| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Dementia, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty wal... |
ORPHA:85292 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
| X-Linked Complicated Spastic Paraplegia Type 1 |
|
Cognitive impairment, Ataxia, Upper motor neuron dysfunction, Spastic paraplegia, Mental deterior... |
ORPHA:306617 |
| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity |
OMIM:611105 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... |
ORPHA:79262 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Distal sensory impairment, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper motor neuron d... |
ORPHA:401901 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Mental deterioration |
OMIM:616187 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Dementia, Tremor by anatomical site, Cognitive i... |
ORPHA:98762 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... |
OMIM:615528 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Impaired vibration sensation at ankles, Rigidity, Spastic gait, Memory impairment |
ORPHA:401849 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity |
ORPHA:217012 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
| Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia |
ORPHA:94122 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cognitive impairment, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady g... |
OMIM:615768 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... |
OMIM:615362 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Mental deterioratio... |
OMIM:615924 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
| Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Dementia, Li... |
ORPHA:454887 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Spinocerebellar Ataxia Type 28 |
|
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Cognitive impairment, Spasticity, Head tremor,... |
ORPHA:101109 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Gait ataxia, Shyness |
OMIM:618221 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... |
ORPHA:98763 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor |
OMIM:300660 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Dementia, Abnormal pyramidal sign |
OMIM:301840 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
| Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity, Large for gestational age |
ORPHA:356996 |
| Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... |
OMIM:604326 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxi... |
OMIM:607346 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Unsteady gait, Truncal ataxia, Tremor |
OMIM:616127 |
| Spinocerebellar Ataxia 29 |
|
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... |
OMIM:117360 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Myocl... |
ORPHA:314632 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Dysmetria, Cognitive impairment, Tremor, Oculomotor apraxia, Dysdiado... |
OMIM:617145 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Babinski sign, Inability to walk, Spastic tetraplegia |
OMIM:616657 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
| Huntington Disease-Like 2 |
|
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Dystonia, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Mental deterioration, Parki... |
OMIM:618093 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Frontotemporal dementi... |
OMIM:612953 |
| Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... |
ORPHA:276193 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Juvenile Huntington Disease |
|
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive cerebella... |
ORPHA:248111 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Oromandibular dysto... |
ORPHA:216873 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Progressive neurologic deteriorat... |
OMIM:261640 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Dysmetria, Focal dystonia, Progressive cerebellar ataxia,... |
OMIM:605361 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
| Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... |
ORPHA:101108 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Dementia, Falls, Bradykinesia, Spastic tetraplegia, Distal sensory i... |
OMIM:617225 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... |
OMIM:610245 |
| 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 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia |
OMIM:612126 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Cognitive impairment, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal ... |
OMIM:614947 |
| Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... |
OMIM:616948 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:605909 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... |
ORPHA:423275 |
| Spinocerebellar Ataxia 35 |
|
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking |
OMIM:613908 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| 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 |
OMIM:261630 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
| Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia |
OMIM:213200 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Attention deficit hyperactivity disorder, Dif... |
OMIM:619191 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... |
