Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphosis, Dis... |
OMIM:617087 |
Nemaline Myopathy 4 |
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Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Waddling gait, Di... |
OMIM:609285 |
Charcot-Marie-Tooth Disease Type 1A |
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Decreased motor nerve conduction velocity, Gait disturbance, Skeletal muscle atrophy, Paresthesia... |
ORPHA:101081 |
X-Linked Spinocerebellar Ataxia Type 4 |
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Postural tremor, Dementia, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty wal... |
ORPHA:85292 |
Roussy-Lévy Syndrome |
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Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired pain sensation, Kyph... |
ORPHA:3115 |
Optic Atrophy 2 |
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Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Ataxia, Kyphoscoliosis, Respiratory distress, Distal amyotrophy |
OMIM:619099 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
Episodic Ataxia, Type 1 |
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Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Congenital Muscular Dystrophy Without Intellectual Disability |
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Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, Kyphoscoliosis, EMG: myopathic... |
ORPHA:370980 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
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Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, Distal sensory impairme... |
OMIM:605588 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
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Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
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Steppage gait, Hand tremor, Somatic sensory dysfunction |
OMIM:300905 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
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Small for gestational age, Failure to thrive, Kyphoscoliosis, Arthrogryposis multiplex congenita,... |
OMIM:212540 |
Spinal Muscular Atrophy, Ryukyuan Type |
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Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis |
OMIM:271200 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
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Upper limb amyotrophy, Kyphoscoliosis, Knee flexion contracture, Proximal muscle weakness in uppe... |
ORPHA:496689 |
Episodic Ataxia With Slurred Speech |
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Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
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Distal sensory impairment, Ankle flexion contracture, Foot dorsiflexor weakness, Kyphoscoliosis |
OMIM:616668 |
Primary Orthostatic Tremor |
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Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spastic Paraplegia 18, Autosomal Recessive |
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Gait disturbance, Skeletal muscle atrophy, Kyphosis, Scoliosis, Lower limb muscle weakness |
OMIM:611225 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Dystonia, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper motor neuron d... |
ORPHA:401901 |
Charcot-Marie-Tooth Disease Type 4D |
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Decreased motor nerve conduction velocity, Upper limb amyotrophy, Kyphoscoliosis, Decreased ampli... |
ORPHA:99950 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
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Abnormal cortical gyration, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Con... |
OMIM:607855 |
Spinocerebellar Ataxia Type 15/16 |
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Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
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Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity |
OMIM:611105 |
Ataxia-Oculomotor Apraxia Type 4 |
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Dystonia, Progressive distal muscular atrophy, Obesity, Kyphoscoliosis, Muscular dystrophy, Ataxi... |
ORPHA:459033 |
Autosomal Spastic Paraplegia Type 72 |
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Postural tremor, Impaired vibration sensation at ankles, Rigidity, Spastic gait, Memory impairment |
ORPHA:401849 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
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Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Maternal Uniparental Disomy Of Chromosome 9 |
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Elbow ankylosis, Abnormal vertebral morphology, Failure to thrive, Hamstring contractures, Osteoc... |
ORPHA:96183 |
Roussy-Levy Hereditary Areflexic Dystasia |
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Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal sensory impairment, Distal amyo... |
OMIM:180800 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Kyphosis, Distal lower l... |
ORPHA:101075 |
Choreoathetosis, Familial Inverted |
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Gait disturbance, Dementia, Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign |
OMIM:118750 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
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Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
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Decreased motor nerve conduction velocity, Limb muscle weakness, Steppage gait, Kyphoscoliosis, D... |
OMIM:118220 |
Parkinson Disease 19A, Juvenile-Onset |
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Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Autosomal Recessive Spastic Paraplegia Type 71 |
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Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
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Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, Distal sensory impairme... |
OMIM:145900 |
Adult Neuronal Ceroid Lipofuscinosis |
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Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... |
ORPHA:79262 |
Epilepsy, Progressive Myoclonic 7 |
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Tremor, Ataxia, Myoclonus, Mental deterioration |
OMIM:616187 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
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Inability to walk, Kyphoscoliosis, Flexion contracture |
OMIM:617977 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Charcot-Marie-Tooth Disease, Type 4B2 |
