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 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Vacuolated lymphocytes, Retinal degeneration, Macular degeneration, Cerebral ... |
OMIM:204200 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Gliosis, Dysmetr... |
OMIM:607136 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Blindness, Bradykinesia, Dysmetria, Progressive visual loss, Truncal ataxia, Hemiparesis,... |
OMIM:601338 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Parkinsonism, Corpus ca... |
OMIM:221820 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... |
OMIM:205950 |
Sandhoff Disease |
|
Failure to thrive, Ataxia, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Seizure, Bl... |
ORPHA:796 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... |
OMIM:300423 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... |
OMIM:617435 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Generalized myoclonic seizure, Retinopathy, Pigmentary retinopathy, Neu... |
OMIM:610951 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... |
OMIM:261640 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Action tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicat... |
ORPHA:254886 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Atrophy/Degeneration affecting the brains... |
OMIM:619862 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... |
ORPHA:36387 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Seizure, Corticospi... |
OMIM:551500 |
Huntington Disease |
|
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Weight loss, Chokin... |
ORPHA:399 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Brain atrophy, Chorea, Tremor, Generalized-onset seizure, Spasticity, Unsteady gait, Prog... |
ORPHA:79263 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Gait ataxia, Cerebellar atrophy, Seizure... |
ORPHA:71517 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Visual loss, Athetosis, Optic atrophy, Leber optic atrophy, Spasticity, Dysphagia, ... |
OMIM:500001 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... |
ORPHA:75377 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Retinopathy, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Frequent falls,... |
ORPHA:216873 |
Severe Canavan Disease |
|
Inability to walk, Gastroesophageal reflux, Decerebrate rigidity, Babinski sign, Optic atrophy, B... |
ORPHA:314911 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Retinal degeneration, Macular degeneration, Cerebral atrophy, Myoclonus, Optic atrophy, S... |
OMIM:256730 |
Dravet Syndrome |
|
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... |
ORPHA:33069 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy, Spasticity, Seizure, Blindness, Severely reduced visual acuity |
OMIM:309555 |
Huntington Disease |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... |
OMIM:143100 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cerebral atrophy, Intention tr... |
ORPHA:98762 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Dysphagia, Postu... |
ORPHA:210571 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Malabsorption, Cachexia, Weight loss, Intestinal pseudo-obstruction, Hearing impai... |
OMIM:613662 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... |
ORPHA:41751 |
Ravine Syndrome |
|
Failure to thrive, Decreased body weight, Atrophy/Degeneration affecting the brainstem, Abnormal ... |
ORPHA:99852 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormal autonomic nervous system physiology... |
OMIM:300894 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dysphagia |
OMIM:618317 |
Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Dysphagia |
ORPHA:228169 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Rod-c... |
OMIM:183090 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Chore... |
ORPHA:282166 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ab... |
OMIM:617225 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Decreased nerve conduction v... |
OMIM:603516 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cerebral cortical atrophy, Gli... |
ORPHA:157941 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Bradykinesia, Cleft palate, Macrovesicular hepatic steatosis, Ch... |
OMIM:614924 |
Diencephalic Syndrome |
|
Decreased body weight, Cachexia, Optic atrophy, Macrotia, Hyperhidrosis |
ORPHA:1672 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Narp Syndrome |
|
Ataxia, Cerebral cortical atrophy, Rod-cone dystrophy, Constriction of peripheral visual field, R... |
ORPHA:644 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... |
ORPHA:98755 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... |
OMIM:605670 |
Bothnia Retinal Dystrophy |
|
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... |
ORPHA:85128 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormal autonomic nervous system physiology... |
ORPHA:329284 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... |
ORPHA:306692 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Riboflavin Transporter Deficiency |
|
Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Cachexia, Progressive he... |
ORPHA:97229 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... |
OMIM:617836 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness, Spasticity, Seizure |
ORPHA:85336 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... |
ORPHA:101110 |
Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiol... |
ORPHA:97355 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigr... |
OMIM:600116 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dysphagia |
OMIM:128235 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Machado-Joseph Disease |
|
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Abnormal autonomic ner... |
OMIM:109150 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity, Seizure |
OMIM:618824 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Chor... |