ORPHA:284332 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Mental deterioration,... |
OMIM:618317 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Ataxia, Cognitive impairment, Truncal ataxia |
OMIM:617584 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Stereotypy |
OMIM:300271 |
| Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia, Gait ataxia, Diffic... |
ORPHA:98764 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Dentatorubral Pallidoluysian Atrophy |
|
Involuntary movements, Impaired proprioception, Dementia, Dyssynergia, Choreoathetosis, Dysmetria... |
ORPHA:101 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
| Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Writer's cramp, Tremor |
OMIM:159900 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... |
ORPHA:306692 |
| Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Childhood Disintegrative Disorder |
|
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... |
ORPHA:168782 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
| Dystonia 16 |
|
Postural tremor, Parkinsonism, Involuntary movements, Gait disturbance, Cognitive impairment, Bra... |
OMIM:612067 |
| Spinocerebellar Ataxia Type 21 |
|
Rigidity, Cognitive impairment, Abnormality of extrapyramidal motor function, Tremor, Progressive... |
ORPHA:98773 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dementia, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal ... |
ORPHA:99750 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Kufor-Rakeb Syndrome |
|
Babinski sign, Gait disturbance, Dystonia, Dementia, Rigidity, Torticollis, Myoclonus, Bradykines... |
OMIM:606693 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Babinski sign, Dystonia, Dementia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesi... |
OMIM:606159 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Cognitive impairment, Distal sensory impairment |
OMIM:616668 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairment, Myoclo... |
ORPHA:79263 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Dementia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor,... |
OMIM:300894 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spasticity |
OMIM:612716 |
| Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia |
ORPHA:210128 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... |
ORPHA:284324 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysmetria, Cognitive impairment, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:615386 |
| Spinocerebellar Ataxia 42 |
|
Babinski sign, Impaired vibration sensation at ankles, Spastic gait, Cognitive impairment, Spasti... |
OMIM:616795 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... |
ORPHA:453521 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus, Difficulty walking |
OMIM:614018 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Lethargy |
ORPHA:30925 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Dystonia, Loss of ability to walk, Rigidity |
OMIM:615010 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp |
OMIM:608105 |
| Smith-Magenis syndrome |
|
Hyperactivity, Stereotypy |
DECIPHER:8 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... |
OMIM:600363 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
| Spinocerebellar Ataxia 5 |
|
Dysmetria, Cognitive impairment, Intention tremor, Impaired vibratory sensation, Dysdiadochokines... |
OMIM:600224 |
| Gerstmann-Straussler Disease |
|
Dementia, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasti... |
OMIM:137440 |
| Caribbean Parkinsonism |
|
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Frontal ... |
ORPHA:97355 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... |
OMIM:300423 |
| Spinocerebellar Ataxia 17 |
|
Dystonia, Dementia, Rigidity, Dysmetria, Chorea, Myoclonus, Frontal lobe dementia, Bradykinesia, ... |
OMIM:607136 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Dysmetria, Cognitive impairment, Bradykinesia, Tremor, Ataxia, Dysdiadoc... |
OMIM:615157 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia |
OMIM:619028 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Tremor, Oculomotor apraxia, Ataxia, Di... |
OMIM:208920 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia |
OMIM:616719 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... |
ORPHA:352641 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... |
OMIM:618598 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Babinski sign, Clumsiness, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... |
OMIM:609270 |
| Neuronal Intranuclear Inclusion Disease |
|
Gait disturbance, Dementia, Rigidity, Cognitive impairment, Tremor, Ataxia, Somatic sensory dysfu... |
OMIM:603472 |
| Spinocerebellar Ataxia 27 |
|
Postural tremor, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head tremor, Limb ataxia, ... |
OMIM:609307 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... |
OMIM:607671 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Progressive psychomotor deterioration, Poor motor coordination, Dysmetria, Cognitive impairment, ... |
ORPHA:1170 |
| Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Suicidal ideation, Cognitive impairment, Lack o... |
ORPHA:96369 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... |
ORPHA:276435 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... |
ORPHA:397946 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia |
OMIM:617836 |
| Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Abnormal social behavior, Agoraphobia, Fatigable weakne... |
ORPHA:255 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Limb hypertonia, Rigidity, Small for gestational age, Cerebral palsy, Cognitive impairm... |
ORPHA:70594 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Babinski sign, Steppage gait, Tremor, Distal sensory impairment, Hypertonia, Spasticity, Mental d... |
OMIM:609260 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Dementia, Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty wa... |
OMIM:159950 |
| Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Cognitive impairment, Tetraplegia, Oculomotor apraxia, Ataxia |
OMIM:616267 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dystonia, Cognitive impairment, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric ... |
OMIM:618049 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... |
ORPHA:2590 |
| Myopathy, Spheroid Body |
|
Tremor, Waddling gait, Broad-based gait |
OMIM:182920 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Tremo... |
OMIM:233910 |
| Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
| Spinocerebellar Ataxia Type 29 |
|
Dysmetria, Cognitive impairment, Intention tremor, Oculomotor apraxia, Ataxia, Dysdiadochokinesis... |
ORPHA:208513 |
| Perry Syndrome |
|
Dementia, Weight loss, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism |
ORPHA:178509 |
| Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, Tremor, Ataxia, Hyperactivity, Dysdiadochok... |
ORPHA:228360 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait ataxia, Limb... |
ORPHA:71517 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Gait disturbance, Dystonia, Cognitive impairment, Shuffling gait, Tremor, Abnormality of coordina... |
ORPHA:352649 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Dementia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
| Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Stereotypy, Hyperactivity, Gait ataxia |
OMIM:609425 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... |
OMIM:301310 |
| Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dementia, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Resti... |
OMIM:300623 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
| Ataxia With Vitamin E Deficiency |
|
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Mental det... |
ORPHA:96 |
| Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination |
OMIM:309548 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
| Parkinson Disease 8, Autosomal Dominant |
|
Dementia, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication... |
OMIM:607060 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Failure to thrive, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Dementia, Cognitive impairment, Myoclonus, Tremor, Ataxia, Blepharospasm |
OMIM:607876 |
| Spinocerebellar Ataxia 21 |
|
Postural tremor, Dystonia, Cognitive impairment, Abnormality of extrapyramidal motor function, Co... |
OMIM:607454 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior, Falls |
ORPHA:2382 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Dementia, Rigidity, Tremor, Abnormal pyramidal sign |
OMIM:260540 |
| Pelizaeus-Merzbacher Disease |
|
Dystonia, Head titubation, Choreoathetosis, Failure to thrive, Cognitive impairment, Tremor, Atax... |
OMIM:312080 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Stereotypy |
OMIM:239500 |
| Fraxe Intellectual Disability |
|
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Hyperactivity |
ORPHA:100973 |
| Saccharopinuria |
|
Cognitive impairment, Tremor, Distal sensory impairment, Spastic diplegia, Mental deterioration, ... |
ORPHA:3124 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination |
OMIM:617182 |
| Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... |
ORPHA:276198 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Impaired distal proprioception, Loss of ambula... |
ORPHA:137898 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... |
OMIM:614306 |
| Spinocerebellar Ataxia 2 |
|
Postural tremor, Dementia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomot... |
OMIM:183090 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Tetraplegia, Hyperactivity, Hypertonia, Lethargy |
OMIM:274270 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Lower limb spa... |
ORPHA:206443 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis |
OMIM:604317 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia |
OMIM:618587 |
| X-Linked Intellectual Disability, Hedera Type |
|
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Extrapyramidal muscular rigidity, Ina... |
ORPHA:93952 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... |
OMIM:614831 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Poor motor coordination, Cognitive impairment, Myoclonus, ... |
ORPHA:363400 |
| Primary Dystonia, Dyt4 Type |
|
Involuntary movements, Gait disturbance, Dementia, Torticollis, Eunuchoid habitus, Laryngeal dyst... |
ORPHA:98805 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... |
ORPHA:420485 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign |
ORPHA:139485 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Ataxia, Decreased body weight, Dementia |
OMIM:278760 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... |
ORPHA:99 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Athetosis, Dystonia, Dystonic gait, Cognitive impairment, Abnormality of extrapyramidal motor fun... |
ORPHA:280219 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity, Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tremor, Broad-base... |
ORPHA:3077 |
| Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking |
ORPHA:324588 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Social and occupatio... |
ORPHA:240071 |
| Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Babinski sign, Dementia, Loss of ambulation, Spastic gait, Spastic dysarthria, P... |
ORPHA:447757 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Gait disturbance, Tremor, Inability to walk, Spastic paraparesis, Difficulty walking, Somatic sen... |
ORPHA:101077 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... |
ORPHA:3095 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... |
OMIM:617435 |
| Dystonia 7, Torsion |
|
Clumsiness, Writer's cramp, Torticollis, Hand tremor, Oromandibular dystonia, Torsion dystonia, B... |
OMIM:602124 |
| Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Writer's cramp, Tortic... |
ORPHA:98759 |
| Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Waddling gait |
OMIM:617557 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age |
ORPHA:85288 |
| Sneddon Syndrome |
|
Dementia, Chorea, Hemiparesis, Tremor, Mental deterioration, Memory impairment |
ORPHA:820 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking |
ORPHA:306669 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... |
OMIM:618877 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Babinski sign, Dementia, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysd... |
ORPHA:247234 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... |
OMIM:617384 |
| Parkinson Disease 20, Early-Onset |
|
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Mental deterioration, P... |
OMIM:615530 |
| Developmental And Epileptic Encephalopathy 68 |
|
Clonus, Failure to thrive, Myoclonus, Exaggerated startle response, Spasticity |
OMIM:618201 |
| Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity |
ORPHA:33445 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Spinocerebellar Ataxia 34 |
|
Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abnormal pyramidal sign... |
OMIM:133190 |
| 4H Leukodystrophy |
|
Dystonia, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Tremo... |
ORPHA:289494 |
| Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... |
ORPHA:98818 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Dis... |
OMIM:302800 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Limb hypertonia, Rigidity, Failure to thrive, Myoclonus, Tremor, Abnormali... |
ORPHA:442835 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Babinski sign, Dysmetria, Vestibular areflexia, Intention tremor, Progressive cerebellar ataxia, ... |
ORPHA:504476 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
| Crigler-Najjar Syndrome Type 1 |
|
Tremor, Memory impairment |
ORPHA:79234 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:619279 |
| Classic Phenylketonuria |
|
Paraplegia, Tremor, Hypertonia, Hemiplegia, Mental deterioration, Motor deterioration, Attention ... |
ORPHA:79254 |
| Trisomy X |
|
Tremor, Attention deficit hyperactivity disorder, Cognitive impairment |
ORPHA:3375 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Involuntary movements, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Ataxia, Re... |
ORPHA:401768 |
| Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis |
ORPHA:391417 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Dementia, Rigidity, Abnormal pyramidal sign, Resting tremor, Spasticity, Akinesia, Mental deterio... |
OMIM:616840 |
| Mohr-Tranebjaerg Syndrome |
|
Babinski sign, Dystonia, Dementia, Oromandibular dystonia, Shuffling gait, Focal dystonia, Tremor... |
ORPHA:52368 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Failure to thrive, Tremor, Ataxia, Hypertonia, Inability to walk, Attention deficit hyperactivity... |
OMIM:619556 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Poor eye contact |
ORPHA:444002 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Limb fasciculations, Tremor, Distal sensory impairment, Inability to walk, Somatic sensory dysfun... |
ORPHA:90117 |
| Waisman Syndrome |
|
Dementia, Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:311510 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Myoclonus, Intention tremor, Action tremor, Gait ataxia |
OMIM:254900 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor |
OMIM:610185 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Gait ataxia |
OMIM:617810 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Babinski sign, Dystonia, Choreoathetosis, Obesity, Spastic gait, Shuffling gait, Bradykinesia, Sp... |
OMIM:300055 |
| Neuroferritinopathy |
|
Involuntary movements, Babinski sign, Dystonia, Arm dystonia, Leg dystonia, Writer's cramp, Chore... |
ORPHA:157846 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... |
ORPHA:289560 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| Perry Syndrome |
|
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Fr... |
OMIM:168605 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Progressive neurologic deterioration, Increased body weight, Lethargy |
ORPHA:276608 |
| Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Dementia, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, ... |
ORPHA:282166 |
| Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
| Dystonia 24 |
|
Torticollis, Head tremor, Blepharospasm, Oromandibular dystonia |
OMIM:615034 |
| Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Dementia, Rigidity, Progressive neurologic deterioration, Tremor, Hypertonia, Spasticity |
OMIM:176500 |
| Gm2-Gangliosidosis, Ab Variant |
|
Paralysis, Dystonia, Dementia, Chorea, Exaggerated startle response, Spastic tetraparesis, Hypert... |
OMIM:272750 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... |
OMIM:610042 |
| Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Rigidity, Cognitive impairment, Falls, Bradykinesia, Tremor, Unsteady gait, B... |
ORPHA:683 |
| Central Diabetes Insipidus |
|
Polydipsia, Lethargy |
ORPHA:178029 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Abnormality of extrapyramidal motor f... |
ORPHA:500180 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Opisthotonus, Frequent falls, Weight loss, Cognitive impairment, Inability to w... |
ORPHA:216866 |
| Peroxisome Biogenesis Disorder 5B |
|
Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity |
OMIM:618718 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Chorea, Cognitive impairment, Exaggerated startle response, Progressive spastic quadrip... |
ORPHA:309246 |
| Glycine Encephalopathy |
|
Hyperactivity, Myoclonus, Lethargy |
OMIM:605899 |
| Jaberi-Elahi Syndrome |
|
Dystonia, Choreoathetosis, Dysmetria, Failure to thrive, Tremor, Inability to walk, Spasticity, G... |
OMIM:617988 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dystonia, Chorea, Resting tremor, Limb hypertonia |
OMIM:606703 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired tactile sensation, Gait ataxia |
OMIM:619092 |
| Morm Syndrome |
|
Hyperactivity, Truncal obesity |
ORPHA:75858 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Cognitive impairment, Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination |
ORPHA:36387 |
| Spinocerebellar Ataxia 8 |
|
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign |
OMIM:608768 |
| Parkinson Disease 1, Autosomal Dominant |
|
Gait disturbance, Dystonia, Dementia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting ... |
OMIM:168601 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Babinski sign, Dystonia, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... |
OMIM:610217 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Stereotypy |
OMIM:615541 |
| Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:102 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Failure to thrive, Hyperactivity, Tics, Hypertonia, Broad-based gait, Unsteady gait |
OMIM:617865 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Tremor, Inability to walk, Oculogyric crisis, Difficulty walking |
ORPHA:330050 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Dystonia, Mental deterioration, Spasticity |
OMIM:304700 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Babinski sign, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... |
OMIM:607483 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormality of extrapy... |
ORPHA:382 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Primary Progressive Freezing Gait |
|
Postural tremor, Babinski sign, Clonus, Dementia, Gait imbalance, Rigidity, Frequent falls, Shuff... |
ORPHA:75567 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Ataxia, Abnormal social behavior, Memory impairment |
ORPHA:1020 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dystonia, Craniofacial... |
ORPHA:420492 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Gait disturbance, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic... |
OMIM:616586 |
| Parkinson Disease, Late-Onset |
|
Dystonia, Dementia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait,... |
OMIM:168600 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Babinski sign, Gait disturbance, Dystonia, Dementia, Oromandibular dystonia, Abnormality of extra... |
OMIM:614298 |
| Developmental And Epileptic Encephalopathy 42 |
|
Athetosis, Ataxia, Hypertonia, Tremor |
OMIM:617106 |
| Ataxia-Telangiectasia |
|
Gait disturbance, Failure to thrive, Cognitive impairment, Tremor, Ataxia, Spasticity |
ORPHA:100 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... |
OMIM:613280 |
| Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... |
ORPHA:1929 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Aggressive behavior, Abnormal social behavior |
ORPHA:101039 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Ataxia, Failure to thrive, Lethargy |
OMIM:201100 |
| Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity |
OMIM:618362 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Aggressive behavior |
OMIM:618010 |
| Optic Atrophy 11 |
|
Dysmetria, Ataxia, Hyperactivity, Hyperkinetic movements |
OMIM:617302 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity |
ORPHA:88616 |
| Aceruloplasminemia |
|
Involuntary movements, Dystonia, Rigidity, Torticollis, Chorea, Cognitive impairment, Tremor, Ata... |
ORPHA:48818 |
| X-Linked Adrenoleukodystrophy |
|
Clumsiness, Paralysis, Gait disturbance, Dementia, Cognitive impairment, Paraparesis, Progressive... |
ORPHA:43 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactiv... |
ORPHA:352490 |
| Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:227510 |
| Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dementia, Rigidity, Frequent falls, Weight loss, