Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluore... |
OMIM:204200 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central ne... |
OMIM:607136 |
Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Failure to thrive, Splenomegaly, Seizure, Ataxia, Bl... |
ORPHA:796 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Dysphagia, Cerebellar atrophy, Myopia, Caudate atrophy, Bradykinesia, Tremor, Seizure, ... |
OMIM:617435 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
Rapid-Onset Dystonia-Parkinsonism |
|
Dysphagia, Cerebellar atrophy, Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting... |
ORPHA:71517 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Dysphagia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, ... |
OMIM:261640 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Bilateral tonic-clonic seizure, Fa... |
OMIM:300423 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Gait disturbance, Dysphagia, Parkinsonism, Optic atrophy, Rigidity, Frequent falls, C... |
ORPHA:216873 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Visual loss, Ataxia, Blindness, Retinopathy... |
OMIM:610951 |
Juvenile Huntington Disease |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Seizure, Hy... |
ORPHA:248111 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... |
ORPHA:59181 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Malabsorption, Hearing impair... |
OMIM:613662 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Dysphagia, Cerebellar atrophy, Paresthesia, Shuffling gait, Bradykinesia, Cogwheel... |
ORPHA:254886 |
Huntington Disease |
|
Clumsiness, Gait imbalance, Decreased body mass index, Choking episodes, Seizure, Cerebral atroph... |
ORPHA:399 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Seizure, Visual loss, Progressive visual field defects, Cerebral atrophy, Dysmetria, ... |
ORPHA:79263 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Seizure, At... |
OMIM:551500 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... |
ORPHA:240103 |
Dystonia 16 |
|
Postural tremor, Dysphagia, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Pa... |
ORPHA:210571 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
ORPHA:36387 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... |
OMIM:300894 |
Severe Canavan Disease |
|
Babinski sign, Optic atrophy, Bilateral tonic-clonic seizure, Seizure, Decerebrate rigidity, Inab... |
ORPHA:314911 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... |
ORPHA:99852 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Seizure, Spast... |
OMIM:615528 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism |
OMIM:618317 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... |
OMIM:143100 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy, Seizure, Blindness, Spasticity, Severely reduced visual acuity |
OMIM:309555 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Progressive ... |
OMIM:256730 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
Dravet Syndrome |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:33069 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... |
OMIM:602433 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Global brain atrophy, Spastic hemiparesis, Seizure, Abnormal pyramidal sign, Progress... |
ORPHA:282166 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Dystonia, Cleft palate, Failure to thrive, Bradykinesia, Macrovesicular hepatic ste... |
OMIM:614924 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Optic atrophy, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Seizure, Cerebral at... |
ORPHA:329284 |
Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysphagia, Rigidity, Bradykinesia, Dysdiadochokinesis |
ORPHA:228169 |
Bietti Crystalline Dystrophy |
|
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... |
ORPHA:41751 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... |
OMIM:617225 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Babinski sign, Rigidity, Bradykinesia, Seizure, Hypertonia, Generalized dystonia, Parkinsonism, L... |
OMIM:618824 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Gait disturbance, Dysphagia, Dystonia, Gait imbalance, Optic atrophy, Cerebellar... |
ORPHA:98755 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, Generalized myo... |
OMIM:617836 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gl... |
OMIM:600116 |
Huntington Disease-Like 1 |
|
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... |
ORPHA:157941 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
Spinocerebellar Ataxia 2 |
|
Postural tremor, Dysphagia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Rod-con... |
OMIM:183090 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Clonus, Dysphagia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormal... |
ORPHA:13 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Dysphagia, Impaired distal proprioception, Rigidity, Steppage gait, Facial palsy, ... |
OMIM:258450 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Orthostatic hypotension, Myoc... |
ORPHA:97355 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Macrotia, Hyperhidrosis, Decreased body weight |
ORPHA:1672 |
Hypermanganesemia With Dystonia 2 |
|
Dystonia, Gait disturbance, Babinski sign, Cerebellar atrophy, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... |
ORPHA:521406 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Dysphagia, Cachexia, Peripheral axonal neuropathy, Dec... |
ORPHA:298 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dystonia, Optic atrophy, Dysmetria, Progressive visual loss, Hemiparesis, Visual loss, Incoordina... |
OMIM:601338 |
Kufor-Rakeb Syndrome |
|
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykine... |
OMIM:606693 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Rest... |
ORPHA:391411 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Falls, Shuffling gait, Bradykinesia, Subcortical cerebral atrophy, Resting tremor, Shor... |
ORPHA:306692 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Late-Onset Retinal Degeneration |
|
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... |
OMIM:605670 |
Leukodystrophy, Hypomyelinating, 14 |
|
Dystonia, Cerebellar atrophy, Seizure, Blindness, Spasticity, Cerebral atrophy |
OMIM:617899 |
Narp Syndrome |
|
Babinski sign, Retinal arteriolar tortuosity, Optic disc pallor, Myoclonic spasms, Corticospinal ... |
ORPHA:644 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Progressive visual loss, Central scotoma, Large central visual f... |
ORPHA:85128 |
Riboflavin Transporter Deficiency |
|
Progressive hearing impairment, Dysphagia, Optic disc pallor, Cachexia, Abnormal cranial nerve mo... |
ORPHA:97229 |
Machado-Joseph Disease |
|
Dystonia, Dysphagia, Babinski sign, Cerebellar atrophy, Rigidity, Gliosis, Abnormality of extrapy... |
OMIM:109150 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis |
OMIM:615615 |
Dystonia 12 |
|
Dystonia, Dysphagia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism |
OMIM:128235 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Weight loss, Barr... |
ORPHA:70482 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Babinski sign, High palate, Macroorchidism, Choreoathetosis, Obesity, Spastic gait, Shu... |
OMIM:300055 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Dysphagia, Cerebellar atrophy, P... |
OMIM:302800 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Seizure, Blindness, Spasticity |
ORPHA:85336 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Dystonia, Dysphagia, Leber optic atrophy, Optic atrophy, Bradykinesia, Visual loss, Sp... |
OMIM:500001 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... |
OMIM:606482 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Impaired oropharyng... |
ORPHA:53351 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Optic atrophy, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal... |
OMIM:619052 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Febrile seizure (within the age range of 3 months to 6 years), Visual loss, Seizure, ... |
ORPHA:206443 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Dysphagia, Optic disc pallor, Opisthotonus, Pigmentary retinopathy, Frequent fa... |
ORPHA:216866 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A... |
OMIM:614436 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Pigmentary retinopathy, Dysphagia, Optic disc pallor, Myoclonic spasms, Cerebellar at... |
ORPHA:79264 |
Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
Stargardt Disease 3 |
|
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment |
OMIM:600110 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Central scotoma, Macular dystrophy, Reduced visual acuity, Bull's eye maculopa... |
OMIM:616170 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, ... |
OMIM:612953 |
Spinocerebellar Ataxia Type 13 |
|
Clumsiness, Optic atrophy, Dysphagia, Optic disc pallor, Cerebellar atrophy, Torticollis, Myoclon... |
ORPHA:98768 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Gait disturbance, Rigidity, Neurodegeneration, Oromandibular dystonia, Bradykinesia, Sp... |
OMIM:615643 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... |
OMIM:615157 |
Dystonia 16 |
|
Postural tremor, Gait disturbance, Dysphagia, Involuntary movements, Parkinsonism, Bradykinesia, ... |
OMIM:612067 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Gait disturbance, Babinski sign, Rigidity, Frequent falls, Spastic gait, Hyperesthesia, Lower lim... |
ORPHA:100984 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spasticity, Babinski sign, Cleft palate, Hyporeflective spaces on macular OCT, Retina... |
ORPHA:506353 |
Moynahan Syndrome |
|
Sensorineural hearing impairment, Cachexia, Microcephaly |
ORPHA:2574 |
Christianson Syndrome |
|
Dysphagia, Cachexia, Cerebellar atrophy, Neuronal loss in central nervous system, Macrotia, Aplas... |
ORPHA:85278 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Rigidity, Degeneration of the striatum, Bradykinesia, Dysdiadochokinesis |
OMIM:609161 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... |
OMIM:600138 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Gait disturbance, Poor coordination, Failure to thrive, Megaloblastic anemia, Seizure, Blindness,... |
OMIM:250940 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Dysphagia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Neurodegen... |
OMIM:606159 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Cleft palate, Axonal degeneration, Brachial plexus neuropathy, Lo... |
OMIM:162100 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:1144 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Macular Dystrophy, Vitelliform, 5 |
|
Moderately reduced visual acuity, Central scotoma, Macular dystrophy, Reduced visual acuity, Vite... |
OMIM:616152 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Tractional retinal detachment, Small for gestational age, Abnormal... |
ORPHA:90050 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Gait disturbance, Dysphagia, Babinski sign, Optic atrophy, Rigidity, Frequent falls, Ha... |
ORPHA:289560 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Krabbe Disease |
|
Progressive spasticity, Optic atrophy, Failure to thrive, Neurodegeneration, Decreased nerve cond... |
OMIM:245200 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Gait disturbance, Failure to thrive, Megaloblastic anemia, Seizure, Blindness, Cerebral atrophy, ... |
OMIM:236270 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Obesity, Reduced visual acuity, Tremor, Ataxia, Seizure, Incoordination, Unsteady ... |
OMIM:614947 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Large for gestational age, Hearing im... |
OMIM:600501 |
Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Central scotoma, Macular dystrophy, Reduced visual acuity, Retinal p... |
OMIM:608051 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Abnormal neuron morphology, Falls, Shuffling gait, Bradykinesia, Short stepped shuffling gait, Di... |
ORPHA:412066 |
Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... |
ORPHA:726 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Rigidity, Neuronal loss in central nervous system, Gliosis, Shuffling gait, Bradykinesia, Apraxia... |
OMIM:221820 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Small for gestational age, Failure to thrive, Axonal degeneration... |
OMIM:604320 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Stereotypy, Seizure, Visual loss, Corpus callosum atrophy, Cerebral atrophy, Focal-onset seizure,... |