ORPHA:13 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
High palate, Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegi... |
OMIM:300055 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Retinal degenerat... |
ORPHA:79264 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Sensorineural hearing impairment, Decreased number of large peripheral myelinated nerve fibers, A... |
ORPHA:298 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal de... |
OMIM:614436 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Bradykinesia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Babinski sign, Rigidity, ... |
ORPHA:100984 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Sensorineural hearing impairment, Axonal degeneration, Onion bulb formation, Decreased motor nerv... |
OMIM:302800 |
Macular Dystrophy With Central Cone Involvement |
|
Reduced visual acuity, Optic disc pallor, Central scotoma, Visual impairment, Macular dystrophy, ... |
OMIM:616170 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... |
ORPHA:391411 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebral atrophy, Spasticity, Cerebellar atrophy, Seizure, Blindness |
OMIM:617899 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Optic atrophy, Titubation, Optic d... |
ORPHA:98768 |
Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Stargardt Disease 3 |
|
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment |
OMIM:600110 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Tremor, Difficulty walking, Lower limb spasticity, Visual impairment, Slurred... |
ORPHA:206443 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Bradykinesia, Limb ataxia, Diplopia, Intention tremor, Babinski sign, Parkinsonism, Truncal ataxi... |
OMIM:258450 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... |
ORPHA:98856 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... |
OMIM:600138 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Cleft palate, Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Ankle clonus, Reduce... |
ORPHA:506353 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Rigidity, Parkinsonism, Gait ataxia, Postural tre... |
ORPHA:101150 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism, Tr... |
ORPHA:521406 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the striatum |
OMIM:609161 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminergic medication, Bradyki... |
ORPHA:240085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Abnormal pyramidal sign, Optic atrophy, Spastic tetraparesis, Spastic gait |
OMIM:619052 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:1144 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Megaloblastic anemia, Failure to thrive, Cerebral atrophy, Gait disturbance, Seizure, Blindness, ... |
OMIM:236270 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Failure to thrive, Cerebral atrophy, Poor coordination, Gait disturbance, S... |
OMIM:250940 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... |
OMIM:303100 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... |
ORPHA:90050 |
Macular Dystrophy, Vitelliform, 5 |
|
Reduced visual acuity, Vitelliform-like macular lesions, Moderately reduced visual acuity, Centra... |
OMIM:616152 |
Leber Congenital Amaurosis 2 |
|
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... |
OMIM:204100 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... |
OMIM:602433 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... |
OMIM:615157 |
Amyotrophy, Hereditary Neuralgic |
|
Cleft palate, Axonal degeneration, Peripheral axonal degeneration, Brachial plexus neuropathy, Lo... |
OMIM:162100 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Rod-cone dystrophy, Tip-toe gait, Pigmentary retinopathy, Freque... |
ORPHA:216866 |
Macular Dystrophy, Patterned, 3 |
|
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Blindness, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoath... |
ORPHA:726 |
Retinitis Pigmentosa 27 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal... |
OMIM:613750 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Parkinsonism, Falls, Abnormal neuron morphology, Diffuse cerebral atrophy, Shufflin... |
ORPHA:412066 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... |
OMIM:180210 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi... |
OMIM:619911 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Reduced visual acuity, Abnormal pyramidal sign, Incoordination, Optic atrophy, Tremor, Un... |
OMIM:614947 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Small for gestationa... |
OMIM:604320 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Bradykinesia, Protein-losing enteropathy |
OMIM:619063 |
Migraine, Familial Hemiplegic, 3 |
|
Hemiplegia, Photophobia, Hemiparesis, Seizure, Blindness |
OMIM:609634 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... |
OMIM:608051 |
Krabbe Disease |
|
Hypertonia, Failure to thrive, Decreased nerve conduction velocity, Decerebrate rigidity, Autoimm... |
OMIM:245200 |
Christianson Syndrome |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gastroesophageal reflux, Cach... |
ORPHA:85278 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Dysphagia, Blindness, Chorea, Gait disturbance |
OMIM:607674 |
Laryngotracheoesophageal Cleft Type 4 |
|
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abnormality of the spleen, Abnormal lowe... |
ORPHA:93941 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Gait disturbance, Upper limb spasti... |
OMIM:618418 |
Leber Congenital Amaurosis 1 |
|
Photophobia, Hepatomegaly, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessel... |
OMIM:204000 |
Optic Atrophy 3, Autosomal Dominant |
|
Reduced visual acuity, Optic atrophy, Tremor, Optic disc pallor, Scotoma, Abnormality of extrapyr... |
OMIM:165300 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... |