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Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, Distal sensory impairme... |
OMIM:604563 |
Charcot-Marie-Tooth Disease, Type 4K |
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Dystonia, Skeletal muscle atrophy, Kyphoscoliosis, Ataxia, Difficulty walking |
OMIM:616684 |
Brown-Vialetto-Van Laere Syndrome 2 |
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Optic atrophy, Respiratory insufficiency, Limb muscle weakness, Kyphoscoliosis, Facial palsy, Gen... |
OMIM:614707 |
Multiple Epiphyseal Dysplasia Type 5 |
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Abnormal acetabulum morphology, Gait disturbance, Genu varum, Abnormal hip joint morphology, Mult... |
ORPHA:93311 |
Spinocerebellar Ataxia 43 |
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Rigidity, Distal sensory impairment, Ataxia, Tremor, Limb ataxia, Gait ataxia |
OMIM:617018 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
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Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia Type 31 |
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Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity |
ORPHA:217012 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
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Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... |
OMIM:615362 |
Spinocerebellar Ataxia Type 12 |
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Postural tremor, Parkinsonism, Dementia, Gait disturbance, Tremor by anatomical site, Cognitive i... |
ORPHA:98762 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
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Decreased motor nerve conduction velocity, Limb muscle weakness, Steppage gait, Kyphoscoliosis, D... |
OMIM:118200 |
Spinocerebellar Ataxia 20 |
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Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
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Decreased muscle mass, Kyphoscoliosis, Shuffling gait, Atlantoaxial abnormality |
ORPHA:3433 |
Spinocerebellar Ataxia 37 |
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Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia Type 38 |
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Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... |
ORPHA:101078 |
Paralysis Agitans, Juvenile, Of Hunt |
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Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Clumsiness, Parkinsonism, Gait disturbance, Violent behavior, Rigidity, Frequent falls, Chorea, C... |
ORPHA:216873 |
Parastremmatic Dwarfism |
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Genu valgum, Kyphosis, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
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Tremor, Dystonia, Myoclonus, Involuntary movements |
OMIM:611092 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
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Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
Corticobasal Syndrome |
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Involuntary movements, Gait disturbance, Oromotor apraxia, Dementia, Limb myoclonus, Dystonia, Li... |
ORPHA:454887 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
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Distal sensory impairment, Kyphoscoliosis, Decreased motor nerve conduction velocity, Distal amyo... |
OMIM:607831 |
Sillence Syndrome |
|
Flat acetabular roof, Abnormal vertebral morphology, Intervertebral disc degeneration, Slender bu... |
ORPHA:3168 |
Central Core Disease |
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Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Neonatal respirat... |
ORPHA:597 |
Alkaptonuria |
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Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Thickened Achilles tendo... |
OMIM:203500 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Babinski sign, Cognitive impairment, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady g... |
OMIM:615768 |
Dystonia 3, Torsion, X-Linked |
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Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
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Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... |
OMIM:600175 |
Cyanide-Induced Parkinsonism-Dystonia |
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Rigidity, Apathy, Bradykinesia, Shuffling gait, Falls, Resting tremor, Short stepped shuffling ga... |
ORPHA:306692 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Leukodystrophy, Hypomyelinating, 17 |
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Inability to walk, Kyphoscoliosis, Respiratory distress, Flexion contracture |
OMIM:618006 |
Developmental And Epileptic Encephalopathy 41 |
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Inability to walk, Kyphoscoliosis, Flexion contracture, Lethargy |
OMIM:617105 |
Myopathic Ehlers-Danlos Syndrome |
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Joint contracture of the hand, Elbow flexion contracture, Contractures involving the joints of th... |
ORPHA:536516 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
Progressive Myoclonic Epilepsy Type 1 |
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Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Brachyolmia Type 1, Toledo Type |
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Precocious costochondral ossification, Intervertebral space narrowing, Gait disturbance, Irregula... |
OMIM:271630 |
Cerebellar Ataxia, Cayman Type |
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Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia |
ORPHA:94122 |
Ullrich Congenital Muscular Dystrophy 2 |
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Kyphoscoliosis, Facial palsy, Congenital muscular dystrophy, Nocturnal hypoventilation, Increased... |
OMIM:616470 |
Tremor, Hereditary Essential, 6 |
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Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
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Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Scheuermann Disease |
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Morbus Scheuermann, Osteochondrosis, Kyphosis |
OMIM:181440 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
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Tremor, Babinski sign, Gait disturbance, Spastic paraplegia |
OMIM:300660 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Hypogonadism, Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture |
OMIM:612079 |