ORPHA:168491 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, High palate, Cerebellar atrophy, Facial diplegia, Hearing impairment, Low-set ears, Hyp... |
OMIM:618186 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Visual impairment, Macular edema, Rod-cone ... |
OMIM:613750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Protein-losing enteropathy, Bradykinesia |
OMIM:619063 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Gait disturbance, Dysphagia, Blindness, Chorea |
OMIM:607674 |
Cach Syndrome |
|
Optic atrophy, Dysphagia, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brain... |
ORPHA:135 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Migraine, Familial Hemiplegic, 3 |
|
Hemiparesis, Seizure, Blindness, Hemiplegia, Photophobia |
OMIM:609634 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, Abnormal lower motor neuron morph... |
ORPHA:93941 |
Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... |
ORPHA:227510 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... |
OMIM:619279 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Reduced visual acuity, Abnormality of extrapyramidal motor func... |
OMIM:165300 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Rigidity, Bradykinesia, Fasciculations, Decreased nerve conduction velocity, Ataxia, Spasticity |
OMIM:183050 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysphagia, Babinski sign, Optic atrophy, Cerebellar atrophy, Dysmetria, Chorea, Neurode... |
OMIM:610217 |
Sporadic Infantile Bilateral Striatal Necrosis |
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Gait disturbance, Dysphagia, Dystonia, Babinski sign, Chorea, Bradykinesia, Seizure, Atypical abs... |
ORPHA:225147 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Photophobia, Falls, Bradykinesia, Tremor,... |
ORPHA:240071 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... |
OMIM:153700 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Dysphagia, High palate, Peripheral axonal neuropathy, Absent brainstem auditory responses, Facial... |
OMIM:617519 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Retinal flecks, Rod-cone dystrophy, Seizure, Peripheral visual field loss, Gait disturbance, Chor... |
ORPHA:157850 |
Xylosidase Deficiency |
|
Seizure, Blindness, Choreoathetosis |
OMIM:278900 |
Huntington Disease-Like 2 |
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Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
Retinitis Pigmentosa 80 |
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Progressive visual loss, Macular atrophy, Blindness |
OMIM:617781 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrh... |
ORPHA:79301 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Weight loss, Splenomegaly, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Retinitis Pigmentosa 29 |
|
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Retinitis Pigmentosa Inversa With Deafness |
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Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy |
OMIM:268010 |
Hsd10 Disease, Infantile Type |
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Dystonia, Dysphagia, Optic atrophy, Retinal degeneration, Poor coordination, Gastrointestinal dys... |
ORPHA:391428 |
Infantile Dystonia-Parkinsonism |
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Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... |
ORPHA:238455 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
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Dystonia, Limb hypertonia, Rigidity, Small for gestational age, Cerebral palsy, Bradykinesia, Tre... |
ORPHA:70594 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
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Macular dystrophy, Reduced visual acuity, Blindness |
OMIM:601553 |
Retinitis Pigmentosa 89 |
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Esophageal varix, Hepatic fibrosis, Micronodular cirrhosis, Rod-cone dystrophy, Constriction of p... |
OMIM:618955 |
Leukoencephalopathy With Vanishing White Matter |
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Gait disturbance, Optic atrophy, Gliosis, Seizure, Blindness, Spasticity, Premature ovarian insuf... |
OMIM:603896 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Cerebral degeneration, Global brain atrophy, Abnormal pyramidal sign, Gait disturbance, Eyelid ap... |
OMIM:234200 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
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Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Seizure, H... |
OMIM:618877 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Tremor, Brain atrophy, Parkin... |
ORPHA:306669 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Microcytic anemia, Axonal degeneration |
OMIM:618811 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Impaired proprioception, Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory n... |
OMIM:609033 |
Parkinson Disease 22, Autosomal Dominant |
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Gait disturbance, Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
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Optic disc pallor, Myoclonic seizure, Central scotoma, Reduced visual acuity, Ataxia, Color visio... |
OMIM:616732 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Neuroferritinopathy |
|
Involuntary movements, Dystonia, Dysphagia, Arm dystonia, Leg dystonia, Babinski sign, Writer's c... |
ORPHA:157846 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Irregular myelin loops, Abnormal auditory evoked poten... |
OMIM:601382 |
Parkinsonism-Dystonia 1, Infantile-Onset |
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Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... |
OMIM:617241 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypointensity of cerebral white matter on MRI, Gastrointestinal dysmotility, Weight los... |
OMIM:603041 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration, Decreased nerve conduction velocity, Abnormal cerebral white matter morphology |
OMIM:618138 |
Childhood-Onset Nemaline Myopathy |
|
Clumsiness, High palate, Facial diplegia, Slender build, Bradykinesia, Waddling gait, Neuromuscul... |
ORPHA:171439 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Peripheral demyelinati... |
OMIM:604168 |
