Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Mazabraud Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones |
ORPHA:57782 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Osteopenia, Decreased calvarial ossification, Multiple prenatal fractures, J... |
OMIM:610915 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Type II diabetes mellitus, Anxiety, Progressive hearing impairm... |
OMIM:614296 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:1802 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, EEG abnormality, Mental deterioration, Retinal dystrophy |
OMIM:614706 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:165199 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Abnormal bone structure |
ORPHA:46532 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Emotional lability |
OMIM:613672 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Psychomotor deterioration, Rod-cone dystrophy |
OMIM:609055 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Hearing impairment, Peripheral axonal neuropathy |
OMIM:617087 |
Caffey Disease |
|
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... |
OMIM:114000 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
Familial Expansile Osteolysis |
|
Osteolysis, Thin bony cortex, Pathologic fracture |
OMIM:174810 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Caffey Disease |
|
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... |
ORPHA:1310 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density |
ORPHA:970 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Abnormal bone ossification, Epiphyseal stippling |
ORPHA:1952 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, EEG abnormality, Chorioretinal coloboma |
ORPHA:2732 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture |
ORPHA:166277 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Hearing impairment |
OMIM:165300 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis |
ORPHA:1525 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis |
OMIM:166260 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
EEG abnormality, Mental deterioration, Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Wolfram-Like Syndrome |
|
Abnormal pinna morphology, Congenital sensorineural hearing impairment, Anxiety, Peripheral axona... |
ORPHA:411590 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor, Dementia |
OMIM:182830 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Periventricular Nodular Heterotopia 7 |
|
Optic atrophy, Hearing impairment, Cryptorchidism |
OMIM:617201 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... |
OMIM:600785 |
Merrf |
|
Sensorineural hearing impairment, Optic atrophy, Cognitive impairment |
ORPHA:551 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Mental deterioration, Oni... |
OMIM:609260 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... |
ORPHA:457205 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment |
ORPHA:2246 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Peripheral retinal degeneration |
OMIM:609021 |
Liberfarb Syndrome |
|
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Opti... |
OMIM:618889 |
Metatropic Dysplasia |
|
Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Abnormal enchondr... |
ORPHA:2635 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Proteus Syndrome |
|
Facial hyperostosis, Thin bony cortex, Mandibular hyperostosis, Calvarial hyperostosis |
OMIM:176920 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Retinohepatoendocrinologic Syndrome |
|
Infertility, Maturity-onset diabetes of the young, Cone dystrophy, Hypothyroidism, Optic disc pallor |
OMIM:268040 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Cognitive impairment |
ORPHA:1171 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
EEG abnormality, Retinal degeneration, Macular degeneration, Optic atrophy, Psychomotor deteriora... |
OMIM:256730 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Anxiety, Peripheral axonal neuropathy, Optic atrophy, Premature ovarian insufficiency |
OMIM:619425 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy, Cognitive impairment |
OMIM:615035 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Progressive hearing impairment, Retinal arteriolar constriction, Bilateral sensorine... |
OMIM:124950 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Periphera... |
OMIM:617519 |
Grant Syndrome |
|
Abnormal cortical bone morphology, Joint hyperflexibility, Decreased skull ossification |
ORPHA:2097 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Anxiety, Optic atrophy, Psychomot... |
OMIM:204200 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Mental deterioration |
OMIM:258700 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:1486 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Emotional lability |
ORPHA:98890 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cognitive impairment, Sensory axonal neuropathy, Optic atrophy, Adult onset sensorineural hearing... |
ORPHA:329314 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Irritability, Cognitive impairment, Retinopathy, Optic atrophy, Emotional lability, Violent behav... |
ORPHA:216873 |
Leukodystrophy, Hypomyelinating, 21 |
|
Optic atrophy, Hypogonadotropic hypogonadism, Cryptorchidism, Mental deterioration |
OMIM:619310 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia, Cognitive impairment |
OMIM:613909 |
Gorham-Stout Disease |
|
Osteomyelitis, Abnormal bone ossification, Osteopenia, Osteolysis involving bones of the lower li... |
ORPHA:73 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Segmental peripheral demyelination/remyelin... |
OMIM:311070 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Hearing impairment, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility, Cognitive impairment |
ORPHA:276183 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy, Hearing impairment |
OMIM:309555 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Supernumerary nipple, Hypogonadotropic hypogonadism, Abnorma... |
ORPHA:1173 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Anxiety, Retinal thinning |
OMIM:618970 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Hearing impairment, Rod-cone dystrophy |
OMIM:617717 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Multifocal epileptiform discharges, Hearing impairment, Irritability |
OMIM:609056 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy |
OMIM:616389 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic atrophy, Optic disc pallor, Hypsarrhythmia |
OMIM:618776 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Optic neuritis, Peripheral demyelination |
OMIM:165200 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen |
OMIM:618632 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614181 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Hearing impairment |
OMIM:614504 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy |
OMIM:616171 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Cognitive impairment |
OMIM:258501 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hyperinsulinemia, Type II diabet... |
ORPHA:791 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Hemimegalencephaly |
|
EEG with focal spikes, EEG with polyspike wave complexes, EEG with burst suppression, Optic atrop... |
ORPHA:99802 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Thin bony cortex, Joint laxity, Joint hypermobility, Generalized osteoporosis |
OMIM:617952 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... |
OMIM:600081 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impairment, Aganglio... |
OMIM:600501 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Riboflavin Transporter Deficiency |
|
Abnormal autonomic nervous system physiology, Abnormality of macular pigmentation, Progressive he... |
ORPHA:97229 |
Neurodegeneration With Brain Iron Accumulation |
|
Optic atrophy, Retinopathy |
ORPHA:385 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Facial diplegia, Papilledema, Elevated circulating parathyroid hormone level, Optic atrophy, Hear... |
OMIM:122860 |
Leukoencephalopathy With Vanishing White Matter |
|
Emotional lability, Primary amenorrhea, Memory impairment, Optic atrophy, Secondary amenorrhea, P... |
OMIM:603896 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
Optic Atrophy 9 |
|
Optic atrophy |
OMIM:616289 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Hearing impairment, Facial palsy |
ORPHA:178377 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Retinal degeneration, Attenuation of retinal blood vessels, Geo... |
OMIM:619260 |
Narp Syndrome |
|
Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar to... |
ORPHA:644 |
Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology |
ORPHA:3344 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy |
ORPHA:85297 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Mental deterioration, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
3-Methylglutaconic Aciduria Type 9 |
|
Optic atrophy, EEG abnormality, Aggressive behavior, Hypsarrhythmia |
ORPHA:505216 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Optic atrophy, Hypsarrhythmia |
OMIM:617086 |
Canavan Disease |
|
EEG abnormality, Abnormality of retinal pigmentation, Cognitive impairment, Optic atrophy, Hearin... |
ORPHA:141 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive psychomotor deterioration, EEG with focal epileptiform discharges, Optic atrophy, Foc... |
ORPHA:263516 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
EEG abnormality, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... |
ORPHA:137902 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Aggressive behavior, Abnormal autonomic nervous system physiology, Dementia |
ORPHA:329284 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Leber optic atrophy, Dementia |
OMIM:500001 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Diencephalic Syndrome |
|
Optic atrophy, Abnormality of the hypothalamus-pituitary axis, Long penis, Macrotia |
ORPHA:1672 |
Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Retinal degeneration, Progressive neurologic deterioration, Opt... |
OMIM:300438 |
Neuronal Intranuclear Inclusion Disease |
|
Optic atrophy, EEG abnormality, Dementia |
ORPHA:2289 |
Null Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... |
ORPHA:280234 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Sensorineural hearing impairment, Retinal dystrophy, Cognitive impairment |
