Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Peripheral axonal neuropathy, Facial palsy, Dysgenesis of the basal ganglia, Hypoplastic anterior... |
OMIM:600638 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Neurogenic bladder, Optic nerve hypoplasia, Pachygyria, T... |
ORPHA:572013 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
OMIM:274205 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... |
ORPHA:3077 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Psychomotor deterioration, Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Bilateral Polymicrogyria |
|
4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Perisylvian polymicrogy... |
ORPHA:268940 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Schwannoma |
ORPHA:221098 |
Optic Atrophy 2 |
|
Tremor, Optic atrophy |
OMIM:311050 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve |
ORPHA:90117 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement |
OMIM:118400 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Large ... |
ORPHA:300570 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Tremor, Bruxism, Choreoathetosis, Male hypogonadism, Dystonia, Macr... |
OMIM:300055 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Macroorchidism, Hypospadias, Impulsivity, Cryptorchidism, Increa... |
ORPHA:8 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Memory impairment |
OMIM:620312 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Violent behavior, Impulsivity, Tremor, Optic atrophy, Dysphagia, Depression, Focal dystonia, Irri... |
ORPHA:216873 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... |
OMIM:300624 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Aggressive behavior, Micropenis |
ORPHA:75858 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Anemia |
OMIM:238700 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Mental deterioration, Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Optic atrophy, Depression, Dementia, Cognitive impairment, Dysphagia, Sensory axonal ne... |
ORPHA:329314 |
Partington Syndrome |
|
Macroorchidism, Limb dystonia |
ORPHA:94083 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy, Depression |
OMIM:614296 |
Fragile X Syndrome |
|
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder |
ORPHA:908 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Psychomotor deterioration, Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration,... |
OMIM:204200 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Tremor, Depression, Pigmentary retinopathy, Abnormality... |
OMIM:614307 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Optic atrophy, Dysphagia, Pigmentary retinopathy, Ir... |
OMIM:264470 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Tremor, Dystonia, Mental deterioration |
OMIM:615924 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Tick-Borne Encephalitis |
|
Facial palsy, Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abnormal autonomic nervou... |
ORPHA:297 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, E... |
OMIM:204000 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Attention deficit hyperactivity disorder |
ORPHA:776 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Attention deficit hyperactivity disorder, Polycystic ovaries |
ORPHA:284180 |
Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Athetosis, Dystonia, Mental deterio... |
OMIM:619310 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Dysphagia, Cognitive impairment, Dystonia |
ORPHA:1171 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Optic disc pallor, Cryptorchidism |
OMIM:613730 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Depression, Macular degeneratio... |
OMIM:256730 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... |
ORPHA:85327 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R... |
OMIM:602271 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Depression, Dementia, Male hypogonadism |
ORPHA:411590 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... |
ORPHA:562 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment |
ORPHA:2246 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Mental deterioration, Optic atrophy |
OMIM:610951 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Optic atrophy, Dysphagia, Dystonia |
OMIM:271930 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Irritability, Dystonia, Abnor... |
ORPHA:457205 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Polyembryoma |
|
Abnormal peritoneum morphology, Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Cataract... |
ORPHA:3156 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Dementia, Optic atrophy |
OMIM:182830 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Premature ovarian insufficiency, Optic atrophy, Depression, Amenorrhea |
OMIM:619425 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Optic atrophy, Aggressive behavior |
OMIM:300983 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Macroorchidi... |
OMIM:309520 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Depression, Attention deficit hyperactivity disorder, Prolonged neonata... |
ORPHA:90674 |
Merrf |
|
Optic atrophy, Cognitive impairment |
ORPHA:551 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Cataract |
ORPHA:79238 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Cataract, Premature ovarian insuff... |
ORPHA:79239 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Progressive neurologic deterioration, Aggressive behavior, Optic atrophy, Abnormal ... |
OMIM:300438 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Choreoathetosis, Emotional... |
ORPHA:98890 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Optic atrophy, Hepatosplenomegaly, Hepatic fibrosis, Intention tremor |
ORPHA:466794 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Hyperactivity, Optic atrophy |
OMIM:274270 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Retinal coloboma, Hypogonadism, Rod-cone d... |
ORPHA:363741 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:615085 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... |
ORPHA:791 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Dysphagia, Athetosis, Dementia, Leber optic atrophy, Dystonia |
OMIM:500001 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Choreoathetosis,... |
ORPHA:79312 |
Cach Syndrome |
|
Cataract, Premature ovarian insufficiency, Progressive neurologic deterioration, Optic atrophy, S... |
ORPHA:135 |
Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... |
ORPHA:268882 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Spinocerebellar Ataxia 7 |
|
Tremor, Optic atrophy, Macular degeneration, Pigmentary retinopathy, Dysphagia, Mental deterioration |
OMIM:164500 |
Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Attention de... |
OMIM:261600 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Tremor, Depression, Memory impairm... |
ORPHA:79095 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Optic disc pallor, Dystonia, Dysphagia, Pancreatitis |
OMIM:618230 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... |
OMIM:152950 |
Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Dep... |
ORPHA:228346 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Primary amenorrhea, Optic atrophy, Secondary amenorrhea |
OMIM:620314 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Cataract, Congenital hepatic fibrosis, Cryptorchidism, Displacement of the u... |
ORPHA:2377 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy, Severe temper tantrums, Hemidystonia |
OMIM:619052 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ... |
ORPHA:90790 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Mucolipidosis Iv |
|
Corneal opacity, Progressive neurologic deterioration, Optic atrophy, Opacification of the cornea... |
OMIM:252650 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Hypercholestero... |
ORPHA:247585 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Tremor, Optic atrophy, Dementia, Abnormal autonomic nervous system physiolog... |
ORPHA:329284 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Optic atrophy, Abnormal mitochondrial morphology, Attention deficit hyperactiv... |
ORPHA:99013 |
3-Methylglutaconic Aciduria, Type I |
|
Short attention span, Optic atrophy, Athetosis, Dementia, Cognitive impairment, Dystonia, Self-mu... |
OMIM:250950 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve |
ORPHA:449563 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy, Dysphagia, Intention tremor |
OMIM:620221 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Facial palsy, Aggressive behavior, Tremor, Abnormality ... |
ORPHA:97229 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Cognitive impairment |
OMIM:258501 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... |
OMIM:610198 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... |
ORPHA:168563 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
4H Leukodystrophy |
|
Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, T... |
ORPHA:289494 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Iris coloboma |
OMIM:618874 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Hepatomegaly, Optic atrophy, Irritability |
OMIM:607196 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Trisomy 20P |
|
Hypospadias, Cryptorchidism, Abnormal autonomic nervous system physiology, Cognitive impairment, ... |
ORPHA:261318 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Abnormality of the liver, Cataract, Optic atrophy |
ORPHA:44 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Galactokinase Deficiency |
|
Psychomotor deterioration, Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotr... |
ORPHA:79237 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Progressive neurologic deterioration, Tremor, Optic atrophy, Depression, D... |
ORPHA:254881 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund... |
ORPHA:290 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Microphthalmia, Isolated 4 |
|
Coloboma, Absent testis |
OMIM:613094 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Tremor, Progressive psychomotor... |
ORPHA:363400 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... |
ORPHA:585 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... |
ORPHA:649929 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm... |
ORPHA:324737 |
Stt3B-Cdg |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
ORPHA:370924 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Confusion, Hepatosplenomegaly, Depres... |
ORPHA:309288 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Decreased liver function, Cholestasis |
ORPHA:570422 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
OMIM:615597 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, De... |
OMIM:271245 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Depression, Pigmentary retinopathy, Dementia, Progressive language deteriorati... |
ORPHA:79264 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Abnormal retinal morphology, Dysphagia |
ORPHA:89844 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Dystonia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropenia, Pancreatit... |
ORPHA:289916 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Optic atrophy, Dysphagia, Irritability, Dystonia |
OMIM:618226 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopat... |
OMIM:222300 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Postural tremor, Cataract, Optic atrophy, Cognitive impairment |
OMIM:270800 |
Optic Atrophy 11 |
|
Hyperactivity, Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Athetosis, S... |
OMIM:617302 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Facial palsy, Optic atrophy, Depression, Optic neuritis, Cognitive i... |
ORPHA:254886 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Astigmatism, Optic atrophy, Depression |
OMIM:248000 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Myotonic Dystrophy 1 |
|
Cataract, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, T... |
OMIM:160900 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Impotence, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Abnormal sensory ne... |
ORPHA:88628 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic ... |
OMIM:249270 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, Tremor,... |
OMIM:615673 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... |
ORPHA:99330 |
Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Rod-cone dystrophy |
ORPHA:772 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Emotional lability, Primary... |
OMIM:603896 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract, Vaginal hernia |
ORPHA:3173 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Dysphagia, Self-injurious behavior, Astigmatism, Chor... |
ORPHA:494344 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, Astigmatism, Polydipsi... |
OMIM:615986 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Cataract, Morning glory anomaly, Optic atrophy, Dementia, Hypogonadism, Cognit... |
ORPHA:98673 |
Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Irritabili... |
ORPHA:644 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Zellweger Syndrome |
|
Hepatomegaly, Posterior embryotoxon, Cataract, Abnormal chorioretinal morphology, Corneal opacity... |
ORPHA:912 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... |
OMIM:214110 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... |
OMIM:300578 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Cataract, Microcytic anemia, Optic atrophy, Coloboma, Dysphagia |
OMIM:612379 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Spastic Ataxia 4, Autosomal Recessive |
|
Emotional lability, Optic atrophy |
OMIM:613672 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, Dysphagia, Prolonged neonatal jaundice, Dystonia, Mental deterioration |
OMIM:618868 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Classic Phenylketonuria |
|
Cataract, Tremor, Depression, Self-injurious behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:79254 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Peripheral axonal neuropathy, Hyperactivity, Imp... |
ORPHA:35069 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Optic atrophy, Oromandibular d... |
ORPHA:52368 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Low... |
ORPHA:363686 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,... |
OMIM:610125 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Retinal degen... |
ORPHA:157850 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ... |
ORPHA:496790 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Dysphagia, Cherry red... |
ORPHA:93399 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a... |
ORPHA:1173 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Dysphagia, Opisthotonus, Pigmentary retinopathy, Attenti... |
ORPHA:216866 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Carney Complex |
|
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma... |
ORPHA:1359 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Reduced s... |
OMIM:615434 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Thymus hyperplasia, Testicu... |
ORPHA:744 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Cri-Du-Chat Syndrome |
|
Short attention span, Hyperactivity, Cataract, Hypospadias, Aggressive behavior, Cryptorchidism, ... |
OMIM:123450 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Leukopenia, Pa... |
ORPHA:27 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism |
ORPHA:1381 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Shawl sc... |
OMIM:617516 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Facial palsy, Head titubation, Optic atrophy, Choreoat... |
OMIM:608804 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, T lymphocytopen... |
OMIM:619313 |
Wagro Syndrome |
|
Decreased testicular size, Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustra... |
OMIM:612469 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Abnormal repeti... |
ORPHA:649 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Aniridia, Micropenis |
OMIM:602361 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Impulsivity, Precocious puberty, Bruxism, Agitation, Attention deficit hyperactivity disorder, Dy... |
OMIM:619950 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Joubert Syndrome 9 |
|
Retinal dystrophy, Hepatic fibrosis, Astigmatism, Cataract |
OMIM:612285 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Head titubation, Optic atrophy, Hypospadias, Intention tremor |
OMIM:618688 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Hypercholesterolemia, Bilateral cryptorchidism, Astig... |
OMIM:619471 |
Leigh Syndrome |
|
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Dystonia, Emotional lability |
OMIM:256000 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... |
OMIM:612674 |
Opticocochleodentate Degeneration |
|
Mental deterioration, Optic atrophy |
OMIM:258700 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Optic atrophy, Hypogonadism, Dystonia, Rod-cone dystrophy |
ORPHA:254913 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Cholecystitis, Dysto... |
OMIM:250100 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Optic disc coloboma, Irritability, Cholestatic liver disease, Steatorr... |
ORPHA:92050 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Keratitis, Splenomegaly, Jaundice, Tr... |
ORPHA:525731 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Developm... |
OMIM:615663 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Splenomegaly... |
OMIM:216360 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Thrombocytopenia, Leukopenia, Microp... |
OMIM:617053 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... |
ORPHA:66634 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Cataract, Premature ovarian insufficiency, Elevated circulating a... |
OMIM:230400 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Splenomegaly |
OMIM:252920 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Thrombocytopenia |
ORPHA:49827 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Generalized dystonia, Writer's cramp, Tremor, Head titubation, Optic a... |
OMIM:312080 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomega... |
ORPHA:93400 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic... |
ORPHA:401777 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Progressive neurologic deterioration, Optic atrophy, Dysphagia, Irritability, Neutro... |
OMIM:618253 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Xanthelasma, Pseudobulbar paralysis, Dementia, Abnormality of centra... |
OMIM:213700 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Motor deterioration, Dysphagia, Rod-cone dystrophy |
OMIM:252930 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Fluctu... |
OMIM:610377 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Progressive language deteri... |
ORPHA:163681 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Warburg Micro Syndrome 3 |
|
Cataract, Small scrotum, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... |
OMIM:614222 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Dystonia, Decreased nerve conduction velocity, Optic atrophy, Progressive p... |
ORPHA:309271 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Impulsivity, Tremor, Optic atrophy,... |
OMIM:614298 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:261534 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Optic atrophy, Increas... |
OMIM:261680 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... |
ORPHA:899 |
Wildervanck Syndrome |
|
Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretinal coloboma, I... |
ORPHA:139471 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the pancreas, Cryptorchi... |
ORPHA:3376 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis,... |
ORPHA:1451 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte... |
OMIM:619487 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, O... |
OMIM:609033 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... |
OMIM:598500 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... |
ORPHA:2969 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Mental deterioration, Macular degeneration, Cataract, Dysphagia |
OMIM:619780 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypo... |
OMIM:614225 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Microcytic anemia, Cryptorchidism, Primary amenorrhea, Abnormal op... |
ORPHA:293967 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Conjunctivitis, Anemia |
ORPHA:575 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy, Cognitive impairment |
ORPHA:588 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Progressive psychomotor deterioration, Optic atrophy, Sea-blue histio... |
OMIM:230600 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... |
ORPHA:2510 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Distal Deletion 13Q |
|
Ambiguous genitalia, Optic atrophy, Iris coloboma, Cognitive impairment |
ORPHA:1590 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Hyperactivity, Precocious puberty in females, Aggressive behavior... |
ORPHA:72 |
Transketolase Deficiency |
|
Hepatomegaly, Cataract, Secondary amenorrhea, Self-injurious behavior, Conjunctivitis, Attention ... |
ORPHA:488618 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Sple... |
OMIM:615512 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Hand tremor, Dysphagia, Dystonia, Mental deterioration, Motor axonal neuropathy |
ORPHA:289560 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Pancreatic fibrosis, Abnormal chorioretinal morphology, Sclerocornea,... |
ORPHA:564 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... |
ORPHA:309263 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Retinal dystrophy, Aplastic anemia, Pancreat... |
OMIM:617052 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental cataract, Vitreous hemor... |
OMIM:620185 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Cataract, Premature ovarian insufficiency, Female h... |
OMIM:240300 |
Aspartylglucosaminuria |
|
Hepatomegaly, Cataract, Vacuolated lymphocytes, Neutropenia, Macroorchidism |
OMIM:208400 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Vaginal atresia, Iri... |
ORPHA:3301 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Hypospadias, Elevated circulating aspart... |