Spinocerebellar Ataxia 48 |
|
Dysphagia, Cerebellar atrophy, Cachexia |
OMIM:618093 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Neutropenia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Seizu... |
OMIM:598500 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix, Prolonged prothrombin time, Splenomegaly, Portal hypertension, Jaundice, Gait d... |
ORPHA:309854 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... |
OMIM:614500 |
Retinal Capillary Malformation |
|
Myopia, Central fundal arteriolar microaneurysms, Subretinal exudate, Retinal capillary hemangiom... |
ORPHA:71213 |
Leber Congenital Amaurosis 12 |
|
Abnormality of macular pigmentation, Congenital blindness |
OMIM:610612 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Reduced visual acuity, Blindness, Fundus atrophy, Pigmentary retinopathy, Photophob... |
OMIM:204000 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Night Blindness, Congenital Stationary, Type 1G |
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Optic disc pallor, Blindness, Congenital stationary night blindness |
OMIM:616389 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Reduced visual acuity, Blindness, Attenuation of retinal bloo... |
OMIM:604393 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Ankle clon... |
ORPHA:363654 |
Leber Congenital Amaurosis 2 |
|
Reduced visual acuity, Blindness, Fundus atrophy, Pigmentary retinopathy, Photophobia, Eye poking |
OMIM:204100 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:605909 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
Microphthalmia, Isolated 5 |
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Foveoschisis, Hypermetropia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
Usher Syndrome, Type Iid |
|
Blindness, Rod-cone dystrophy |
OMIM:611383 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
Renpenning Syndrome |
|
High, narrow palate, Round ear, Cleft palate, Cachexia, Macrotia, Anal atresia, Sensorineural hea... |
ORPHA:3242 |
Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... |
OMIM:608850 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Cronkhite-Canada Syndrome |
|
Cachexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption, Spl... |
ORPHA:2930 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Amblyopia, Choroidal neovascularization, Retinal pigment... |
ORPHA:97341 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Cerebellar atrophy, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tre... |
OMIM:300623 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Hypo... |
OMIM:300400 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... |
OMIM:304020 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Babinski sign, Optic atrophy, Reduced visual acuity, Bilateral tonic-clonic seizure with generali... |
OMIM:618770 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, An... |
OMIM:603554 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Morm Syndrome |
|
Retinal dystrophy, Truncal obesity, Hyperactivity, Progressive night blindness, Visual impairment... |
ORPHA:75858 |
Macular Dystrophy, Patterned, 1 |
|
Pattern dystrophy of the retina, Metamorphopsia, Choroidal neovascularization, Macular dystrophy,... |
OMIM:169150 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Reduced visual acuity, Falls, Rod-cone dystrophy, Congenita... |
OMIM:613341 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Cachexia, Microcephaly, Hearing impairment |
OMIM:610965 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Babinski sign, Clonus, Optic atrophy, Steppage gait, Central scotoma, Reduced visual acuity, Visu... |
OMIM:615035 |
Gm1 Gangliosidosis |
|
Retinopathy of prematurity, Patent ductus arteriosus, Splenomegaly, Seizure, Hepatosplenomegaly, ... |
ORPHA:354 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Cerebral calcifi... |
ORPHA:1933 |
Postencephalitic Parkinsonism |
|
Involuntary movements, Babinski sign, Dysphagia, Tremor by anatomical site, Rigidity, Paresthesia... |
ORPHA:97349 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Babinski sign, Optic atrophy, Cleft palate, Upper limb spasticity, Reduced visual acuity, Bifid u... |
OMIM:618768 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... |
OMIM:608720 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:613643 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... |
ORPHA:71277 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Reduced visual acuity, Visual impairment, Truncal obesity, Childhood-onset tru... |
OMIM:610156 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... |
ORPHA:466722 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Seizure, Hypertonia, Blindness, Gastroesophag... |
ORPHA:141 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness |
OMIM:136900 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Rigidity, Polycythemia, Steppage gait, Abnormality of extrapyramidal moto... |
OMIM:613280 |
Flynn-Aird Syndrome |
|
Cachexia, Progressive sensorineural hearing impairment, EEG abnormality, Cerebral calcification, ... |
ORPHA:2047 |
Bardet-Biedl Syndrome 21 |
|
Myopia, Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone d... |
OMIM:617406 |
Spinocerebellar Ataxia Type 8 |
|
Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Cere... |
ORPHA:98760 |
Ménétrier Disease |
|
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... |
ORPHA:2494 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... |
OMIM:617384 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Alg6-Cdg |
|
Retinal degeneration, Macroglossia, Failure to thrive, Rod-cone dystrophy, Abnormality of the liv... |
ORPHA:79320 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Reduced visual acuity, Sp... |
OMIM:270500 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Dystonia, Dysphagia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykines... |
ORPHA:171695 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dysphagia, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Frequent fal... |
ORPHA:411602 |
Fleck Retina, Familial Benign |
|
Blindness, Retinal flecks |
OMIM:228980 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive |
|
Central scotoma, Reduced visual acuity, Retinal nerve fiber edema, Retinal telangiectasia, Centra... |
OMIM:619382 |
Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... |
ORPHA:102 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Failure to thrive,... |
OMIM:612541 |
Early-Onset X-Linked Optic Atrophy |
|
Babinski sign, Optic atrophy, Optic disc pallor, Choreoathetosis, Progressive visual loss, Centra... |
ORPHA:98890 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... |
ORPHA:1876 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Type II diabetes mellitus, Hypogonadism, Abno... |
ORPHA:791 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Achromatopsia |
|
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... |
ORPHA:49382 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 |
|
Blindness, Congenital stationary night blindness |
OMIM:610444 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Central scotoma, Retinal pigment epithelial mottling, Reduced v... |
ORPHA:827 |
Night Blindness, Congenital Stationary, Type 1D |
|
Blindness, Congenital stationary night blindness |
OMIM:613830 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Ch... |
OMIM:607921 |
Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, High palate, Difficulty walking, Bradykinesia |
ORPHA:171442 |
Cohen Syndrome |
|
High, narrow palate, Optic atrophy, Chorioretinal dystrophy, Neutropenia, Myopia, Leukopenia, Sma... |
OMIM:216550 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Rett Syndrome |
|
Gait disturbance, Dystonia, Failure to thrive, Limb apraxia, Bradykinesia, Stereotypy, Seizure, I... |
ORPHA:778 |
Microphthalmia-Brain Atrophy Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Tongue thrusting, Multifocal seizures, Cerebellar v... |
ORPHA:77299 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Optic atrophy, Impaired temperature sensation, Paresthesia, Frequ... |
ORPHA:99947 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Global brain atrophy, Seizure, Gait disturbance, Dysmetria, Reduced visual acuity, Ankle clonus, ... |
ORPHA:139396 |
Tay-Sachs Disease |
|
Clumsiness, Global brain atrophy, Focal impaired awareness seizure, Fasciculations, Seizure, Inco... |
ORPHA:845 |
Infantile Refsum Disease |
|
Hepatomegaly, Optic atrophy, Failure to thrive, Facial palsy, Rod-cone dystrophy, Seizure, Ataxia... |
ORPHA:772 |
Isolated Succinate-Coq Reductase Deficiency |
|
Babinski sign, Frequent falls, Weight loss, Reduced visual acuity, Loss of ability to walk, Spast... |
ORPHA:3208 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Aprax... |
OMIM:137440 |
Nephronophthisis 15 |
|
Seizure, Obesity, Blindness, Retinal degeneration |
OMIM:614845 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Goiter, Seizure, Diabetes mellitus, Lethargy, Gait disturbance, Bradykinesia, Hypertonia, Hyperth... |
ORPHA:254892 |
Huntington Disease-Like 2 |
|
Abnormal corpus striatum morphology, Caudate atrophy, Weight loss, Abnormal cerebral morphology, ... |
ORPHA:98934 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Macular Dystrophy, Vitelliform, 1 |
|
Macular dystrophy, Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, ... |
OMIM:153840 |
Infantile Neuroaxonal Dystrophy |
|
Progressive spasticity, Gait disturbance, Dystonia, Abnormality of peripheral nerve conduction, O... |
ORPHA:35069 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Spastic paraplegia, Blindness |
OMIM:302700 |
Progressive Supranuclear Palsy |
|
Dystonia, Dysphagia, Rigidity, Neuronal loss in central nervous system, Gliosis, Falls, Bradykine... |
ORPHA:683 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Global brain atrophy, Posteriorly rotated ears, Cerebral ... |
OMIM:616801 |
Congenital Stationary Night Blindness |
|
Myopia, Abnormality of retinal pigmentation, Hypermetropia, Reduced visual acuity, Color vision d... |
ORPHA:215 |
Spinocerebellar Ataxia Type 7 |
|
Abnormal fundus morphology, Babinski sign, Dysphagia, Cerebellar atrophy, Dysmetria, Failure to t... |
ORPHA:94147 |
Abetalipoproteinemia |
|
Impaired proprioception, Progressive visual loss, Prolonged prothrombin time, Rod-cone dystrophy,... |
ORPHA:14 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Rigidity |
ORPHA:306686 |
Retinoschisis Of Fovea |
|
Foveoschisis, Hypermetropia, Macular dystrophy, Mildly reduced visual acuity, Rod-cone dystrophy,... |
OMIM:268080 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... |
OMIM:608161 |
Congenital Disorder Of Glycosylation, Type In |
|
Hepatomegaly, Failure to thrive, Myoclonus, Reduced visual acuity, Seizure, Ataxia, Spasticity |
OMIM:612015 |
Mcdonough Syndrome |
|
Cachexia, Macrotia, Low-set, posteriorly rotated ears, Cryptorchidism, Protruding ear |
ORPHA:2471 |
Retinitis Pigmentosa 4 |
|
Visual field defect, Rod-cone dystrophy, Blindness, Pigmentary retinopathy, Nyctalopia |
OMIM:613731 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... |
ORPHA:98933 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Failure to thrive in infancy, Cachexia, Hearing impairment, Cerebral cortical atro... |
ORPHA:702 |
Parkinson Disease 1, Autosomal Dominant |
|
Dystonia, Gait disturbance, Dysphagia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Gliosis... |
OMIM:168601 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration |
OMIM:616155 |
Ataxia-Telangiectasia |
|
Dystonia, Choreoathetosis, Leukemia, Hypoplasia of the thymus, Myoclonus, Tremor, Ataxia, Seizure... |
OMIM:208900 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Myopia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic s... |
OMIM:617810 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... |
OMIM:601718 |
Chromosome Xp11.3 Deletion Syndrome |
|
Nyctalopia, Blindness, Visual impairment, Rod-cone dystrophy |
OMIM:300578 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Bilateral tonic-clonic seizure, Cerebellar gliosis, Infantile spasms, Small for gestati... |
ORPHA:79243 |
3-Methylglutaconic Aciduria, Type Iii |
|
Babinski sign, Optic atrophy, Chorea, Abnormality of extrapyramidal motor function, Reduced visua... |
OMIM:258501 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Splenom... |
ORPHA:100025 |
Cone-Rod Dystrophy 12 |
|
Central scotoma, Bull's eye maculopathy, Reduced visual acuity, Color vision defect, Cone/cone-ro... |
OMIM:612657 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... |
OMIM:617123 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Gait disturbance, Gastrointestinal dysmotility, Bone spicule pigmentatio... |
ORPHA:88628 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Focal impaired awareness seizure, Stereotypy, Seizure, Cerebral atrophy, Oral-pharyngeal dysphagi... |
ORPHA:178469 |
Retinitis Pigmentosa 35 |
|
Blindness, Cone/cone-rod dystrophy, Nyctalopia, Rod-cone dystrophy |
OMIM:610282 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... |
OMIM:613862 |
Ring Chromosome 10 Syndrome |
|
Large earlobe, Cachexia, Aganglionic megacolon, Abnormal antihelix morphology, Low-set ears |
ORPHA:1438 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Progressive visual loss, Chorioretinal degeneration, Seizure, Constriction of peripheral ... |
ORPHA:414 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired proprioception, Optic atrophy, Diabetes insipidus, Acanthocytosis, Dysmetria, Spastic ga... |
ORPHA:96180 |
Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Impaired distal tactile sensation, Impaired pain sensation, Diffuse cerebellar atr... |
ORPHA:101111 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Cleft palate, Failure to thrive, Hypoplasia of the thymus, Intrahepatic biliary dys... |
OMIM:214110 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Reduced visual acuity, Macular degeneration |
OMIM:616118 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Gastrointestinal dysmotility, Global brain atrophy, Diffuse cerebellar atrophy,... |
ORPHA:478029 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... |
ORPHA:99750 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... |
OMIM:619007 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Reduced visual acuity, Visual field defect, Photopsia, Cystoid macular edema, ... |
OMIM:617433 |
Sarcosinemia |
|
Optic atrophy, Bilateral tonic-clonic seizure, Ataxia, Congenital blindness, Tetraparesis |
ORPHA:3129 |
Sandhoff Disease |
|
Hepatomegaly, Impaired temperature sensation, Cherry red spot of the macula, Bilateral tonic-clon... |
OMIM:268800 |
Parkinson Disease, Late-Onset |
|
Dystonia, Dysphagia, Rigidity, Neuronal loss in central nervous system, Bradykinesia, Tremor, Res... |
OMIM:168600 |
Adult-Onset Dystonia-Parkinsonism |
|
Clumsiness, Dystonia, Dysphagia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid a... |
ORPHA:199351 |
Retinal Cone Dystrophy 3A |
|
Photophobia, Reduced visual acuity, Cone dystrophy, Dyschromatopsia, Cone/cone-rod dystrophy, Nyc... |
OMIM:610024 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... |
OMIM:611131 |
Ataxia-Pancytopenia Syndrome |
|
Gait disturbance, Hypoplastic anemia, Cerebellar atrophy, Abnormal platelet function, Acute myelo... |
ORPHA:2585 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic atrophy, Optic disc pallor, Reduced visual acuity, Visual field defect, Cerebral visual imp... |
OMIM:615722 |
Cone-Rod Dystrophy 2 |
|
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... |
OMIM:120970 |
Leukodystrophy, Hypomyelinating, 15 |
|
Athetosis, Dystonia, Dysphagia, Optic atrophy, Cerebellar atrophy, Hypermetropia, Progressive vis... |
OMIM:617951 |
Stargardt Disease 4 |
|
Reduced visual acuity, Retinal flecks, Macular degeneration |
OMIM:603786 |
Optic Atrophy 1 |
|
Optic atrophy, Central scotoma, Reduced visual acuity, Centrocecal scotoma, Ataxia, Red-green dys... |
OMIM:165500 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Nyctalopia, Fundus atrophy, Attenuat... |
OMIM:613428 |
Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Neurodegeneration, Primary adrenal insufficiency, Parapar... |
OMIM:300100 |
Optic Pathway Glioma |
|
Optic atrophy, Visual field defect, Reduced visual acuity, Seizure, Papilledema, Visual loss, Bli... |
ORPHA:2086 |
Cone-Rod Dystrophy 15 |
|
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... |
OMIM:613660 |
Ataxia With Vitamin E Deficiency |
|
Gait disturbance, Dystonia, Abnormality of retinal pigmentation, Dysmetria, Visual impairment, Tr... |
ORPHA:96 |
Temporal Arteritis |
|
Retinal arteritis, Blindness |
OMIM:187360 |
Supranuclear Palsy, Progressive, 1 |
|
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Neuronal loss in central ner... |
OMIM:601104 |
Wolman Disease |
|
Cachexia, Esophageal varix, Anemia, Bone-marrow foam cells, Splenomegaly, Steatorrhea |
ORPHA:75233 |
Spinocerebellar Ataxia 25 |
|
Babinski sign, Cerebellar atrophy, Impaired pain sensation, Reduced visual acuity, Ataxia, Abolis... |
OMIM:608703 |
Ataxia-Telangiectasia |
|
Gait disturbance, Type II diabetes mellitus, Failure to thrive, Polycystic ovaries, Tremor, Ataxi... |
ORPHA:100 |
Retinitis Pigmentosa 20 |
|
Visual impairment, Rod-cone dystrophy, Attenuation of retinal blood vessels, Nyctalopia, Severely... |
OMIM:613794 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Hemiparesis, Autoimmune thrombocytopenia, Lymphopenia, ... |
ORPHA:444463 |
Retinitis Pigmentosa 47 |
|
Rod-cone dystrophy, Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment |
OMIM:613758 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Color vision defect, Nyctalopia, Visual impairment |
OMIM:607476 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Optic atrophy, Failure to thrive, Anemia, Facial palsy, Splenomegaly, Seizure, Faci... |
OMIM:259700 |
Primary Progressive Freezing Gait |
|
Postural tremor, Babinski sign, Clonus, Dysphagia, Gait imbalance, Rigidity, Frequent falls, Shuf... |
ORPHA:75567 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, Intestinal atresia, Hemato... |
OMIM:243150 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:601455 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... |
OMIM:613194 |
Choroideremia |
|
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Abnormal... |
ORPHA:180 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia, Blindness |
OMIM:610623 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, N... |
OMIM:616394 |
Bilateral Generalized Polymicrogyria |
|
Stereotypy, Focal-onset seizure, Oral-pharyngeal dysphagia, Oculogyric crisis, Generalized tonic ... |
ORPHA:208447 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis |
OMIM:619164 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... |
ORPHA:98808 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Cachexia, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Anemia, Ne... |
ORPHA:83469 |
Supranuclear Palsy, Progressive, 2 |
|
Postural tremor, Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Neuronal lo... |
OMIM:609454 |
Infantile Krabbe Disease |
|
Optic atrophy, Cachexia, Hypointensity of cerebral white matter on MRI, Failure to thrive, Decrea... |
ORPHA:206436 |
Choreoacanthocytosis |
|
Oromandibular dystonia, Phonic tics, Splenomegaly, Seizure, Frontal cortical atrophy, Abnormal er... |
ORPHA:2388 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysp... |
ORPHA:100083 |
Retinitis Pigmentosa 7 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peripheral visual field... |
OMIM:608133 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Attenuation of re... |
OMIM:614180 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... |
OMIM:102730 |
Retinitis Pigmentosa 18 |
|
Rod-cone dystrophy, Scotoma, Retinal arteriolar constriction, Progressive visual field defects, N... |
OMIM:601414 |
Reticular Dysgenesis |
|
Leukopenia, Chronic otitis media, Failure to thrive, Weight loss, Anemia, Malabsorption, Hearing ... |
ORPHA:33355 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Dysphagia, Impaired distal proprioception, Rigidity, Facial palsy, Bradykines... |
OMIM:157640 |
Retinitis Pigmentosa 13 |
|
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... |
OMIM:600059 |
Choroideremia |
|
Choroideremia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral vi... |
OMIM:303100 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... |
OMIM:300048 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Morning glory anomaly, Moderately reduced visual acuity, Atrophy/Degeneration affecting the brain... |
ORPHA:98673 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Clonus, Tetraplegia, Seizure, Blindness, Spasticity, Gastroesophageal reflux, Cerebral cortical a... |
ORPHA:3137 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Dystonia, Optic atrophy, Anemia, Bone marrow hypocellularity, Abnormal pyramidal sign, Abnormalit... |
OMIM:612199 |
Manganese Poisoning |
|
Postural tremor, Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Bradyk... |
ORPHA:306682 |
Cone-Rod Dystrophy 21 |
|
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia |
OMIM:616502 |
Tetrasomy 12P |
|
Cachexia, Abnormal soft palate morphology, Hypohidrosis, Anal atresia |
ORPHA:884 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dysphagia, Cerebellar atrophy, Axonal loss, Neurodegeneration, Peripheral demyelination, Cerebral... |
OMIM:617672 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Fleck Retina Of Kandori |
|
Nyctalopia, Blindness, Retinal flecks |
OMIM:228990 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Sensorineural hearing impairment, Steatorrhea |
ORPHA:3217 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Myopia, Failure to thrive, Cholestatic liver d... |
ORPHA:5 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Dysphagia, Esophageal neoplasm, Abnormal large intestine morpholog... |
ORPHA:2198 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Cryptorchidism, Nyctalopia |
OMIM:615982 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy, Blindness |
ORPHA:2787 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Color vision defect, Photophobia, Ny... |
OMIM:600852 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Gait disturbance, Dysphagia, Rigidity, Dysmetria, Diffuse cerebellar atrophy, Bradykinesia, Inten... |
ORPHA:93256 |
Osteoporosis-Pseudoglioma Syndrome |
|
Severely reduced visual acuity, Exudative vitreoretinopathy, Moderately reduced visual acuity, Lo... |
ORPHA:2788 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Axonal degeneration, Decreased number of larg... |
OMIM:208920 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... |
OMIM:618144 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Usher Syndrome Type 1 |
|
High hypermetropia, Subcortical cerebral atrophy, Scotoma, Visual loss, Ataxia, Hemianopia, Nycta... |
ORPHA:231169 |
Idiopathic Achalasia |
|
Weight loss, Dysphagia, Gastroesophageal reflux |
ORPHA:930 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Visual impairment, Color vision defect, Photophobia, Nyctalopia |
ORPHA:1872 |
Retinitis Pigmentosa 63 |
|
Blurred vision, Optic disc pallor, Nyctalopia, Rod-cone dystrophy |
OMIM:614494 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Glossitis, Hamartomatous... |
OMIM:175500 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Sp... |
OMIM:614487 |
Achromatopsia 7 |
|
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... |
OMIM:616517 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality of the gastrointestin... |
ORPHA:388 |
Progressive Myoclonic Epilepsy Type 3 |
|
Optic atrophy, Photosensitive myoclonic seizure, Cerebellar atrophy, Limb myoclonus, Febrile seiz... |
ORPHA:263516 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Clumsiness, Dysphagia, Optic disc pallor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Fre... |
ORPHA:1947 |
Cone-Rod Dystrophy 5 |
|
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... |
OMIM:600977 |
Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral vi... |
OMIM:303110 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Failure to thrive, Myoclonus, Ataxia, Blindness, Diabetes mellitus, Type I diabetes... |
OMIM:560000 |
Retinitis Pigmentosa 68 |
|
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Usher Syndrome, Type Iiia |
|
Reduced visual acuity, Visual field defect, Nyctalopia, Rod-cone dystrophy |
OMIM:276902 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Central scotoma, Reduced vi... |
OMIM:125250 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Photophobia, Nyctalopia |
OMIM:616079 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Myopia, Optic disc pallor, Central scotoma, Reduced visual acuity, Retinal detachment, Abnormalit... |
OMIM:300476 |
Cone-Rod Dystrophy 13 |
|
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... |
OMIM:608194 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cons... |
OMIM:180104 |
Rett Syndrome |
|
Cachexia, EEG abnormality, Secondary microcephaly, Gastroesophageal reflux, Cerebral cortical atr... |
OMIM:312750 |
Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, F... |