OMIM:614877 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Re... |
OMIM:251270 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... |
OMIM:300476 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cognitive impairment, EEG with generalized epileptiform discharges, EEG with abnormally slow freq... |
ORPHA:1947 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Irritability... |
ORPHA:206443 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Adult Krabbe Disease |
|
EEG abnormality, Mental deterioration, Progressive neurologic deterioration, Erectile dysfunction... |
ORPHA:206448 |
Jalili Syndrome |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:217080 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Progressive language deterioration, Cognitive impairment, Anxiety, Pigmenta... |
ORPHA:79264 |
Sarcosinemia |
|
Optic atrophy, Infantile sensorineural hearing impairment, Emotional lability |
ORPHA:3129 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... |
ORPHA:85188 |
Krabbe Disease |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Motor deterioration, Hearing... |
OMIM:245200 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Sensorineural hearing impairment, Optic atrophy, Optic disc pallor |
OMIM:612989 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
3-Methylglutaconic Aciduria, Type I |
|
Optic atrophy, Cognitive impairment, Dementia, Self-mutilation |
OMIM:250950 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, EEG abnormality, Hypsarrhythmia, Multifocal epileptiform discharges |
OMIM:617166 |
Folinic Acid-Responsive Seizures |
|
Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Multifocal epileptiform discharg... |
ORPHA:79097 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Cherry red spot of the macula, Irritability, Mental deterior... |
ORPHA:206436 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy |
OMIM:617460 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Hearing impairment, Abnormal nerve conduction velocity |
ORPHA:99014 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... |
OMIM:264700 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, EEG abnormality, Vaginal hernia |
ORPHA:3173 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Wildervanck Syndrome |
|
Hearing impairment, Pseudopapilledema |
OMIM:314600 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Stt3B-Cdg |
|
Optic atrophy, Cryptorchidism, Small scrotum, Micropenis |
ORPHA:370924 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
OMIM:300009 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy, Emotional lability |
ORPHA:254343 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Spinocerebellar Ataxia Type 1 |
|
Cognitive impairment, Memory impairment, Optic atrophy, Abnormality of somatosensory evoked poten... |
ORPHA:98755 |
Leber Congenital Amaurosis |
|
Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Cryptorchidism, Small scrotum, Micropenis |
OMIM:615597 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Joint hyperfl... |
ORPHA:2484 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Sensorineural hearing impairment, Cognitive impairment, Morning glory anomaly, Temporal optic dis... |
ORPHA:98673 |
Optic Pathway Glioma |
|
Optic atrophy, Precocious puberty, Papilledema, Neurofibromas |
ORPHA:2086 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
3-Methylglutaconic Aciduria, Type V |
|
Optic atrophy, Hypospadias, Cryptorchidism, Decreased testicular size |
OMIM:610198 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Optic disc pallor, Irritability, Cherry red spot of the macula |
OMIM:615281 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, D... |
OMIM:249270 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
Wolfram Syndrome, Mitochondrial Form |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Optic atrophy, Di... |
OMIM:598500 |
Neonatal Adrenoleukodystrophy |
|
Sensorineural hearing impairment, EEG abnormality, Abnormality of retinal pigmentation, Low-set, ... |
ORPHA:44 |
Wolfram Syndrome 1 |
|
Sensorineural hearing impairment, Testicular atrophy, Pigmentary retinopathy, Optic atrophy, Hypo... |
OMIM:222300 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... |
ORPHA:909 |
Leukodystrophy, Hypomyelinating, 2 |
|
Cognitive impairment, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Optic... |
OMIM:608804 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... |
ORPHA:289157 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Impotence, Abnormal autonomic nervous system physiology, Cognit... |
ORPHA:99027 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased number of large ... |
ORPHA:101085 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Self-injurious behavior |
OMIM:613638 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Progressive neurologic deterioration |
OMIM:618253 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Abnormal emotion/affect behavior, Pulsatile tinnitus |
ORPHA:238624 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Abnormal p... |
OMIM:216400 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Cholelithiasis, Retinal degeneration |
OMIM:214980 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials |
OMIM:193700 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Optic atrophy, Retinal arteriolar constriction |
OMIM:249660 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Madras Motor Neuron Disease |
|
Sensorineural hearing impairment, Optic atrophy, Tinnitus, Facial palsy |
ORPHA:137867 |
Pachydermoperiostosis |
|
Osteomyelitis, Osteoporosis, Arthritis, Osteolysis, Abnormal cortical bone morphology, Limitation... |
ORPHA:2796 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Tinnitus, Mild neuro... |
OMIM:601152 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital sensorineural hearing impairment, Protruding ear, Congenital stationary night blindnes... |
ORPHA:293967 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cryptorchidism, Pigmentary retinopathy, Optic atrophy, Male ... |
ORPHA:90321 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Distal Monosomy 13Q |
|
Optic atrophy, Ambiguous genitalia, Primary adrenal insufficiency, Cognitive impairment |
ORPHA:1590 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... |
OMIM:616469 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, EEG abnormality, Mental deterioration |
OMIM:618868 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Sensorineural hearing impairment, Optic atrophy, Memory impairment, Dementia |
OMIM:604121 |
Muscle-Eye-Brain Disease |
|
Optic atrophy, EEG abnormality, Cognitive impairment |
ORPHA:588 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy |
ORPHA:1021 |
Zika Virus Disease |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... |
ORPHA:448237 |
Stüve-Wiedemann Syndrome |
|
Recurrent fractures, Flexion contracture of finger, Flexion contracture, Osteopenia, Camptodactyl... |
ORPHA:3206 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Bone spic... |
OMIM:268315 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, External... |
ORPHA:79330 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Aica-Ribosuria Due To Atic Deficiency |
|
Optic atrophy, Low-set ears, Clitoral hypertrophy, Fused labia minora |
OMIM:608688 |
Juvenile Glaucoma |
|
Optic neuropathy, Increased cup-to-disc ratio, Temporal optic disc pallor, Retinal arterial occlu... |
ORPHA:98977 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Low-set ears, Testicular atrophy |
OMIM:601163 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Sensorineural hearing impairment, Decreased nerve conduction velocity, Rod-cone dy... |
OMIM:612674 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Testicular atrophy, Hypergonadotropic hypogonadism, Primary ame... |
OMIM:157640 |
Leber Optic Atrophy |
|
Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy |
OMIM:535000 |
Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Mental deterioration, Optic atrophy, Emotional lability, Per... |
OMIM:250100 |
Dent Disease |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
ORPHA:1652 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Abnormal cortical bone morphology, Increased susceptibility to fractures |
ORPHA:2769 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Congenital sensorineural hearing impairment, EEG with focal epileptiform discharges, Decreased mo... |
ORPHA:1187 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Apathy, Decreased serum testosterone concentration, ... |
ORPHA:465508 |
Norrie Disease |
|
Sensorineural hearing impairment, Retinal detachment, Optic atrophy, Aggressive behavior, Retinal... |
OMIM:310600 |
Wolfram Syndrome 2 |
|
Sensorineural hearing impairment, Optic neuropathy, Oligomenorrhea, Primary amenorrhea, Optic atr... |
OMIM:604928 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Abnormal peripheral myelination, Dec... |
OMIM:133540 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Decreased sensory nerve conduction velocity, Cognitive impairment, Onion bulb f... |
ORPHA:320375 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Motor axonal neuropathy, Sensory axonal neuropathy |
OMIM:609541 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Optic disc pallor, Facial palsy |
OMIM:611490 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Bilateral sensorineural hearing impairment, Progressive psyc... |
ORPHA:309271 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... |
OMIM:300578 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... |
ORPHA:320406 |
Aarskog-Scott Syndrome |
|
Large earlobe, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, El... |
OMIM:305400 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Micropenis, Optic atrophy, Asymmetry of the ears, Macrotia, Cryptorchidism, Hypopl... |
OMIM:614225 |
Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:615233 |
Multiple Sulfatase Deficiency |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Optic atrophy, Rapid neuro... |
ORPHA:585 |
Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Absent gallbladder, Abnormal ... |
ORPHA:171929 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Hypsarrhy... |
ORPHA:485421 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic atrophy, Optic neuropathy, Hearing impairment |
OMIM:618249 |
Xeroderma Pigmentosum, Complementation Group B |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Pigmentary retinopathy, Op... |
OMIM:610651 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Abnormal ... |