OMIM:614866 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Facial p... |
OMIM:259700 |
Mucopolysaccharidosis Type 2 |
|
Progressive neurologic deterioration, Abnormal repetitive mannerisms, Oppositional defiant disord... |
ORPHA:580 |
Cerebral Visual Impairment |
|
Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr... |
ORPHA:447788 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Emotional lability, Corneal ulceration, Abnormal auto... |
OMIM:256800 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Optic disc pallor, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Spleno... |
OMIM:259720 |
Werner Syndrome |
|
Cataract, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:277700 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Precocious puberty, Tremor, Cherry red spot o... |
ORPHA:845 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, ... |
OMIM:209900 |
Leber Optic Atrophy |
|
Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb... |
OMIM:535000 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ... |
OMIM:609541 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Optic atrophy, Hypopl... |
ORPHA:261552 |
Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decreased amplitude of sensory action po... |
ORPHA:2388 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Optic atrophy, Dysphagia, Dystonia, Mental dete... |
OMIM:610217 |
Intermediate Uveitis |
|
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... |
ORPHA:279914 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... |
OMIM:269200 |
Joubert Syndrome 8 |
|
Hepatomegaly, Pigmentary retinopathy, Optic disc pallor, Prolonged neonatal jaundice |
OMIM:612291 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly |
ORPHA:466934 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Cataract, Tremo... |
ORPHA:90321 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Acanthocytosis, Tremor, Optic atrophy, Phonic tics, Depression, Choreo... |
OMIM:234200 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Progressive psychomotor deterioration, Juvenile cataract, Depression, Cognit... |
ORPHA:909 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Optic atrophy, Irritability |
ORPHA:99742 |
Aspartylglucosaminuria |
|
Splenomegaly, Hepatomegaly, Macroorchidism |
ORPHA:93 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Cryptorch... |
OMIM:236670 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Progressive neurologic deterioration, Chorioretinal hyperpigmentat... |
OMIM:618329 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ... |
OMIM:207800 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Leprosy |
|
Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s... |
ORPHA:548 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy |
OMIM:601539 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Cataract, Corneal opacity, Progressive neurologic deterioration, Ade... |
ORPHA:581 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Aggressive behavior, Optic disc coloboma, He... |
OMIM:213300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Optic atrophy, He... |
ORPHA:79330 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Re... |
OMIM:243605 |
Cockayne Syndrome A |
|
Hepatomegaly, Retinal atrophy, Cataract, Abnormal peripheral myelination, Abnormal auditory evoke... |
OMIM:216400 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Dysphagia, Blepharospasm, Athetosis, Pigmentary retinopathy, Dy... |
OMIM:617282 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cone/cone-rod dystrophy, Optic disc pallor, Nodular ... |
ORPHA:404454 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Dystonia, Emotional lability |
ORPHA:309256 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Retinal atrophy, Retinal dystroph... |
ORPHA:90324 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Retinal detachment, Abnormality of retinal pigmentat... |
ORPHA:394 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Optic atrophy, Developmental catar... |
OMIM:613154 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Optic atrophy, Depression, Head tremor, Mental deterioration, Memory im... |
ORPHA:314404 |
Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly, Conjunctivitis, Optic atrophy |
OMIM:253260 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Cryptorchid... |
ORPHA:847 |
Chops Syndrome |
|
Splenomegaly, Cataract, Optic atrophy, Cryptorchidism |
OMIM:616368 |
Cockayne Syndrome |
|
Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Intention tremor, Hepatomegal... |
ORPHA:191 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Decreased li... |
OMIM:614863 |
Wolfram Syndrome 2 |
|
Optic neuropathy, Optic atrophy, Primary amenorrhea, Depression, Oligomenorrhea |
OMIM:604928 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Hyperparathyroidism, Anemia |
OMIM:620366 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Legius Syndrome |
|
Short attention span, Hyperactivity, Cataract, Dystonia, Acute monocytic leukemia, Neurofibroma, ... |
ORPHA:137605 |
Wolfram Syndrome |
|
Abnormal mesentery morphology, Optic atrophy, Dementia, Hypogonadism, Abnormal autonomic nervous ... |
ORPHA:3463 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macular hypoplasia,... |
OMIM:147791 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
De Sanctis-Cacchione Syndrome |
|
Keratitis, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Gonadal hypoplasia, Chor... |
OMIM:278800 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... |
OMIM:615688 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, L... |
OMIM:260920 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Papilledema, Thrombocytopenia |