OMIM:153700 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Intestinal atresia, ... |
OMIM:243150 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Hepatomegaly, Nyctalopia, Splenomegaly, Cirrhosis, Biliary trac... |
ORPHA:79301 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... |
ORPHA:289560 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, Ataxia, Inability to walk, Retinal degeneration, Spasticity, Generalized... |
ORPHA:168491 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Facial diplegia, Low-set ears, High palate, Gastroesophageal reflux, Cachexia, Cerebellar atrophy... |
OMIM:618186 |
Retinitis Pigmentosa 80 |
|
Progressive visual loss, Blindness, Macular atrophy |
OMIM:617781 |
Moynahan Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:2574 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
Leber Congenital Amaurosis 9 |
|
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... |
OMIM:608553 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Intrahepatic bile duct dilatation, Rod-cone dystrophy, Nyctalopia, Constr... |
OMIM:618955 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Gait disturbance, S... |
OMIM:615643 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Retinitis Pigmentosa 29 |
|
Blindness, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612165 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Atypical ... |
ORPHA:225147 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Neuromuscular dysphagia, Progressive cerebellar ataxia, Bradykinesia, Resting t... |
ORPHA:227510 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... |
OMIM:136550 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor |
OMIM:168100 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy |
OMIM:268010 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular dystrophy, Blindness, Reduced visual acuity |
OMIM:601553 |
X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Primary gonadal insufficiency, Optic atrophy, Gait disturbance, Spasticity, Unsteady gai... |
OMIM:603896 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Ring scotoma, Decreased sensory nerve conduction velocity, Rod-cone dys... |
OMIM:609033 |
Dystonia 16 |
|
Bradykinesia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Involuntary m... |
OMIM:612067 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Microcytic anemia, Axonal degeneration |
OMIM:618811 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Spinocerebellar Ataxia 48 |
|
Dysphagia, Cachexia, Cerebellar atrophy |
OMIM:618093 |
Cach Syndrome |
|
Cerebellar vermis atrophy, Pancreatitis, Optic neuritis, Limb ataxia, Dysmetria, Cerebral atrophy... |
ORPHA:135 |
Childhood-Onset Nemaline Myopathy |
|
Slender build, Neuromuscular dysphagia, Facial diplegia, Clumsiness, Bradykinesia, High palate, D... |
ORPHA:171439 |
Cone-Rod Dystrophy 16 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... |
OMIM:614500 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor |
OMIM:616710 |
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Photophobia, Ataxia, Color vision defect, Reduced visual acuity, Myoclonic seizure, Optic disc pa... |
OMIM:616732 |
Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss |
OMIM:606438 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Reduced visual acuity, B... |
OMIM:618770 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conducti... |
OMIM:604168 |
Hsd10 Disease, Infantile Type |
|
Loss of ambulation, Retinal degeneration, Cerebral atrophy, Poor coordination, Rod-cone dystrophy... |
ORPHA:391428 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Abnormal autonomic nervous system physiology, Optic a... |
OMIM:598500 |
Leber Congenital Amaurosis 4 |
|
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... |
OMIM:604393 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Stomach cancer, Splenomegaly, Cachexia, Furrowed tongue, Intestinal polyposis, Col... |
ORPHA:2930 |
Retinal Capillary Malformation |
|
Blindness, Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Reduced visual acuity, ... |
ORPHA:71213 |
Microphthalmia, Isolated 5 |
|
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... |
OMIM:611040 |
Leber Congenital Amaurosis 12 |
|
Abnormality of macular pigmentation, Congenital blindness |
OMIM:610612 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte... |
OMIM:300400 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... |
OMIM:619725 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Abcd Syndrome |
|
Polycythemia, Neonatal death, Large for gestational age, Abnormal auditory evoked potentials, Tot... |
OMIM:600501 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Cerebral atrophy, Myoclonus, Parkinsonism, Truncal a... |
OMIM:618877 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... |
OMIM:610217 |
Dravet Syndrome |
|
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Cerebral atrophy, Focal imp... |
OMIM:607208 |
Usher Syndrome, Type Iid |
|
Blindness, Rod-cone dystrophy |
OMIM:611383 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... |
ORPHA:97341 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Retinal degeneration, Babinski sign, Optic atrophy, Tremor, Spasticity, Abnormal pyramida... |
OMIM:234200 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... |
OMIM:304020 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
Macular Dystrophy, Patterned, 1 |
|
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... |
OMIM:169150 |
Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Chorea, Neurodegenera... |
OMIM:606159 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
Macular Dystrophy, Retinal, 3 |
|
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... |
OMIM:608850 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Photophobia, Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:240071 |
Canavan Disease |
|
Hypertonia, Abnormality of retinal pigmentation, Gastroesophageal reflux, Optic atrophy, Visual i... |
ORPHA:141 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Inability to walk, Lymphopenia, Progressive cerebellar ataxia, Intenti... |
OMIM:208900 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Retinal degeneration, Retinal flecks, Optic atrophy, Tics, Spasticity, Visual impairment, Bull's ... |
ORPHA:157850 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Axonal degeneration, Orthostatic hypotension, Peripheral axonal degeneration, Decreased number of... |
OMIM:608720 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertonia, Action tremor, Hepatomegaly, Micronodular cirrhosis, Spastic paraparesis, Splenomegal... |
ORPHA:309854 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Clumsiness, Inability to walk, Cerebral atrophy, Focal impaired awareness seizure, Genera... |
ORPHA:1947 |
Infantile Dystonia-Parkinsonism |
|
Hypertonia, Bradykinesia, Gastroesophageal reflux, Limb hypertonia, Abnormal pyramidal sign, Park... |
ORPHA:238455 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Inability to walk, Cleft palate, Ankle clonus, Reduced visual acuity, Babinski sign, Bifid uvula,... |
OMIM:618768 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Small for gestational age, Limb hypertonia, Cerebral palsy, Rigidity, Tremor, Seizure |
ORPHA:70594 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness |
OMIM:136900 |
Bardet-Biedl Syndrome 21 |
|
Blindness, Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypopla... |
OMIM:617406 |
Renpenning Syndrome |
|
Sensorineural hearing impairment, Anal atresia, High, narrow palate, Cleft palate, Cachexia, Roun... |
ORPHA:3242 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Reduced visual acuity, Babinski sign, Distal sensory impairment, Spastic paraplegia, Optic atroph... |
OMIM:615035 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Reduced visual acuity, Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity, Visua... |
OMIM:610156 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Reduced visual acuity, ... |
OMIM:270500 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... |
ORPHA:1876 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormali... |
OMIM:617519 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Loss of ambulation, Spastic paraparesis, Generalized myoclonic seizure, Reduced visual ac... |
ORPHA:3208 |
Retinitis Pigmentosa 32 |
|
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... |
OMIM:609913 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... |
ORPHA:2494 |
Alg6-Cdg |
|
Increased circulating androgen concentration, Failure to thrive, Ataxia, Retinal degeneration, Ro... |
ORPHA:79320 |
Fleck Retina, Familial Benign |
|
Blindness, Retinal flecks |
OMIM:228980 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Flynn-Aird Syndrome |
|
Cachexia, Cerebral cortical atrophy, EEG abnormality, Progressive sensorineural hearing impairment |
ORPHA:2047 |
Retinitis Pigmentosa 30 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... |
OMIM:607921 |
Adult-Onset Nemaline Myopathy |
|
High palate, Neuromuscular dysphagia, Difficulty walking, Bradykinesia |
ORPHA:171442 |
Leber Congenital Amaurosis 14 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Congenital blindness, Reduced visual acuity, Retinal... |
OMIM:613341 |
Retinitis Pigmentosa |
|
Photophobia, Blindness, Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal v... |
ORPHA:791 |
Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... |
OMIM:300623 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... |
ORPHA:827 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive |
|
Retinal nerve fiber edema, Retinal telangiectasia, Reduced visual acuity, Central retinal vessel ... |
OMIM:619382 |
Gm1 Gangliosidosis |
|
Ataxia, Oral aversion, Optic atrophy, Tremor, Spasticity, Unsteady gait, Weight loss, Bilateral t... |
ORPHA:354 |
Achromatopsia |
|
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... |
ORPHA:49382 |
Cohen Syndrome |
|
High, narrow palate, Decreased response to growth hormone stimulation test, Small for gestational... |
OMIM:216550 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:605909 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Nyctalopia... |
ORPHA:99947 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Intention tremor, Color vision defect, Dysdiadochokinesis, B... |
ORPHA:98890 |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 |
|
Congenital stationary night blindness, Blindness |
OMIM:610444 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Blindness |
OMIM:613830 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon... |
OMIM:604484 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Nephronophthisis 15 |
|
Obesity, Blindness, Retinal degeneration, Seizure |
OMIM:614845 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Rigid... |
ORPHA:98760 |
Leukodystrophy, Hypomyelinating, 15 |
|
Failure to thrive, Ataxia, Hypermetropia, Loss of ambulation, Cerebral atrophy, Intention tremor,... |
OMIM:617951 |
Retinitis Pigmentosa 33 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... |
OMIM:610359 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Ataxia, Tremor, Cogwheel rigidity, Visual impairment, Hypertonia, Resting tremor... |
ORPHA:254892 |
Congenital Stationary Night Blindness |
|
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... |
ORPHA:215 |
Infantile Refsum Disease |
|
Failure to thrive, Ataxia, Hepatomegaly, Nyctalopia, Rod-cone dystrophy, Constriction of peripher... |
ORPHA:772 |
Postencephalitic Parkinsonism |
|
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Babinski sign, Abnormal pyrami... |
ORPHA:97349 |
Macular Dystrophy, Vitelliform, 1 |
|
Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, ... |
OMIM:153840 |
Retinoschisis Of Fovea |
|
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Visual loss, Mildly reduced visual a... |
