Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Flexion contracture, Cognitive impairment, Spasticity |
OMIM:611105 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia, Fascicul... |
ORPHA:309169 |
Buschke-Ollendorff Syndrome |
|
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Dementia, Abnorma... |
ORPHA:79262 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density, Spastic paraplegia |
OMIM:250500 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Abnormality of extrapyramidal moto... |
OMIM:614561 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Dementia, Increased bone d... |
OMIM:136300 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... |
ORPHA:401901 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration |
OMIM:615048 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... |
ORPHA:2485 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Depr... |
ORPHA:216873 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus |
OMIM:159900 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra... |
OMIM:615362 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra... |
OMIM:213600 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalce... |
ORPHA:36913 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Choreoathetosis, Irritabilit... |
OMIM:261630 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme... |
OMIM:606438 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations... |
ORPHA:276435 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... |
OMIM:618093 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Mental deterioration, Ataxia, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Saccharopinuria |
|
Tremor, Mental deterioration, Hypercystinemia, Spastic diplegia, Gait ataxia, Hyperammonemia, Abn... |
ORPHA:3124 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ... |
ORPHA:314632 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Memory impairment |
OMIM:614018 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Ataxia, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Poor fine motor coo... |
ORPHA:98762 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal ataxia, Spasticity |
OMIM:615768 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia, Emotional lability |
OMIM:128235 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat... |
ORPHA:240103 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomyopathy |
OMIM:620270 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cognitive impairme... |
OMIM:617284 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thrive |
OMIM:618201 |
Hypermanganesemia With Dystonia 2 |
|
Limb dystonia, Generalized dystonia, Limb joint contracture, Parkinsonism, Elevated circulating c... |
OMIM:617013 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Spasticity, Irritability, Hy... |
OMIM:616881 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, Dystonia, Reduced haptoglobin level |
OMIM:612126 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Flexion contracture, Hypertonia, Mental deterioration, Spasticity |
OMIM:609260 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... |
ORPHA:454887 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... |
ORPHA:98763 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Depression, Irritability, Hyper... |
ORPHA:94089 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... |
OMIM:620366 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Mental deterioration, Memory impairment, Pa... |
ORPHA:240085 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coord... |
ORPHA:363400 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidi... |
OMIM:261640 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc... |
OMIM:159950 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Mental deterioration,... |
OMIM:208920 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Failure to thrive, Craniosynostosis,... |
OMIM:259700 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Flexion contracture, Clumsiness, Hepatosplenomegaly, Eyelid myoclonus, Myoclonus, Mental ... |
ORPHA:2590 |
Schnitzler Syndrome |
|
Splenomegaly, Arthritis, Increased bone mineral density, Hepatomegaly |
ORPHA:37748 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia |
OMIM:618387 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa... |
OMIM:614307 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Obesity, Depression, Memory impairment, Hyperostosis frontalis inte... |
ORPHA:77296 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, U... |
ORPHA:87876 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly, Osteopetrosis |
OMIM:611490 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:617145 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Limb fasciculations, Elevated circulating creatine kinase concentration, Fatiguable weakn... |
ORPHA:90117 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dementia, Myoclonus,... |
ORPHA:79263 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... |
ORPHA:3240 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Elevate... |
OMIM:612953 |
Trisomy X |
|
Tremor, Depression, Joint hyperflexibility, Attention deficit hyperactivity disorder, Cognitive i... |
ORPHA:3375 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, I... |
OMIM:233910 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia |
OMIM:615010 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... |
ORPHA:254881 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Chorea, Spastic tetraplegia, Spasticity, Irri... |
OMIM:617864 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Short attention span, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Ddost-Cdg |
|
Osteopenia, Lipodystrophy, Tremor, Oromotor apraxia, Failure to thrive |
ORPHA:300536 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Hepato... |
ORPHA:355 |
Myopathy With Extrapyramidal Signs |
|
Joint laxity, Hepatomegaly, Extremely elevated creatine kinase, Ventricular septal defect, Clonus... |
OMIM:615673 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Spastic tetrapl... |
OMIM:300055 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog... |
ORPHA:70594 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Emotional lability |
OMIM:616269 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... |
OMIM:614856 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... |