OMIM:618775 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Posterior embryotoxon, Cataract, Hypertriglyceridemia, Hepatocellu... |
OMIM:118450 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Orthostatic hypotension, Corneal opacity, Abnormal pupil morpholo... |
ORPHA:1764 |
Pagod Syndrome |
|
Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genital... |
ORPHA:991 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadism |
OMIM:610651 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Cockayne Syndrome B |
|
Hepatomegaly, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased ner... |
OMIM:133540 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia |
OMIM:612301 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri... |
OMIM:614077 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Cryptorchidism, Thrombocyt... |
OMIM:305000 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Aggressive behavior, Tremor, Optic atrophy, Head-ban... |
ORPHA:86309 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Cryptorchidism, Attention deficit hyperactivity disorder, Polys... |
OMIM:614294 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Anisocoria, Abnorma... |
OMIM:231550 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Sclerocorne... |
OMIM:206900 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Corneal opacity, Splenomegaly, Abnormality of the spleen, Thrombocytop... |
ORPHA:2072 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Polyphagia, Self-... |
ORPHA:96121 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,... |
ORPHA:805 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Supernumerary nipple, Retina... |
OMIM:308300 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Memory impairment, Dementia, Optic atrophy, Depression |
OMIM:604121 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Papilledema, Developmental cataract, Retinal calcification, Congenital hypoparathyroidism, Decrea... |
ORPHA:93325 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Hypoplasia of the ovary, ... |
OMIM:619321 |
Phace Association |
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Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
African Trypanosomiasis |
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Hepatomegaly, Papilledema, Abnormality of the menstrual cycle, Keratitis, Splenomegaly, Jaundice,... |
ORPHA:3385 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Splenomegaly, Cataract, Optic atrophy, Dysphagia |
OMIM:617913 |
Autosomal Dominant Optic Atrophy And Cataract |
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Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... |
ORPHA:67036 |
Leptospirosis |
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Hepatomegaly, Papilledema, Macular cotton wool spot, Anorexia, Jaundice, Hepatitis, Retinal hemor... |
ORPHA:509 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Arima Syndrome |
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Hepatomegaly, Retinal dystrophy, Optic atrophy, Hepatic fibrosis, Chorioretinal coloboma, Cirrhos... |
OMIM:243910 |
Blau Syndrome |
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Cataract, Facial palsy, Abnormal retinal vascular morphology, Splenomegaly, Retrobulbar optic neu... |
ORPHA:90340 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the spleen, Cryptorchidism, Abnormal r... |
ORPHA:1606 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Elevated hepatic transaminase, Small scrotum, External genital hypoplasia, Cryptorchidism, Jaundi... |
OMIM:614231 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Hypospadias, Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Reti... |
ORPHA:508498 |
Camurati-Engelmann Disease |
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Hepatomegaly, Facial palsy, Anorexia, Splenomegaly, Optic atrophy, Leukopenia, Hypogonadism, Opti... |
ORPHA:1328 |
Kenny-Caffey Syndrome, Type 2 |
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Hypoparathyroidism, Papilledema, Developmental cataract, Retinal calcification, Anemia |
OMIM:127000 |
Knobloch Syndrome 1 |
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Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat... |
OMIM:267750 |
Joubert Syndrome 21 |
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Splenomegaly, Optic atrophy, Megalopapilla, Dysphagia, Retinopathy |
OMIM:615636 |
Osteopetrosis With Renal Tubular Acidosis |
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Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Crani... |
ORPHA:2785 |
Pineoblastoma |
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Papilledema, Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Retin... |
ORPHA:251909 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... |
OMIM:300166 |
Lymphangioleiomyomatosis |
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Retinal hamartoma, Abnormality of the lymphatic system, Optic atrophy, Lymphadenopathy, Cognitive... |
ORPHA:538 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Elevated hepatic transaminase, Retinal dystrophy, Hypospadias, Supernumerary nipple, Subretinal d... |
ORPHA:397715 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... |
ORPHA:64 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... |
ORPHA:91500 |
Ramon Syndrome |
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Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora |
OMIM:266270 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... |
OMIM:157170 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |