Optic atrophy, Cataract, External genital hypoplasia, Hypogonadism |
ORPHA:559 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Optic atrophy, Elevated hepatic transaminase, Hepatomegaly, External genital hypoplasia |
ORPHA:329178 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, ... |
ORPHA:261552 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Retinal detachment, Megalocornea, Coloboma, Optic atrophy, Cataract, Abno... |
ORPHA:370959 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Optic disc coloboma, Cataract, Punctate keratitis, Corneal erosion |
ORPHA:92050 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Cryptorchidism, Pigmentary retinopathy, Optic ... |
ORPHA:90321 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria |
ORPHA:2714 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria |
OMIM:619649 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism |
OMIM:617523 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Dystonia, Macroorchidism |
OMIM:619950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Corneal opacity, Buphthalmos, Optic nerve hypoplasia, Retinal detachment, Megalocornea, Coloboma,... |
OMIM:236670 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Accessory spleen, Microcornea, Retinal vascular tortuosity, Peters anomal... |
OMIM:243605 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatic failure, Hepatosp... |
OMIM:259720 |
Arnold-Chiari Malformation Type I |
|
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Myelopathy, Abnormality of ... |
ORPHA:268882 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy |
OMIM:614651 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Band keratopathy, Cirrhosis, Chronic hepatitis, Kerat... |
OMIM:269200 |
Werner Syndrome |
|
Retinal degeneration, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co... |
OMIM:277700 |
Aspartylglucosaminuria |
|
Hepatomegaly, Macroorchidism, Splenomegaly |
ORPHA:93 |
Norrie Disease |
|
Remnants of the hyaloid vascular system, Corneal opacity, Abnormal pupil morphology, Abnormal ret... |
ORPHA:649 |
Neurofibromatosis Type 2 |
|
Retinal hamartoma, Remnants of the hyaloid vascular system, Neuroma, Bilateral vestibular schwann... |
ORPHA:637 |
Muscle-Eye-Brain Disease |
|
Optic atrophy, Cataract |
ORPHA:588 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Optic atrophy, Hepatomegaly |
OMIM:606056 |
Leprosy |
|
Enlarged peripheral nerve, Abnormal autonomic nervous system physiology, Abnormality of the seven... |
ORPHA:548 |
Mogs-Cdg |
|
Hydrocele testis, Absent brainstem auditory responses, Hepatomegaly, External genital hypoplasia,... |
ORPHA:79330 |
Gm1-Gangliosidosis, Type Ii |
|
Optic atrophy, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly |
OMIM:230600 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased liver function, Hepatomegaly, Decreased nerve conduction velocity, Rod-cone dystrophy, ... |
OMIM:614863 |
Pagod Syndrome |
|
Agonadism, Abnormality of the spleen, Optic atrophy, Ambiguous genitalia, Abnormal morphology of ... |
ORPHA:991 |
Biotinidase Deficiency |
|
Optic atrophy, Hepatomegaly, Conjunctivitis, Splenomegaly |
OMIM:253260 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Hypoplastic spleen, Cryptorch... |
OMIM:601186 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Retinal dystrophy, Optic disc pallor, Aplasia/Hypoplasia of the optic nerve, Prolonged neonatal j... |
ORPHA:423479 |
Dermoid Cysts, Familial Frontonasal |
|
Papilledema |
OMIM:600679 |
Enhanced S-Cone Syndrome |
|
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis |
OMIM:268100 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Granular macular appearance, Uterine neoplasm, Prostate cancer... |
ORPHA:71505 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Thyroid dysgenesis, Anterior hypopituitarism, Optic atrophy, Catarac... |
ORPHA:442 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy |
OMIM:263100 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Optic disc pallor, Abnormality of central somatosensory evoked potentials, Cataract |
OMIM:213700 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Cataract, Hypogonadism |
OMIM:610651 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Hypospadias, Opacification of the corneal stroma, Pigmentary retinopathy, Optic dis... |
OMIM:214100 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia |
OMIM:612301 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Optic atrophy, Truncal titubation |
OMIM:618800 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Decreased liver function, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic st... |
ORPHA:436271 |
Chops Syndrome |
|
Optic atrophy, Cryptorchidism, Cataract, Splenomegaly |
OMIM:616368 |
Jacobsen Syndrome |
|
Annular pancreas, Labial hypoplasia, Hypospadias, Microcornea, Clitoral hypoplasia, Optic atrophy... |
OMIM:147791 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Intention tremor, Optic atrophy, Vestibular areflexia |
ORPHA:504476 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Cholelithiasis, Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Choreoa... |
ORPHA:2715 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Opisthotonus, Pigmentary retinopathy, Optic disc pallor, Generalized dystonia |
ORPHA:216866 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
External genital hypoplasia, Optic atrophy, Elevated hepatic transaminase, Hypogonadism, Cryptorc... |
OMIM:614231 |
Dyskeratosis Congenita, X-Linked |
|
Urethral stenosis, Cryptorchidism, Cirrhosis, Leukopenia, Hypospadias, Optic atrophy, Cataract, P... |
OMIM:305000 |
Cockayne Syndrome A |
|
Thymic hormone decreased, Abnormal peripheral myelination, Hepatomegaly, Decreased nerve conducti... |
OMIM:216400 |
Hyper-Igd Syndrome |
|
Neutrophilia, Rod-cone dystrophy, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, ... |
OMIM:260920 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Chorioretinal hyperpigmentation, Macrovesicular hepatic steatosis, Opti... |
OMIM:618329 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Prominent scrotal raphe, Bifid scrotum, Abnormality of the pancreas, Optic atrophy, Cryptorchidism |
ORPHA:1555 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Intention tremor, Cholecystitis, Optic atrophy, Dystonia |
ORPHA:309263 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Decreased liver function, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Increased hepatoce... |
OMIM:220110 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic atrophy, Optic neuropathy, Choreoathetosis |
OMIM:618249 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Orthostatic hypotension, Abnormality of the peritoneu... |
ORPHA:1764 |
Classic Homocystinuria |
|