Dystonia 11, Myoclonic |
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Writer's cramp, Agoraphobia, Torticollis, Myoclonus, Tremor, Anxiety |
OMIM:159900 |
Primary Dystonia, Dyt27 Type |
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Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
Cerebellar Ataxia And Albinism |
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Head tremor, Ataxia |
OMIM:258300 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Respiratory insufficiency due to muscle weakness, Kyphosis, Spinal rigidity, Hyperlordosis, Incre... |
OMIM:300718 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
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Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... |
OMIM:118610 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Skeletal muscle hypertrophy, Vertebral wedging, Beaking of vertebral bodie... |
ORPHA:3101 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis |
OMIM:618323 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Stridor, Triceps weakness, Impaired pain sensation, Kyphoscoliosi... |
OMIM:619574 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Knee dislocation, Hip contracture, Coronal cleft vertebrae, Irregular vertebral endplates, Abnorm... |
OMIM:618363 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Dysmetria, Kyphoscoliosis, Spastic gait, Ankle clonus, Flexion contracture, Distal amyotrophy, Ca... |
OMIM:275900 |
Chorea, Benign Hereditary |
|
Chorea, Anxiety, Gait disturbance |
OMIM:118700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... |
OMIM:606612 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
Spinocerebellar Ataxia Type 28 |
|
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Cognitive impairment, Spasticity, Head tremor,... |
ORPHA:101109 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Dementia, Abnormal pyramidal sign |
OMIM:301840 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety |
OMIM:606438 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Myocl... |
ORPHA:314632 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Choreoathetosis, Kyphoscoliosis, Spastic gait, Facial hypotonia, Bradykinesia, Shufflin... |
OMIM:300055 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Kyphoscoliosis, Scoliosis, Small for gestational age |
OMIM:300844 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Kyphoscoliosis, Flexion contracture, Camptodactyly, Respiratory failure |
OMIM:618011 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
Leukodystrophy, Hypomyelinating, 3 |
|
Failure to thrive, Progressive flexion contractures, Kyphoscoliosis, Arthrogryposis multiplex con... |
OMIM:260600 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
Bethlem Myopathy 2 |
|
Myopathy, Kyphosis, Hip dislocation, Increased variability in muscle fiber diameter, Flexion cont... |
OMIM:616471 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Gait disturbance, Skeletal muscle hypertrophy, Impaired pain sensation, Kyphosis, ... |
ORPHA:99014 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal sensory impairment, Inability t... |
OMIM:214400 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Apraxia, Spasticity, F... |
OMIM:612953 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Firm muscles, Skeletal muscle hypertrophy, Vertebral wedging, Kyphoscoliosis, Genu valgum |
OMIM:255710 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... |
ORPHA:98763 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Gait disturbance, Cubitus valgus, Kyphosis, Hypogonadism, Congenital muscular dystrophy |
ORPHA:1875 |
Primary Dystonia, Dyt4 Type |
|
Gait disturbance, Torticollis, Kyphoscoliosis, Eunuchoid habitus, Laryngeal dystonia, Respiratory... |
ORPHA:98805 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Mental deterioratio... |
OMIM:615924 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety |
OMIM:141500 |
Diastrophic Dysplasia |
|
Costal cartilage calcification, Hip contracture, Kyphoscoliosis, Cervical kyphosis, Hypoplastic c... |
OMIM:222600 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety |
OMIM:605909 |
Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... |
OMIM:604326 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Abnormality of the elbow, Abnormal vertebral morphology, Beaking of vertebral bodies, Failure to ... |
ORPHA:93359 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Unsteady gait, Truncal ataxia, Tremor |
OMIM:616127 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Arthrogryposis multipl... |
OMIM:618291 |
You-Hoover-Fong Syndrome |
|
Ataxia, Kyphoscoliosis |
OMIM:616954 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Platyspondyly, Increased vertebral height |
ORPHA:93304 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Respiratory insuffi... |
OMIM:181405 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Kyphoscoliosis |
ORPHA:300179 |
Episodic Ataxia Type 1 |
|
Choreoathetosis, Kyphoscoliosis, Respiratory distress, Tip-toe gait, Calf muscle hypertrophy, Sco... |
ORPHA:37612 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
Dysspondyloenchondromatosis |
|
Osteoarthritis, Kyphoscoliosis, Joint dislocation, Platyspondyly, Genu valgum, Anisospondyly, Enl... |
ORPHA:85198 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Dementia, Aggressive behavior, Falls, Bradykinesia, Spastic tetraple... |
OMIM:617225 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly |
OMIM:616583 |
Nemaline Myopathy 2 |
|
Slender build, Apnea, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial muscula... |
OMIM:256030 |
Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, Irritability |
OMIM:612126 |
Progressive Pseudorheumatoid Dysplasia |
|
Genu varum, Decreased cervical spine mobility, Kyphoscoliosis, Enlarged interphalangeal joints, P... |
OMIM:208230 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Chorea, Kyphoscoliosis, Hypogonadotropic hypogonadism,... |
OMIM:604168 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... |
OMIM:117360 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Restrictive ventilatory defect, Weakness of facial musculature, Small for gestational age, Arthro... |
OMIM:618484 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Kyphoscoliosis, Wormian bones, Platyspondyly, Dislocated radial head, De... |
OMIM:614856 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Skeletal muscle atrophy, Facial diplegia, Respiratory insufficiency due to muscle weakn... |
OMIM:611890 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Apathy, Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to ... |
ORPHA:240085 |
Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
King-Denborough Syndrome |
|
Minicore myopathy, Weakness of facial musculature, Failure to thrive, Kyphoscoliosis, Muscle fibe... |
OMIM:619542 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... |
OMIM:616053 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Tremor, Hypertonia, I... |
OMIM:261630 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Dysmetria, Cognitive impairment, Tremor, Oculomotor apraxia, Dysdiado... |
OMIM:617145 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... |
ORPHA:423275 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxi... |
OMIM:607346 |
Congenital Myasthenic Syndrome |
|
Spinal deformities, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mult... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Spinal deformities, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mult... |
ORPHA:98914 |
Myopathy, Congenital, Bailey-Bloch |
|
Restrictive ventilatory defect, Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture |
OMIM:255995 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fasciculations, Tremor... |
OMIM:611302 |
13Q12.3 Microdeletion Syndrome |
|
Obstructive sleep apnea, Impaired pain sensation, Failure to thrive, Congenital diaphragmatic her... |
ORPHA:412035 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hip contracture, Ab... |
ORPHA:99642 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in lower limbs, Optic atrophy, Hand muscle weakness, Paresthesia, Weakne... |
ORPHA:99956 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Kyphoscoliosis, Small for gestational age, Camptodactyly of finger |
OMIM:610756 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Coronal cleft vertebrae, Respiratory insufficiency, Kyphoscoliosis, Severe failure to thrive, Fle... |
OMIM:215100 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
Foxg1 Syndrome |
|
Dystonia, Abnormal respiratory system physiology, Choreoathetosis, Kyphoscoliosis, Pachygyria, In... |
ORPHA:561854 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Restrictive ventilatory defect, Pelvic girdle muscle weakness, Vertebral fusion, Macroglossia, Ac... |
OMIM:607155 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... |
ORPHA:98764 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Difficulty walking, Progressive ... |
ORPHA:401820 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired proprioception, Failure to thrive, Upper limb hypertonia, Kyphosis, Impaired vibratory s... |
ORPHA:319199 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Optic atrophy, Choreoathetosis, Kyphoscoliosis, Inability to walk, Flexion contracture |
OMIM:617664 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased muscle mass, Lumbar kyphosis in infancy, Dysmetria, Patellar subluxation, Kyphoscoliosi... |
ORPHA:3041 |
Myopathy, Centronuclear, 2 |
|
Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, EMG: myopathic abnormal... |
OMIM:255200 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis |
OMIM:146720 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
Spinocerebellar Ataxia 48 |
|
Babinski sign, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deterioration, P... |
OMIM:618093 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Athetosis, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Skeletal muscle atrophy, Hypoplastic acetabulae, Platyspondyly, Kyphosis, Scoliosis, An... |
OMIM:230650 |
Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention tremor, Progressive cere... |
ORPHA:276193 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased laxity of ankles, Reduced muscle collagen VI, Respiratory insufficiency, Torticollis, F... |
OMIM:254090 |
Chst3-Related Skeletal Dysplasia |
|
Intervertebral space narrowing, Abnormality of the elbow, Kyphoscoliosis, Abnormal form of the ve... |
ORPHA:263463 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Brunner Syndrome |
|
Self-injurious behavior, Low frustration tolerance, Aggressive behavior, Kinetic tremor |
OMIM:300615 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Kyphoscoliosis, Arthrogryposis multiplex congenita, Knee flexion contracture, ... |
OMIM:214150 |
Ck Syndrome |
|
Kyphoscoliosis, Slender build, Pachygyria, Hyperactivity, Polymicrogyria, Lumbar hyperlordosis |
ORPHA:251383 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Kyphosis, Ataxia, Hip dislocation, Waddling gait, Inability to walk, Broad-based gait, ... |
OMIM:616756 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... |
ORPHA:284332 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Impaired vibration sensation in the lower limbs, Tremor, Limb ataxia, G... |
OMIM:610245 |
Brachyolmia Type 1, Hobaek Type |
|
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... |
OMIM:271530 |
Mental Retardation, Autosomal Recessive 48 |
|
Kinetic tremor, Aggressive behavior, Self-mutilation, Inability to walk, Waddling gait |
OMIM:616269 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dementia, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal ... |
ORPHA:99750 |
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation |
|
Macroglossia, Kyphoscoliosis, Difficulty walking |
OMIM:227250 |
Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Myopathy, Scoliosis, Kyphosis |
OMIM:618234 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... |
OMIM:616948 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Respiratory insufficiency, Arthrogryposis multiplex congenita, Kyphosis, Incre... |
ORPHA:178148 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Genu varum, Irregular vertebral endplates, Platyspondyly, Genu va... |
OMIM:609223 |
Wild Type Abeta2M Amyloidosis |
|
Abnormal intervertebral disk morphology, Paresthesia, Macroglossia, Decreased nerve conduction ve... |
ORPHA:85446 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Kyphoscoliosis, Thoracolumbar kyphosis |
OMIM:236660 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Optic atrophy, Kyphoscoliosis, Polymicrogyria, Ankle clonus, Flexion contr... |
OMIM:614222 |
Dystonia 16 |
|
Postural tremor, Parkinsonism, Involuntary movements, Gait disturbance, Cognitive impairment, Bra... |
OMIM:612067 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Proximal amyotrophy, Respiratory insufficiency, Spinal deformities, Generalized amyotrophy, Facia... |
OMIM:615084 |
Allan-Herndon-Dudley Syndrome |
|
Dystonia, Failure to thrive in infancy, Limb hypertonia, Skeletal muscle atrophy, Small for gesta... |
ORPHA:59 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Dementia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, ... |
OMIM:300894 |
Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Abnormality of the shoulder girdle musculature, Quadriceps m... |
ORPHA:206546 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Kyphosis, Waddling gait, Delayed ossification of carpal bones, Decreas... |
OMIM:618392 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Dysmetria, Torticollis, Intention tremor, Ataxia, Incoordination, Difficulty walking |
OMIM:613908 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Failure to thrive, Cubitus valgus, Rimmed vacuoles, Kyphosis, ... |
OMIM:248800 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Knee flexion contracture, Camptodactyly, Short neck... |
OMIM:277720 |
Rahman Syndrome |
|
Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Spondyloepiphyseal Dysplasia Tarda |
|
Paresthesia, Knee osteoarthritis, Abnormal lumbar spine morphology, Premature osteoarthritis, Lim... |
ORPHA:93284 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Kyphoscoliosis |
OMIM:615541 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Dystonia, Kyphoscoliosis, Respiratory insufficiency |
OMIM:618230 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Cough, Respiratory distress, Left ventricular... |
ORPHA:86812 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Campt... |
OMIM:618393 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Upper limb dysmetria, Infertility, Limb muscle weakness, Spastic gait, Limb dysmetria, Impaired v... |
OMIM:614409 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... |
ORPHA:71517 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Paresthesia, Dysmetria, Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Abnormality of the c... |
ORPHA:48431 |
Typical Nemaline Myopathy |
|
Genu varum, Nocturnal hypoventilation, Gait disturbance, Respiratory insufficiency, Arthrogryposi... |
ORPHA:171436 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Abnormality of the curvature of the vertebral column, Genu varum, Laryngotracheomalacia, Small fo... |
ORPHA:93360 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia |
OMIM:213200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... |
OMIM:300423 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Flexion contracture of toe, Kyphoscoliosis, Arthrogryposis multiple... |
OMIM:610758 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Dystonia, Loss of ability to walk, Rigidity |
OMIM:615010 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... |
OMIM:600363 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98855 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
Urocanase Deficiency |
|
Tremor, Ataxia, Aggressive behavior |
OMIM:276880 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Bradykinesia, Tremor, ... |
OMIM:261640 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory insufficiency, Platyspondyly, Knee flexion contracture, Kyphosis, En... |
OMIM:313420 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Hyperactivity, Small for gestational age, Kyphosis |
ORPHA:85288 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Ataxia, Oculomotor apraxia, Hyperactivity... |
OMIM:612716 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
Flynn-Aird Syndrome |
|
Ataxia, Kyphoscoliosis |
OMIM:136300 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower limb spasticit... |
ORPHA:3077 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Cognitive impairment, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign |
OMIM:614947 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98853 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis |
OMIM:600384 |
Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Kyphoscoliosis, Platyspondyly, Waddling gait, Enlarged joints, Severe ... |
OMIM:184252 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... |
ORPHA:276435 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Babinski sign, Dementia, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesi... |
OMIM:606159 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia |
OMIM:618387 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process |
OMIM:612913 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Kyphosis |
OMIM:609384 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Gait disturbance, Dystonia, Upper limb hypertonia, Kyphosis, Impaired vibratory sensation, Lower ... |
OMIM:614898 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Babinski sign, Spastic gait, Cognitive impairment, Spasti... |
OMIM:616795 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Progressive cereb... |
ORPHA:284324 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Spinal deformities, Respirato... |
ORPHA:352447 |
Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia |
ORPHA:210128 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Cognitive impairment, Abnormality of extrapyramidal motor function, Tremor, Progressive... |
ORPHA:98773 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Long coccyx, Arthrogryposis multiplex congenita, Platyspondyly, Kyphos... |
OMIM:156530 |
Myopathy, Spheroid Body |
|
Tremor, Waddling gait, Broad-based gait |
OMIM:182920 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus, Difficulty walking |
OMIM:614018 |
Joubert Syndrome 18 |
|
Kyphoscoliosis, Camptodactyly |
OMIM:614815 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Myopathy, Dystonia, Failure to thrive, Kyphosis, Flexion contracture |
OMIM:618237 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Kearns-Sayre Syndrome |
|
Ataxia, Progressive intervertebral space narrowing, Ragged-red muscle fibers, Skeletal muscle atr... |
ORPHA:480 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Trem... |
OMIM:615157 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairment, Myoclo... |
ORPHA:79263 |
Dystonia, Juvenile-Onset |
|
Achalasia, Kyphoscoliosis, Generalized dystonia, Small for gestational age |
OMIM:607371 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Kyphoscoliosis, Joint contracture of the hand, Platyspondyly, Disl... |
OMIM:612350 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Abnormality of the knee, Irregular acetabular roof, Kyphosco... |
ORPHA:93316 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Frontal lobe dem... |
OMIM:607136 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp |
OMIM:608105 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... |
ORPHA:40 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy, Scoliosis, Kyphosis |
ORPHA:2598 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... |
ORPHA:2590 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Dysmetria, Kyphosis, Ataxia, Limb ataxia, Gait ataxia, Scoliosis |
OMIM:610743 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Optic atrophy, Kyphoscoliosis, Perisylvian polymicrogyria |
OMIM:600118 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Babinski sign, Gait disturbance, Lower limb spasticity, Impaired vibratory sensa... |
ORPHA:100988 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Impaired vibration sensation at ankles, Skeletal muscle atrophy, Kyphoscoliosis, Spastic gait, Ti... |
ORPHA:447760 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Congenital foot contractures, Scoliosis, Distal amyotrophy |
ORPHA:3454 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Babinski sign, Steppage gait, Distal sensory impairment, Tremor, Hypertonia, Spasticity, Mental d... |
OMIM:609260 |
Kufor-Rakeb Syndrome |
|
Babinski sign, Dementia, Gait disturbance, Dystonia, Rigidity, Torticollis, Aggressive behavior, ... |
OMIM:606693 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Dementia, Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty wa... |
OMIM:159950 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Kyphoscoliosis |
OMIM:614727 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysmetria, Cognitive impairment, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:615386 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Gait disturbance, Kyphoscoliosis, Back pain, Spastic ataxia, Cervical spondylosis, Somatic sensor... |
ORPHA:199354 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia |
OMIM:619028 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:619279 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Dystonia, Paroxysmal dystonia, Sudden episodic apnea, Scissor gait, Loss of ambulation, Kyphoscol... |
ORPHA:466722 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Tremo... |
OMIM:233910 |
Neuronal Intranuclear Inclusion Disease |
|
Gait disturbance, Dementia, Rigidity, Cognitive impairment, Tremor, Ataxia, Somatic sensory dysfu... |
OMIM:603472 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Distal arthrogryposis, Kyphoscoliosis, Arthrogryposis multiplex congenita,... |
OMIM:114300 |
Dentatorubral Pallidoluysian Atrophy |
|
Impaired proprioception, Involuntary movements, Dementia, Dyssynergia, Choreoathetosis, Dysmetria... |
ORPHA:101 |
Caribbean Parkinsonism |
|
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Frontal ... |
ORPHA:97355 |
Atypical Werner Syndrome |
|
Secondary amenorrhea, Chondrocalcinosis, Skeletal muscle atrophy, Failure to thrive, Intervertebr... |
ORPHA:79474 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Dementia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Parkinsonism, Spastic pa... |
ORPHA:329284 |
Coffin-Siris Syndrome 6 |
|
Attention deficit hyperactivity disorder, Kyphoscoliosis, Diaphragmatic eventration, Wormian bones |
OMIM:617808 |
Aneurysm-Osteoarthritis Syndrome |
|
Knee osteoarthritis, Intervertebral disc degeneration, Patent ductus arteriosus, Left ventricular... |
ORPHA:284984 |
Dopa-Responsive Dystonia |
|
Irritability, Panic attack, Anxiety, Oculogyric crisis, Lethargy, Gait disturbance, Poor coordina... |
ORPHA:255 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Dysmetria, Chorea, Torticollis, Spastic ataxia, Intention ... |
ORPHA:397946 |
Atypical Rett Syndrome |
|
Involuntary movements, Panic attack, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain se... |
ORPHA:3095 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Abnormal vertebral morphology, Kyphoscoliosis, Truncal ataxia, Hyperlo... |
OMIM:616817 |
Sandhoff Disease |
|
Failure to thrive, Ataxia, Kyphosis |
ORPHA:796 |
Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
Rett Syndrome |
|
Dystonia, Cachexia, Skeletal muscle atrophy, Apnea, Kyphosis, Truncal ataxia, Gait ataxia, Scolio... |
OMIM:312750 |
Congenital Fiber-Type Disproportion Myopathy |
|
Pelvic girdle muscle weakness, Hip contracture, Respiratory failure, Weakness of muscles of respi... |
ORPHA:2020 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... |
OMIM:607671 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia |
OMIM:616719 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Stridor, Respiratory insufficiency, Facial palsy, Kyphosis, Ataxia, Respiratory distress, Cranial... |
OMIM:211530 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Cervical subluxation, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Arthritis, Sh... |
OMIM:184100 |
Gerstmann-Straussler Disease |
|
Dementia, Rigidity, Aggressive behavior, Myoclonus, Bradykinesia, Tremor, Emotional lability, Tru... |
OMIM:137440 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dystonia, Cognitive impairment, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric ... |
OMIM:618049 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Dementia, Rigidity, Tremor, Abnormal pyramidal sign |
OMIM:260540 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis, Somatic sen... |
ORPHA:101077 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnorma... |
ORPHA:2635 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dementia, Anxiety, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem ga... |
OMIM:300623 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Acroparesthesia, Gait disturbance, Frequent falls, Loss of ambulation, Lower limb spa... |
ORPHA:206443 |
Spinocerebellar Ataxia 5 |
|
Dysmetria, Cognitive impairment, Intention tremor, Impaired vibratory sensation, Dysdiadochokines... |
OMIM:600224 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
Cdkl5-Deficiency Disorder |
|
Gait disturbance, Abnormal respiratory system physiology, Impaired pain sensation, Kyphosis, Scol... |
ORPHA:505652 |
Proteus Syndrome |
|
Kyphoscoliosis, Spinal canal stenosis |
OMIM:176920 |
Schwartz-Jampel Syndrome, Type 1 |
|
Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Skeletal muscle hypertrop... |
OMIM:255800 |
Spinocerebellar Ataxia 21 |
|
Postural tremor, Dystonia, Aggressive behavior, Cognitive impairment, Abnormality of extrapyramid... |
OMIM:607454 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Distal sensory impairment, Tremor, Ata... |
OMIM:208920 |
Arthrogryposis, Distal, Type 2A |
|
Shoulder flexion contracture, Abnormal auditory evoked potentials, Hip contracture, Flexion contr... |
OMIM:193700 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Clumsiness, Babinski sign, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... |
OMIM:609270 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Kyphosis, Ataxia, Flexion contracture, Dyspnea |
ORPHA:87876 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dystonia, Limb hypertonia, Chorea, Resting tremor, Anxiety |
OMIM:606703 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu varum, Abnormality of the k... |
ORPHA:1159 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Ataxia, Hypera... |
ORPHA:228360 |
Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking |
ORPHA:324588 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Progressive psychomotor deterioration, Poor motor coordination, Dysmetria, Cognitive impairment, ... |
ORPHA:1170 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Respiratory insufficiency, Congenital diaphragmatic hern... |
ORPHA:2311 |
Spinocerebellar Ataxia 27 |
|
Postural tremor, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head tremor, Limb ataxia, ... |
OMIM:609307 |
Loeys-Dietz Syndrome 3 |
|
Hip osteoarthritis, Pneumothorax, Knee osteoarthritis, Intervertebral disc degeneration, Craniosy... |
OMIM:613795 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Marked muscular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Kyphosis,... |
OMIM:300280 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
Scholte Syndrome |
|
Kyphoscoliosis, Patellar hypoplasia |
OMIM:300977 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Gait disturbance, Dystonia, Cognitive impairment, Shuffling gait, Tremor, Ataxia, Hypertonia, Dys... |
ORPHA:352649 |
Mental Retardation, Autosomal Dominant 26 |
|
Scoliosis, Arthrogryposis multiplex congenita, Small for gestational age, Kyphosis |
OMIM:615834 |
Flynn-Aird Syndrome |
|
Cachexia, Skeletal muscle atrophy, Impaired pain sensation, Kyphosis, Ataxia, Scoliosis |
ORPHA:2047 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... |
ORPHA:420485 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Perisylvian polymicrogyria, Kyphosis, Ataxia, Inability to walk, Unsteady gait, Obesity, Scoliosis |
OMIM:618443 |
Parkinson Disease 20, Early-Onset |
|
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Mental deterioration, P... |
OMIM:615530 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Babinski sign, Dementia, Loss of ambulation, Spastic gait, Spastic dysarthria, P... |
ORPHA:447757 |
Saccharopinuria |
|
Cognitive impairment, Tremor, Distal sensory impairment, Spastic diplegia, Mental deterioration, ... |
ORPHA:3124 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Dementia, Akinetic mutism, Chorea, Spastic hemiparesis, Myoclonus, Spa... |
ORPHA:282166 |
Patterson Pseudoleprechaunism Syndrome |
|
Ovoid thoracolumbar vertebrae, Cervical platyspondyly, Irregular acetabular roof, Kyphoscoliosis,... |
OMIM:169170 |
Emanuel Syndrome |
|
Infertility, Failure to thrive, Congenital diaphragmatic hernia, Kyphoscoliosis, Congenital hip d... |
ORPHA:96170 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Genu varum, Increased intervertebral... |
ORPHA:93314 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis |
OMIM:300915 |
Atelosteogenesis, Type Ii |
|
Flat acetabular roof, Increased intervertebral space, Coronal cleft vertebrae, Horizontal sacrum,... |
OMIM:256050 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Athetosis, Dystonia, Dystonic gait, Cognitive impairment, Abnormality of extrapyramidal motor fun... |
ORPHA:280219 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Hip dislocation, Scoliosis, Kyphosis |
OMIM:300434 |
Contractural Arachnodactyly, Congenital |
|
Distal arthrogryposis, Hip contracture, Congenital finger flexion contractures, Patellar subluxat... |
OMIM:121050 |
Mcdonough Syndrome |
|
Diastasis recti, Kyphoscoliosis |
OMIM:248950 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Panic attack, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dystonia... |
ORPHA:420492 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Kyphosis, Hyperactivity, Inability to... |
ORPHA:500180 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Social and occupatio... |
ORPHA:240071 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Kyphoscoliosis, Platyspondyly, Hip dislocation, Carpal synostosis, Advanced ossification of carpa... |
OMIM:615349 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia |
OMIM:617836 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Impaired distal proprioception, Loss of ambula... |
ORPHA:137898 |
Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... |
OMIM:617435 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Gait disturbance, Kyphosis, Ataxia, Prominent metopic ridge, Scoliosis |
ORPHA:85317 |
Ataxia With Vitamin E Deficiency |
|
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Mental det... |
ORPHA:96 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis |
OMIM:609541 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Dementia, Cognitive impairment, Myoclonus, Tremor, Ataxia, Blepharospasm |
OMIM:607876 |
Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... |
ORPHA:99 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture |
ORPHA:75496 |
Ane Syndrome |
|
Motor neuron atrophy, Kyphoscoliosis, Hypogonadotropic hypogonadism, Generalized amyotrophy, Mult... |
ORPHA:157954 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Abnormal acetabulum morphology, Intervertebral space narrowing, Lumba... |
ORPHA:166011 |
Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Waddling gait |
OMIM:617557 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral segmentation defec... |
OMIM:609813 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Facial palsy, Limited elbow extension, Camptodactyly, Dyspnea, Short neck, Elbow ... |
OMIM:272430 |
Waisman Syndrome |
|
Dementia, Shuffling gait, Bradykinesia, Cogwheel rigidity, Resting tremor, Parkinsonism |
OMIM:311510 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Kyphoscoliosis |
OMIM:122900 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
Seckel Syndrome 8 |
|
Kyphoscoliosis |
OMIM:615807 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking |
ORPHA:306669 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Hip dislocation, Kyphoscoliosis, Spastic gait, Waddling gait |
ORPHA:101003 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
Basilar Impression, Primary |
|
Short neck, Horner syndrome, Kyphoscoliosis, Limb muscle weakness |
OMIM:109500 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
Perry Syndrome |
|
Dementia, Apathy, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism |
ORPHA:178509 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Macroglossia, Simplified gyral pattern, Kyphosis, Hypogonadism, Distal lower limb amyotrophy, Hyp... |
OMIM:300354 |
Bruck Syndrome 1 |
|
Ankle flexion contracture, Hip contracture, Vertebral wedging, Platyspondyly, Knee flexion contra... |
OMIM:259450 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Herniation of intervertebral nuclei, Cervical spondylosis, Abnormality of peripheral nerve conduc... |
ORPHA:101005 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Kyphosis, Left... |
OMIM:619040 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Bradykinesia, Cogwheel rigidity, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
Congenital Contractural Arachnodactyly |
|
Slender build, Arthrogryposis multiplex congenita, Flexion contracture, Camptodactyly of finger, ... |
ORPHA:115 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia |
OMIM:618587 |
Anauxetic Dysplasia 2 |
|
Macroglossia, Cubitus valgus, Ovoid vertebral bodies, Cervical spine instability, Hyperlordosis, ... |
OMIM:617396 |
Masa Syndrome |
|
Shuffling gait, Hyperlordosis, Kyphosis |
OMIM:303350 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Arthrogryposis multiplex congenita, Kyphosis, Hypogonadism, Inabili... |
OMIM:615547 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Limb fasciculations, Distal sensory impairment, Tremor, Inability to walk, Somatic sensory dysfun... |
ORPHA:90117 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Failure to thrive in infancy, Cachexia, Gait disturbance, Dystonia, Respiratory in... |
ORPHA:702 |
Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscol... |
OMIM:231070 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Macroglossia, Spinal deformities, Kyphoscoliosis, Patent ductus arteriosus, Ataxia, Broad-based g... |
ORPHA:397709 |
Jaberi-Elahi Syndrome |
|
Optic atrophy, Dystonia, Choreoathetosis, Dysmetria, Failure to thrive, Kyphosis, Inability to wa... |
OMIM:617988 |
Ck Syndrome |
|
Slender build, Kyphosis, Pachygyria, Hyperactivity, Polymicrogyria, Hyperlordosis, Scoliosis |
OMIM:300831 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Gait disturbance, Scoliosis, Truncal obesity, Kyphosis |
ORPHA:2429 |
Autosomal Recessive Ataxia, Beauce Type |
|
Gait disturbance, Arm dystonia, Skeletal muscle atrophy, Dysmetria, Kyphosis, Ataxia, Impaired vi... |
ORPHA:88644 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Distal sens... |
OMIM:302800 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity |
OMIM:618718 |
Acrootoocular Syndrome |
|
Abnormality of facial musculature, Small for gestational age, Failure to thrive, Kyphoscoliosis, ... |
ORPHA:2980 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Cachexia, Kyphosis |
ORPHA:2471 |
Sneddon Syndrome |
|
Dementia, Chorea, Hemiparesis, Tremor, Mental deterioration, Memory impairment |
ORPHA:820 |
Bruck Syndrome |
|
Respiratory insufficiency, Platyspondyly, Wormian bones, Arthrogryposis multiplex congenita, Kyph... |
ORPHA:2771 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Arthrogryposis multiplex congenita, Joint contracture of the hand, Kyp... |
ORPHA:352490 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... |
OMIM:618877 |
Kniest Dysplasia |
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Gait disturbance, Hip contracture, Coronal cleft vertebrae, Platyspondyly, Hip dislocation, Respi... |
OMIM:156550 |
Monomelic Amyotrophy |
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Tremor, Fasciculations |
ORPHA:65684 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Kyphoscoliosis |
OMIM:300886 |
Wieacker-Wolff Syndrome |
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Dystonia, Neonatal respiratory distress, Apnea, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:314580 |
Epiphyseal Dysplasia, Multiple, 6 |
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Abnormality of the knee, Schmorl's node, Irregular vertebral endplates, Intervertebral disk calci... |
OMIM:614135 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Dystonia, Torticollis, Kyphoscoliosis, Optic nerve hypoplasia, Cubitus valgus, Simplified gyral p... |
ORPHA:300570 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... |
OMIM:614831 |
Familial Calcium Pyrophosphate Deposition |
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Abnormal intervertebral disk morphology, Chondrocalcinosis, Joint dislocation, Arthritis, Calcifi... |
ORPHA:1416 |
Arthrogryposis Multiplex Congenita 5 |
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Dystonia, Optic disc pallor, Neonatal respiratory distress, Kyphoscoliosis, Arthrogryposis multip... |
OMIM:618947 |
Perry Syndrome |
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Dystonia, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Short stepped shuffling gait... |
OMIM:168605 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Dementia, Rigidity, Progressive neurologic deterioration, Tremor, Hypertonia, Spasticity |
OMIM:176500 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Steppage gait, Inability to walk, Kyphoscoliosis, Contractures of the large joints |
ORPHA:324410 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
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Babinski sign, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
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Babinski sign, Gait disturbance, Dystonia, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... |
ORPHA:289560 |
Dystonia 7, Torsion |
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Clumsiness, Writer's cramp, Torticollis, Hand tremor, Oromandibular dystonia, Torsion dystonia, B... |
OMIM:602124 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
Dystonia 2, Torsion, Autosomal Recessive |
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Tremor, Blepharospasm, Torticollis, Torsion dystonia |
OMIM:224500 |
Spinocerebellar Ataxia 2 |
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Postural tremor, Dementia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Progress... |
OMIM:183090 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
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Kyphoscoliosis |
OMIM:600991 |
Classic Phenylketonuria |
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Self-injurious behavior, Paraplegia, Tremor, Hypertonia, Hemiplegia, Mental deterioration, Motor ... |
ORPHA:79254 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Hyperactivity, Kyphoscoliosis, Scoliosis, Premature ovarian insufficiency |
ORPHA:391307 |
Joint Laxity, Short Stature, And Myopia |
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Short neck, Restrictive ventilatory defect, Kyphoscoliosis |
OMIM:617662 |
X-Linked Intellectual Disability, Hedera Type |
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Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Extrapyramidal muscular rigidity, Ina... |
ORPHA:93952 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Dystonia, Kyphosis, Ataxia, Hip dislocation, Waddling gait, Unsteady gait, Obesity, Scoliosis, Di... |
ORPHA:464282 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal si |