OMIM:617514 |
Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Retrobulbar optic neuritis, Anemia, Pseudopapilledem... |
ORPHA:1451 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Visual field defect, Nyctalopia, Rod-cone dystrophy |
OMIM:614181 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Optic atrophy, Dysphagia, Cerebellar atrophy, Progressive extrapyramidal movement disorder, Bilat... |
ORPHA:329308 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... |
ORPHA:95427 |
Primary Angiitis Of The Central Nervous System |
|
Paralysis, Abnormal visual field test, Reduced visual acuity, Hemiparesis, Paraparesis, Ataxia, S... |
ORPHA:140989 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... |
OMIM:136550 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Reduced visual acuity, Seizure, Ataxia, Slurred speech, Hemiplegia, Photophob... |
ORPHA:209967 |
Waisman Syndrome |
|
Shuffling gait, Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Parkinsonism |
OMIM:311510 |
Majeed Syndrome |
|
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Weight loss, Congenital... |
ORPHA:77297 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Babinski sign, Infantile spasms, Choreoathetosis, Reduced visual acuity, Upp... |
ORPHA:2524 |
Retinitis Pigmentosa 2 |
|
Myopia, Rod-cone dystrophy, Chorioretinal degeneration, Constriction of peripheral visual field, ... |
OMIM:312600 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Toni... |
OMIM:618917 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Abnormal fundus morphology, Abnormality of the optic nerve, Rod-cone dystrophy, Attenuation of re... |
ORPHA:436274 |
Perry Syndrome |
|
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Pa... |
OMIM:168605 |
Retinal Aplasia |
|
Congenital blindness |
OMIM:179900 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Peripheral ret... |
OMIM:601813 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Chorea, Lymphopenia, Ileal ulcer, Thrombocytopenia, Hemolytic anemia |
OMIM:616744 |
Retinal Cone Dystrophy 3B |
|
Myopia, Macular atrophy, Scotoma, Photophobia, Cone/cone-rod dystrophy, Nyctalopia |
OMIM:610356 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Retinal dystrophy, Decreased hemoglobin concentration, Tremor, Ataxia, Blindness, Reticulocytosis... |
ORPHA:713 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment |
OMIM:614186 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Progressive visual loss, Splenomegaly, Abnormality of vision... |
ORPHA:773 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Dysphagia, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global... |
ORPHA:52368 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy |
OMIM:615922 |
Retinitis Pigmentosa 85 |
|
Reduced visual acuity, Progressive night blindness, Rod-cone dystrophy |
OMIM:618345 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Villous atrophy, Lymphopenia, Diabetes mellitus, Hypothyroidism, D... |
OMIM:614162 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Cleft palate, Microglossia |
ORPHA:141152 |
Jalili Syndrome |
|
Monochromacy, Optic disc pallor, Photophobia, Cone/cone-rod dystrophy, Nyctalopia |
OMIM:217080 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Macular degene... |
OMIM:618826 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Elliptocytosis 2 |
|
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... |
OMIM:617460 |
Cog8-Cdg |
|
Cerebellar atrophy, Failure to thrive, Atrophy/Degeneration affecting the brainstem, Prolonged pr... |
ORPHA:95428 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Optic atrophy, Myopia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Visual impa... |
ORPHA:529665 |
Blue Cone Monochromacy |
|
Myopia, Blue cone monochromacy, Reduced visual acuity, Abnormality of macular pigmentation, Photo... |
OMIM:303700 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Cerebellar atrophy, Reduced visual acuity, Splenomegaly |
OMIM:618541 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... |
ORPHA:364055 |
Cavitary Optic Disc Anomalies |
|
Peripapillary atrophy, Reduced visual acuity, Nyctalopia, Visual field defect |
OMIM:611543 |
Chediak-Higashi Syndrome |
|
Neutropenia, Ocular albinism, Lymphadenopathy, Abnormal dense granules, Giant neutrophil granules... |
OMIM:214500 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... |
OMIM:267760 |
Gm2-Gangliosidosis, Ab Variant |
|
Paralysis, Dystonia, Chorea, Neurodegeneration, Exaggerated startle response, Spastic tetraparesi... |
OMIM:272750 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Retinal detachment, Congenital blindness,... |
ORPHA:436182 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Optic Atrophy 9 |
|
Optic atrophy, Reduced visual acuity, Paracentral scotoma, Red-green dyschromatopsia, Visual impa... |
OMIM:616289 |
Retinal Dystrophy And Obesity |
|
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... |
OMIM:616188 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Retinal dysplasia, Seizure, Retinal detachment, Blindness |
OMIM:310600 |
Syndromic Diarrhea |
|
Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... |
ORPHA:84064 |
Acitretin/Etretinate Embryopathy |
|
High palate, Hypoplasia of the thymus, Aplasia/Hypoplasia of the optic nerve, Median cleft palate... |
ORPHA:40366 |
Cone Dystrophy 3 |
|
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... |
OMIM:602093 |
Cone Dystrophy 4 |
|
Photophobia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment |
OMIM:613093 |
Isaac Syndrome |
|
Weight loss, EEG abnormality, Hyperhidrosis |
ORPHA:84142 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Cranial nerve compression, Anemia, Hepatosplenomegaly, Facial paralysis, Blindness... |
OMIM:259710 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Global brain atrophy, Axonal degeneration, M... |
OMIM:616811 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Sp... |
ORPHA:313772 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Peripheral retinal avascularization, Retinal ... |
OMIM:133780 |
Tritanopia |
|
Reduced visual acuity, Abnormal retinal morphology, Color vision test abnormality, Photophobia, T... |
ORPHA:88629 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Central scotoma, Seizure, Ataxia, Hypertoni... |
ORPHA:543470 |