ORPHA:2658 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Optic neuropathy, Optic disc pallor, Sensorineural hearing impairment, Decreased motor nerve cond... |
ORPHA:101076 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Vestibular areflexia |
ORPHA:504476 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Progressive psychomotor deterioration, Optic atrophy, Emotio... |
ORPHA:309263 |
Mend Syndrome |
|
Low-set ears, Aggressive behavior, Cryptorchidism, Abnormal auditory evoked potentials |
ORPHA:401973 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Papilledema, ... |
ORPHA:54595 |
Wolfram Syndrome |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Optic atrophy, Ma... |
ORPHA:3463 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Decreased ... |
OMIM:231550 |
Pineoblastoma |
|
Retinoblastoma, Cognitive impairment, Papilledema, Progressive neurologic deterioration, Memory i... |
ORPHA:251909 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormality of central somatosensory evoked potentials, Optic disc pallor, EEG wi... |
OMIM:213700 |
Meningioma |
|
Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hy... |
ORPHA:2495 |
Peroxisome Biogenesis Disorder 4B |
|
Sensorineural hearing impairment, Adrenal insufficiency, Decreased nerve conduction velocity, Rod... |
OMIM:614863 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,... |
ORPHA:1435 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Aniridia 2 |
|
Optic atrophy |
OMIM:617141 |
Oculodentodigital Dysplasia |
|
Abnormal cortical bone morphology, Cranial hyperostosis, Hyperostosis, Camptodactyly of finger |
ORPHA:2710 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Hypertensive retinopathy, Papilledema, Papillary cystadenoma of the epi... |
ORPHA:892 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... |
OMIM:616959 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Optic atrophy, Absent earlobe, EEG abnormality, Aplasia/Hypoplasia of the earlobes |
OMIM:609037 |
7Q11.23 Microduplication Syndrome |
|
Large earlobe, Self-injurious behavior, Cryptorchidism, Overfolded helix, Hypospadias, Anxiety, L... |
ORPHA:96121 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Sensorineural hearing impairment, Hypoparathyroidism, Uterus didelphys, Primary amenorrhea, Septa... |
OMIM:146255 |
Steinert Myotonic Dystrophy |
|
Facial diplegia, Cholelithiasis, Testicular atrophy, Impotence, Hyperinsulinemia, Hypergonadotrop... |
ORPHA:273 |
Bardet-Biedl Syndrome 20 |
|
Rod-cone dystrophy, Micropenis, Papilledema, Retinal vascular tortuosity, Male hypogonadism, Bila... |
OMIM:619471 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Self-injurious behavior |
OMIM:300322 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Severe sensorineural hearing impairment, Low-set ears, Abnormal optic disc morphology |
ORPHA:363417 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
External genital hypoplasia, Optic atrophy, Hypsarrhythmia, Hypogonadism, Cryptorchidism, Diabete... |
OMIM:614231 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Granular macular appearance, Uterine neoplasm, Prostate cancer... |
ORPHA:71505 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
X-Linked Intellectual Disability, Snyder Type |
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Testicular atrophy, EEG abnormality, Cryptorchidism, Abnormality of the Leydig cells, Cupped ear,... |
ORPHA:3063 |
Phace Association |
|
Optic nerve hypoplasia, Congenital hypothyroidism, Optic atrophy, Horner syndrome, Lingual thyroi... |
OMIM:606519 |
Norrie Disease |
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Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal helix morphology, Abn... |
ORPHA:649 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Subretinal deposits, Supernumerary nipple, Overfolded helix, Hypospadias, Low-set, posteriorly ro... |
ORPHA:397715 |
Osteogenesis Imperfecta |
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Recurrent fractures, Flexion contracture, Osteopenia, Fractures of the long bones, Osteoarthritis... |
ORPHA:666 |
Aspartylglucosaminuria |
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Joint stiffness, Abnormal cortical bone morphology, Arthritis |
ORPHA:93 |
Pagod Syndrome |
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Agonadism, Optic atrophy, Ambiguous genitalia, Abnormal morphology of female internal genitalia, ... |
ORPHA:991 |
Pontocerebellar Hypoplasia Type 7 |
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Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... |
ORPHA:284339 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hypoplasia of the ovary, Micropenis, Optic nerve hypoplasia, Retinal dystrophy, Optic atrophy, De... |
OMIM:619321 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Retinal coloboma, Hypospadias, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morpholo... |
ORPHA:508498 |
Brittle Cornea Syndrome |
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Joint hyperflexibility, Osteoporosis, Increased susceptibility to fractures, Camptodactyly |
ORPHA:90354 |
Brittle Cornea Syndrome 2 |
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Recurrent fractures, Joint hypermobility |
OMIM:614170 |