OMIM:615157 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Splenomegaly, Flexion cont... |
ORPHA:77297 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment |
ORPHA:820 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Clonus, Splenomegaly, Cranial hyperostosis, Spastic... |
OMIM:259720 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... |
ORPHA:1782 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of extrapyramidal motor func... |
ORPHA:178509 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis |
ORPHA:329284 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Memory impair... |
OMIM:137440 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Involuntary movements, Confusion, Obesity, Reduced bo... |
ORPHA:79443 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Confusion, Obesity, Depression, Irritability, Hyperph... |
ORPHA:79444 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... |
OMIM:239000 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Depression, Cognitive imp... |
OMIM:616795 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Classic Phenylketonuria |
|
Tremor, Mental deterioration, Paraplegia, Depression, Hypertonia, Attention deficit hyperactivity... |
ORPHA:79254 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... |
OMIM:619738 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Babinski sign, Flexion contracture, Spastic paraplegia, Ankle clonus |
OMIM:609541 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Mental deterioration, Em... |
ORPHA:542310 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Rickets |
OMIM:619232 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... |
ORPHA:93160 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Lower limb spasticity, Parkinsonism, Tremor, Abnormal fear-induced behavior, Obes... |
ORPHA:3077 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Atrial septal defec... |
OMIM:617744 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis... |
OMIM:618476 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t... |
ORPHA:199351 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Osteopetrosis |
OMIM:615085 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Increased susceptibility to fractures, Dystonia, Mental deterioration, Spasticity |
OMIM:304700 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Babinski ... |
OMIM:128100 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... |
ORPHA:1170 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Elevated circulating creatine kinase concentration, T... |
OMIM:614298 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur... |
OMIM:210000 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Joint stiffness |
ORPHA:209335 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... |
OMIM:619405 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Cardiomyopathy, Dementia,... |
ORPHA:329478 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... |
ORPHA:36387 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Rickets of the lower limbs |
ORPHA:882 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Tremor, Limitation of joint mobility, Hypertonia, Abnormal ... |
ORPHA:1192 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Osteoporosis, Rickets, Myoclonus, Failure to thrive |
OMIM:560000 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, Rigidity, Dementia, Cognitive impairment |
OMIM:603472 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive |
OMIM:211600 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Atrial septal defec... |
OMIM:620327 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Clonus, Tre... |
OMIM:619424 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia, Periodic paralysis |
OMIM:267200 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation,... |
OMIM:312080 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... |
OMIM:264700 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Flexion contracture, Slurred speech, Babinski sign, Clumsiness, Poor fine... |
ORPHA:137898 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Abnormal synaptic transmission, Dement... |
ORPHA:683 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Cranial hyperostosis, Depression, Hyperkinetic movements, Upper limb spasticity |
ORPHA:457240 |
Spinocerebellar Ataxia Type 27 |
|
Tremor, Limb ataxia, Hand tremor, Gait ataxia, Depression, Truncal ataxia, Memory impairment |
ORPHA:98764 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pericardial effusion, Abnormal myocardi... |
ORPHA:77259 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx... |
ORPHA:765 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Peroxisome Biogenesis Disorder 5B |
|
Joint laxity, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Oculom... |
OMIM:614867 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum... |
OMIM:277900 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures, Abnormality of extrapyramidal motor fu... |
ORPHA:320406 |
12Q14 Microdeletion Syndrome |
|
Tremor, Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Mitral valve calcification, Abnormal heart valve mo... |
ORPHA:77261 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... |
OMIM:277440 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Ir... |
ORPHA:289157 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomotor deterio... |
OMIM:268800 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... |
ORPHA:289494 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu... |
OMIM:608799 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Blepharospas... |
ORPHA:101 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Parkinsonism, Involuntary... |
ORPHA:48818 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin... |
OMIM:613280 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... |
ORPHA:763 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... |
ORPHA:352649 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits |
ORPHA:3352 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Depression, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Hyperekplexia 1 |
|
Inguinal hernia, Exaggerated startle response, Hypertonia, Myoclonus, Umbilical hernia, Frequent ... |
OMIM:149400 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Hypertonia, Dementia |
OMIM:272800 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Rigidity, Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia |
OMIM:614619 |
Werner Syndrome |
|
Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Osteoporosis, Slende... |
ORPHA:902 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Desmosterolosis |
|
Increased bone mineral density, Rigidity, Splenomegaly, Anomalous pulmonary venous return, Hypert... |
ORPHA:35107 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Small for gestational age, Tremor, Depression, Truncal obesity, Hyperkinetic moveme... |
OMIM:300957 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Failure to thrive, Rickets, Hepatosplenomegaly |
OMIM:611590 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Hand tremor, Dys... |
OMIM:302800 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Myoclonus, Attentio... |
ORPHA:442835 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... |
ORPHA:800 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, Mental det... |
OMIM:300894 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Facial hyperostosis, Coarse... |
ORPHA:2780 |
Cystathioninuria |
|
Tremor, Cystathioninemia |
ORPHA:212 |
Amish Nemaline Myopathy |
|
Tremor, Hip contracture, Shoulder flexion contracture |
ORPHA:98902 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Mental deterioration, Focal... |
ORPHA:52368 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Tr... |
ORPHA:1578 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Tremor, Atrophic scars, Mental deterioration, Hemiplegia |
OMIM:182410 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Tremor, Hip contracture, Decreased hip abduction, Shoulder flexion contracture |
OMIM:605355 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... |
OMIM:131300 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Clonus, Flexion contracture, Elbow f... |
OMIM:617301 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia, Failure ... |
OMIM:607765 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Spastic paraplegia, Babinski sign, Reduced bone mineral density |
ORPHA:83629 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Myoclonus... |
OMIM:616505 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Pericardial effusion, Weight loss,... |
ORPHA:2905 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia |
ORPHA:89937 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Hepatomegaly, Osteopetrosis, Hepatosplenomegaly |
OMIM:612840 |
Citrullinemia Type Ii |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... |
ORPHA:247585 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Gait ataxia, Choreoathetosis, Br... |
OMIM:618877 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly, Myoclonus, Spasticity |
ORPHA:309155 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Tremor, Flexion contracture, Dementia, Decreased body weight |
OMIM:278760 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Frontotemporal dementia, Depression, Bradykinesia, Weight loss, D... |
OMIM:168605 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemipa... |
OMIM:105210 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Mental deterioration, Blepharospas... |
ORPHA:240071 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordination, Dysmetria, Clumsi... |
ORPHA:228360 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Arthritis, Vocal cord paralysis, Mildly elevated creatine kinase |
ORPHA:397744 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Mental deteriorat... |
ORPHA:79095 |
Desmosterolosis |
|
Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, To... |
OMIM:602398 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:253800 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Depression, Multiple lipomas, Hypophosphatemia, Cho... |
OMIM:600740 |
Tetanus |
|
Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, H... |
ORPHA:3299 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Limb ataxia, Dysmetria, Depre... |
OMIM:617675 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Progressive neurologic deterioration, Large for gestational age, Tremor, Abnormal c... |
ORPHA:263455 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Rickets, Hypophosp... |
OMIM:227810 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression |
OMIM:620114 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Osteopetrosis |
OMIM:618541 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Abnormal heart valve morphology, ... |
ORPHA:90652 |
Cystinosis |
|
Rickets, Abnormal pyramidal sign, Hypokalemia, Hypophosphatemia, Failure to thrive |
ORPHA:213 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... |
ORPHA:1798 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Babinski sign, Abnormal pyramidal sign, Contractures of t... |
OMIM:617527 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Tremor, Generalized joint laxity, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadoc... |
ORPHA:502423 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Abnormal pericardium morphology, Osteolysi... |
ORPHA:35687 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:168600 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile aci... |
ORPHA:79303 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Osteoporosis, Rickets, Depression, Weight loss, Hypocalcemia, Enamel hypoplasia, Failure ... |
OMIM:212750 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypouricemia, Large for gestational age, Rickets, Hypophosphatemia |
OMIM:616026 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Tremor, Head titubation, Flexion contracture, Abnorma... |
ORPHA:99027 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Clonus, Tremor, Spastic tetraplegia, Irritability, Hypertonia, Fail... |
OMIM:615574 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphology, Tremor,... |
ORPHA:667 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Osteopetrosis, Periodic hypokalem... |
OMIM:259730 |
Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Rigidity, Depression, Bradykinesia, Frontal lobe dementia, Dementia... |
ORPHA:2828 |
Migraine, Familial Hemiplegic, 2 |
|
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Failure to thrive, Ataxia, Elevated circulating creatine kinase concentration, Tr... |
ORPHA:254892 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity |
OMIM:176500 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Rigidity, Contractures of ... |