OMIM:268080 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Poor fine motor coordination, Spastic paraparesis, Bradykinesia, Polycythemia, Cirr... |
OMIM:613280 |
Congenital Disorder Of Glycosylation, Type In |
|
Failure to thrive, Ataxia, Hepatomegaly, Reduced visual acuity, Myoclonus, Spasticity, Seizure |
OMIM:612015 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hypertonia, Bradykinesia, Gastroesophageal reflux, Abnormal pyramidal sign, Parkinsonism, Rigidit... |
OMIM:613135 |
Retinitis Pigmentosa 4 |
|
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Blindness |
OMIM:613731 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Spastic paraplegia, Blindness |
OMIM:302700 |
Retinitis Pigmentosa 19 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:601718 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, Bilateral tonic-clonic seizure, Generalized-onset seizure, Seizure, Slowed slurred ... |
OMIM:619827 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Spinocerebellar Ataxia Type 7 |
|
Photophobia, Failure to thrive, Ataxia, Hemeralopia, Cerebral atrophy, Dysmetria, Macular degener... |
ORPHA:94147 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
Abetalipoproteinemia |
|
Ataxia, Hepatomegaly, Steatorrhea, Babinski sign, Fat malabsorption, Reticulocytosis, Scotoma, Im... |
ORPHA:14 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Reduced visual acuity, Babinski sign, Chorea, Optic atrophy, Spasticity, Visual impairmen... |
OMIM:258501 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... |
OMIM:617123 |
Mcdonough Syndrome |
|
Protruding ear, Cachexia, Low-set, posteriorly rotated ears, Macrotia, Cryptorchidism |
ORPHA:2471 |
Multiple System Atrophy |
|
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Autonomic erectile dysfunction, Orth... |
ORPHA:102 |
Macular Dystrophy, Vitelliform, 3 |
|
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... |
OMIM:608161 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Nyctalopia, Rod-cone dystrophy, Axonal degeneration, Impaired vibrati... |
ORPHA:88628 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration |
OMIM:616155 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
High palate, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Atonic seizure, Inability to walk, Dysmetria, Myoclonic seizure, Optic atrophy, Tremor, Gait atax... |
OMIM:617810 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neuromuscular dysphagia, Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski ... |
ORPHA:466722 |
Parkinsonian-Pyramidal Syndrome |
|
Bradykinesia, Abnormal autonomic nervous system physiology, Intention tremor, Myoclonus, Abnormal... |
ORPHA:171695 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Spastic paraparesis, Rhegmatogenous retinal detachmen... |
ORPHA:40923 |
Cone-Rod Dystrophy 12 |
|
Nyctalopia, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Central scotoma,... |
OMIM:612657 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, Di... |
ORPHA:306669 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cerebral atrophy, Cachexia, Global brain atrophy, Low-set ears, Posteriorly rotated ears, Failure... |
OMIM:616801 |
Retinitis Pigmentosa 35 |
|
Blindness, Nyctalopia, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:610282 |
Hereditary Late-Onset Parkinson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Cerebral cortical atrophy, Brady... |
ORPHA:411602 |
Retinitis Pigmentosa 38 |
|
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... |
OMIM:613862 |
Retinitis Pigmentosa 1 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:180100 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... |
OMIM:619007 |
Pelizaeus-Merzbacher Disease |
|
Cerebral cortical atrophy, Cachexia, Optic atrophy, Hearing impairment, Failure to thrive in infancy |
ORPHA:702 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Cachexia, Decreased nerve conduction velocity |
ORPHA:1933 |
Rett Syndrome |
|
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Abnormal autonomic nervous ... |
ORPHA:778 |
Spinocerebellar Ataxia Type 25 |
|
Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Reduced visual acuity, Babinski sign, ... |
ORPHA:101111 |
Sarcosinemia |
|
Ataxia, Congenital blindness, Tetraparesis, Optic atrophy, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Retinitis Pigmentosa 78 |
|
Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... |
OMIM:617433 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired proprioception, Visual field defect, Ataxia, Decreased body weight, Nyctalopia, Dysmetri... |
ORPHA:96180 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... |
OMIM:619531 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Inability to walk, Decreased circulating cortisol level, Difficulty walking, Spastic tetr... |
ORPHA:139396 |
Cone-Rod Dystrophy 2 |
|
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... |
OMIM:120970 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal hyperpigmentation, Constriction of peripheral visual field, Abnormal macular morpho... |
ORPHA:414 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Ring Chromosome 10 Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Cachexia, Low-set ears, Aganglionic megacolon |
ORPHA:1438 |
Tay-Sachs Disease |
|
Typical absence seizure, Gliosis, Inability to walk, Focal impaired awareness seizure, Optic atro... |
ORPHA:845 |
Leber Congenital Amaurosis 13 |
|
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... |
OMIM:612712 |
Sandhoff Disease |
|
Ataxia, Hepatomegaly, Exaggerated startle response, Cherry red spot of the macula, Macroglossia, ... |
OMIM:268800 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... |
OMIM:611131 |
Wolman Disease |
|
Splenomegaly, Steatorrhea, Cachexia, Esophageal varix, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Lymphadeno... |
ORPHA:100025 |
Cone-Rod Dystrophy 15 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... |
OMIM:613660 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet functi... |
ORPHA:2585 |
Retinitis Pigmentosa 54 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... |
OMIM:613428 |
Macular Degeneration, Early-Onset |
|
Reduced visual acuity, Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Multiple System Atrophy, Parkinsonian Type |
|
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Autonomic erectile dysfunction, Orth... |
ORPHA:98933 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Hepatomegaly, Jaundice, Cleft palate, Hypoplasia of the thymus, Pigmentary ret... |
OMIM:214110 |
Microphthalmia-Brain Atrophy Syndrome |
|
Cerebellar vermis atrophy, Generalized myoclonic seizure, Corpus callosum atrophy, Atrophy/Degene... |
ORPHA:77299 |
Retinitis Pigmentosa 2 |
|
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... |
OMIM:312600 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... |
OMIM:613794 |
Optic Atrophy 1 |
|
Centrocecal scotoma, Ataxia, Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Optic... |
OMIM:165500 |
Stargardt Disease 4 |
|
Reduced visual acuity, Macular degeneration, Retinal flecks |
OMIM:603786 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment |
OMIM:613758 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Abnormal autonomic nervous system physiology, Cerebellar gliosis, Abnormal pyramidal sign... |
ORPHA:35069 |
Newfoundland Rod-Cone Dystrophy |
|
Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment |
OMIM:607476 |
Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Blepharospasm, Bradykinesia, ... |
ORPHA:683 |
Optic Pathway Glioma |
|
Visual field defect, Precocious puberty, Papilledema, Reduced visual acuity, Visual loss, Optic a... |
ORPHA:2086 |
Parkinson Disease 1, Autosomal Dominant |
|
Gliosis, Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuff... |
OMIM:168601 |
Choroideremia |
|
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... |
ORPHA:180 |
Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... |
ORPHA:478029 |
Hypermanganesemia With Dystonia 2 |
|
Clumsiness, Bradykinesia, Cerebral atrophy, Opisthotonus, Inability to walk, Tip-toe gait, Ankle ... |
OMIM:617013 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Lower limb spasticity, Bradykinesia |
OMIM:618878 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Attenuation of retinal ... |
OMIM:616394 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Blindness, Hepatomegaly, Splenomegaly, Facial palsy, Facial paralysis, Optic a... |
OMIM:259700 |
Cataract 11, Multiple Types |
|
Hypertonia, Blindness, Chorea |
OMIM:610623 |
Retinitis Pigmentosa 7 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... |
OMIM:608133 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Optic disc pallor, Central sco... |
OMIM:616079 |
Retinitis Pigmentosa 50 |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Hepatitis,... |
ORPHA:444463 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Anemia, Cachexia, Mediastinal lymphadenopathy,... |
ORPHA:83469 |
Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Type II diabetes mellitus, Lymphopenia, Gait disturbance, Tremor, Spas... |
ORPHA:100 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Hemiplegia, Ataxia, Intestinal bleeding, Blindness, Retinal telangiectasia, Abnormal pyramidal si... |
OMIM:612199 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Constriction of peripheral visual field, Rod-cone dy... |
OMIM:600059 |
Primary Progressive Freezing Gait |
|
Gait imbalance, Cerebral cortical atrophy, Bradykinesia, Babinski sign, Rigidity, Frequent falls,... |
ORPHA:75567 |
Neuroferritinopathy |
|
Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, Difficulty walk... |
ORPHA:157846 |
Retinitis Pigmentosa 61 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation o... |
OMIM:614180 |
Retinitis Pigmentosa 18 |
|
Progressive visual field defects, Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia... |
OMIM:601414 |
Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Anemia, Leukopenia, Chronic otitis media, Abnormality of neutro... |
ORPHA:33355 |
Huntington Disease-Like 2 |
|
Weight loss, Cerebral cortical atrophy, Caudate atrophy |
ORPHA:98934 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Morm Syndrome |
|
Truncal obesity, Retinal dystrophy, Retinal atrophy, Progressive night blindness, Visual impairment |
ORPHA:75858 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Parkinsonism |
OMIM:617384 |
Infantile Krabbe Disease |
|
Failure to thrive, Gastroesophageal reflux, Decreased nerve conduction velocity, Cachexia, Optic ... |
ORPHA:206436 |
Tetrasomy 12P |
|
Cachexia, Anal atresia, Hypohidrosis, Abnormal soft palate morphology |
ORPHA:884 |
Adrenoleukodystrophy |
|
Paraparesis, Blindness, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Neur... |
OMIM:300100 |
Cone-Rod Dystrophy 21 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Nyctalopia, Dysm... |
ORPHA:96 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cerebral cortical atrophy, Gastroesophageal reflux, Clonus, Spasticity, Seizure, Blindness, Tetra... |
ORPHA:3137 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Photophobia, Failure to thrive, Abnormality of retinal pigmentation, Cholestatic liver disease, H... |
ORPHA:5 |
Parkinson Disease, Late-Onset |
|
Neuronal loss in central nervous system, Bradykinesia, Resting tremor, Abnormal autonomic nervous... |
OMIM:168600 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... |
ORPHA:2198 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Spastic diplegia, Increased mean platelet volume, Pyloric stenosis, Paten... |
OMIM:300048 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Sensorineural hearing impairment, Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer |
ORPHA:3217 |
Fleck Retina Of Kandori |
|
Blindness, Nyctalopia, Retinal flecks |
OMIM:228990 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Supranuclear Palsy, Progressive, 1 |
|
Photophobia, Senile plaques, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Cere... |
OMIM:601104 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Parkinsonism with favorable response to dopaminergic medication, Testicular atrophy, Bradykinesia... |
OMIM:157640 |
Usher Syndrome, Type Iv |
|
Ring scotoma, Retinal degeneration, Nyctalopia, Constriction of peripheral visual field, Retinal ... |
OMIM:618144 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Hypogonadism, Obesity, Cryptorchidism |
OMIM:615982 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopath... |
ORPHA:100083 |
Adult-Onset Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... |
ORPHA:199351 |
Retinitis Pigmentosa 17 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... |
OMIM:600852 |
Retinitis Pigmentosa 3 |
|
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... |
OMIM:300029 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Cachexia, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia,... |
OMIM:175500 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Gliosis, Gastroesophageal reflux, Cerebral atrophy, Cerebellar gliosis, Small for gestati... |
ORPHA:79243 |
Idiopathic Achalasia |
|
Dysphagia, Weight loss, Gastroesophageal reflux |
ORPHA:930 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Macular Dystrophy, Retinal, 4 |
|
Reduced OCT-measured foveal thickness, Reduced visual acuity, Choroidal neovascularization, Nycta... |
OMIM:619977 |
Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Nyctalopia, Constriction of peripheral visual field, Chorioretinal atrophy, Obesit... |
OMIM:303110 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum, Seizure, Chorioretinal coloboma |
OMIM:300864 |
Canavan Disease |
|
Blindness, Brain atrophy, Opisthotonus, Abnormal pyramidal sign, Epileptic spasm, Optic atrophy, ... |
OMIM:271900 |
Chromosome Xp11.3 Deletion Syndrome |
|
Blindness, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Moderate myop... |
OMIM:300578 |
Hirschsprung Disease |
|
Sensorineural hearing impairment, Failure to thrive in infancy, Intestinal obstruction, Intestina... |
ORPHA:388 |
Usher Syndrome Type 1 |
|
Ataxia, Cerebral cortical atrophy, High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Subco... |
ORPHA:231169 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Centrocecal scotoma, Ataxia, Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Optic... |
OMIM:125250 |
Cone Rod Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment |
ORPHA:1872 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Blurred vision, Nyctalopia, Rod-cone dystrophy |
OMIM:614494 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy, Blindness |
ORPHA:2787 |
Supranuclear Palsy, Progressive, 2 |
|
Photophobia, Gait imbalance, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Akin... |
OMIM:609454 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... |
OMIM:133780 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Retinitis Pigmentosa 68 |
|
Visual field defect, Retinal atrophy, Rod-cone dystrophy, Nyctalopia |
OMIM:615725 |
Retinitis Pigmentosa 9 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Macular a... |
OMIM:180104 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Ataxia, Hepatomegaly, Myoclonus, Pigmentary retinopathy, Type I diabetes melli... |
OMIM:560000 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Diffuse cerebellar atrophy, Bradykinesia, Cerebral cortical atrophy, Dysmetria, Abnormal ... |
ORPHA:93256 |
Usher Syndrome, Type Iiia |
|
Visual field defect, Reduced visual acuity, Nyctalopia, Rod-cone dystrophy |
OMIM:276902 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged s... |
OMIM:616648 |
Achromatopsia 7 |
|
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... |
OMIM:616517 |
Intestinal Dysmotility Syndrome |
|
High palate, Failure to thrive, Decreased intestinal transit time, Weight loss, Low-set ears |
OMIM:620045 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Failure to thrive, Hepatomegaly, Lymphopenia, Cleft palate, Splenomegaly, Cryptorchi... |
OMIM:612541 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Decreased body weight, Cerebral cortical atrophy, Cerebral atrophy, Neurodegeneration, Cerebellar... |
OMIM:617672 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... |
ORPHA:95427 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Cer... |
OMIM:208920 |
Retinal Cone Dystrophy 3B |
|
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Macular atrophy, Scotoma, Myopia |
OMIM:610356 |
Cone-Rod Dystrophy 13 |
|
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... |
OMIM:608194 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... |
OMIM:300476 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Visual field defect, Rod-cone dystrophy, Nyctalopia |
OMIM:614181 |
Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Loss of ambulation, Congenital blindness, Retinal detachment, Isosex... |
ORPHA:2788 |
Rett Syndrome |
|
Cachexia, Cerebral cortical atrophy, Gastroesophageal reflux, EEG abnormality |
OMIM:312750 |
Sjogren-Larsson Syndrome |
|
Photophobia, Macular degeneration, Spastic paraparesis, Color vision defect, Reduced visual acuit... |
OMIM:270200 |
Manganese Poisoning |
|
Hypertonia, Akinesia, Bradykinesia, Gait disturbance, Cogwheel rigidity, Postural tremor, Visual ... |
ORPHA:306682 |
Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Amaurosis fugax, Diplopia, Reduced visual acuity, Blurred vision, Parkinsoni... |
ORPHA:140989 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Leukocytosis, Splenomegaly, Congenital hypoplastic anemia, Cach... |
ORPHA:77297 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Nyctalopia, Rod-cone dystrophy, Absent retinal pigment epithelium, Attenuation of retinal blood v... |
ORPHA:436274 |
Cinca Syndrome |
|
Blindness, Hepatomegaly, Leukocytosis, Splenomegaly, Pseudopapilledema, Abnormal granulocyte morp... |
ORPHA:1451 |
Episodic Ataxia Type 6 |
|
Hemiplegia, Photophobia, Ataxia, Diplopia, Reduced visual acuity, Cerebellar atrophy, Seizure, Sl... |
ORPHA:209967 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Nyctalopia, Reduced visual acuity, Attenuation of re... |
OMIM:618826 |
Leber Congenital Amaurosis 16 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Optic disc pallor, Visual impairment |
OMIM:614186 |
Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Reduced visual acuity, Babinski sign... |
OMIM:618438 |
Choreoacanthocytosis |
|
Hepatomegaly, Frontal cortical atrophy, Chorea, Falls, Weight loss, Slurred speech, Hypertonia, L... |
ORPHA:2388 |
Retinitis Pigmentosa 79 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... |
OMIM:617460 |
Refsum Disease |
|
Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Nyctalopia, Splenomegaly, Re... |
ORPHA:773 |
Retinitis Pigmentosa 51 |
|
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... |
OMIM:613464 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Nyctalopia |
OMIM:615922 |
Jalili Syndrome |
|
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Optic disc pallor, Monochromacy |
OMIM:217080 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of pe... |
OMIM:267760 |
Retinitis Pigmentosa 85 |
|
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness |
OMIM:618345 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Nyctalopia, Rod-co... |
OMIM:613801 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Cog8-Cdg |
|
Failure to thrive, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Protein-losin... |
ORPHA:95428 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... |
OMIM:601813 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Weight loss, Cleft palate |
ORPHA:141152 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic paraparesis, Dysmetria, Generalized myoclonic seizure, Myoclonus, Dysdiadochokine... |
OMIM:614487 |
Immunodeficiency 31C |
|
Lymphopenia, Hypothyroidism, Villous atrophy, Delayed puberty, Diabetes mellitus, Autoimmune hemo... |
OMIM:614162 |
Cavitary Optic Disc Anomalies |
|
Visual field defect, Peripapillary atrophy, Nyctalopia, Reduced visual acuity |
OMIM:611543 |
Waisman Syndrome |
|
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait, Seizure |
OMIM:311510 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Decreased hemoglobin concentration, Retinal dystrophy, Hemolytic anemia, Tremor, Reticulo... |
ORPHA:713 |
Pontocerebellar Hypoplasia Type 2 |
|
Bilateral tonic-clonic seizure with generalized onset, Cerebral visual impairment, Gastroesophage... |
ORPHA:2524 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Elliptocytosis, Hemolytic anemia |
OMIM:130600 |
Blue Cone Monochromacy |
|
Photophobia, Blue cone monochromacy, Abnormality of macular pigmentation, Reduced visual acuity, ... |
OMIM:303700 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Hypoplasia of the thymus, Abnormal retinal morphology, Aplasia/... |
ORPHA:40366 |
Isaacs Syndrome |
|
Weight loss, EEG abnormality, Hyperhidrosis |
ORPHA:84142 |
Retinitis Pigmentosa 28 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic disc pallor, Bone ... |
OMIM:606068 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Congenital blindness, Retinal detachment, Insulin-resistant diabetes mellitus, Primary gonadal in... |
ORPHA:436182 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Chorea, Hemolytic anemia, Ileal ulcer, Thrombocytopenia |
OMIM:616744 |
Syndromic Diarrhea |
|
Colitis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Small for gestational age, Cirr... |
ORPHA:84064 |
Optic Atrophy 9 |
|
Red-green dyschromatopsia, Reduced visual acuity, Optic atrophy, Paracentral scotoma, Visual impa... |
OMIM:616289 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Central adrenal insufficiency, Bitemporal hemianopia, Hypogonadi... |
ORPHA:91349 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Extramedullary hematopoiesis, Hepatosplenomegaly, Facial paralysis, Op... |
OMIM:259710 |
Chediak-Higashi Syndrome |
|
Ataxia, Hepatomegaly, Hemophagocytosis, Tremor, Jaundice, Lymphadenopathy, Decreased nerve conduc... |
OMIM:214500 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Retinitis Pigmentosa 92 |
|
Nyctalopia, Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma,... |
OMIM:619614 |
Retinal Dystrophy And Obesity |
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Reduced visual acuity, Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy,... |
OMIM:616188 |
Bothnia Retinal Dystrophy |
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Nyctalopia, Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Hypertonia, Ataxia, Failure to thrive, Blindness, Optic atrophy, Diffuse cerebral atrophy, Centra... |
ORPHA:543470 |
Cone Dystrophy 4 |
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Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Visual impairment, Dyschromatopsia |
OMIM:613093 |
Cone Dystrophy 3 |
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Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Macular atrophy, Progressive visual ... |
OMIM:602093 |
Leber Congenital Amaurosis 15 |
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Hypermetropia, Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Color vision defect, Retinop... |
OMIM:613843 |
Joubert Syndrome With Oculorenal Defect |
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Ataxia, Blindness, Abnormality of the hypothalamus-pituitary axis, Retinal dystrophy, Seizure, Vi... |
ORPHA:2318 |
Tritanopia |
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Color vision test abnormality, Photophobia, Tritanomaly, Reduced visual acuity, Abnormal retinal ... |
ORPHA:88629 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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