ORPHA:521426 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional labilit... |
OMIM:201100 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to thrive |
ORPHA:2088 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega... |
ORPHA:904 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Dementia, Oculomotor apraxia |
ORPHA:240094 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Tremor, Osteoporosis, Abnormal pyramidal sign, Mental deterioration, Increase... |
OMIM:612199 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Pericarditis, Ataxia, Tremor, Pericardial effusion, Abnormal subcutaneo... |
OMIM:212065 |
Hyperlysinemia |
|
Short attention span, Neck hypertonia, Failure to thrive, Poor motor coordination, Craniosynostos... |
ORPHA:2203 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... |
ORPHA:249 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Craniosynostosis, Tremor, Splenomegaly, Irritability, Hyperkinetic movements, Emoti... |
ORPHA:525731 |
Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... |
OMIM:259775 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Opisthotonus, Arthrogryposi... |
ORPHA:2671 |
Dent Disease |
|
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... |
ORPHA:1652 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
OMIM:241410 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Weight loss, Periodic paralysis |
OMIM:613239 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Lipoatrophy, Aortic... |
ORPHA:79474 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormality of extrapyramidal m... |
ORPHA:79255 |
Serotonin Syndrome |
|
Clonus, Confusion, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D... |
ORPHA:43116 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Tongue fasciculations |
OMIM:608800 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Myoclonus, Spas... |
OMIM:617281 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Co... |
ORPHA:25 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Incoordination, Ataxia, Ventricular septal defect, Progressive neurologic deteri... |
OMIM:614947 |
Alexander Disease |
|
Osteopenia, Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, Emo... |
ORPHA:58 |
Tick-Borne Encephalitis |
|
Speech apraxia, Stiff neck, Incoordination, Elevated circulating C-reactive protein concentration... |
ORPHA:297 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me... |
OMIM:615530 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Hyperoxaluria |
OMIM:259900 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D... |
OMIM:610505 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... |
ORPHA:562 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... |
OMIM:615356 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Osteomalacia, Elevated circulat... |
OMIM:309000 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypokalemia, Cognitive impairment, Hypophosphatemia, F... |
ORPHA:411629 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Hypocalcemic seiz... |
OMIM:612301 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Hypouricemia, Increased circulating guanosine concentration, Tremor, Splenomegaly, Spasti... |
OMIM:613179 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Paralysis, Rickets, Increased susceptibility to fractures, Reduced bone mineral den... |
ORPHA:18 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis, Cardiomyopathy, Failure to thrive |
ORPHA:416 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abno... |
ORPHA:2131 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Dement... |
ORPHA:447753 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Spasticity, Irritability, Hypertonia, Hypertrophi... |
OMIM:616539 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Small for gestational age, Rickets, Reduced bone miner... |
OMIM:613658 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Extrapyramidal muscular rigidity, Lipoatrophy, Cardiomegaly, Tremor,... |
ORPHA:51 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Exaggerated startle response, Uterine prolapse, Bicuspid aortic valve, ... |
ORPHA:438213 |
Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Tremor, Depression, Increased serum bile acid concentration, Hyperbili... |
ORPHA:69665 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, D... |
OMIM:234200 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... |
OMIM:119600 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Recurrent fractures, Osteopetro... |
ORPHA:2785 |
Occipital Horn Syndrome |
|
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... |
ORPHA:198 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment |
OMIM:146500 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Clonus, Hypoam... |
ORPHA:534 |
Sclerosteosis 1 |
|
Cognitive impairment, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubul... |
OMIM:269500 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem... |
ORPHA:3337 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irritability, Retro... |
OMIM:601104 |
Ataxia-Telangiectasia |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Slurred speech, Choreoathet... |
OMIM:208900 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ... |
ORPHA:94093 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Progressive neurologic deterioration, S... |
OMIM:219800 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Opisthotonus, Sclerosis of skull base, Atrial septal defect, Fai... |
OMIM:269150 |
Dpagt1-Cdg |
|
Hepatomegaly, Ataxia, Lipodystrophy, Tremor, Flexion contracture, Osteoporosis, Hypertonia, Campt... |
ORPHA:86309 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Hypertonia, Spasticity |
OMIM:618367 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... |
ORPHA:79102 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Tremor, Elevated circulating creatinine concentration, Confusion, Increased blood urea nitrogen |
OMIM:274150 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Rigidity, Osteoporosis, Rickets, Hyperto... |
ORPHA:2636 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
OMIM:619381 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Failure to thrive in infancy, Osteomalacia, Cardiomegaly, Pericardial ef... |
ORPHA:51608 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Ventricular septal defect, Attention deficit hyperactivity disorder... |
OMIM:619522 |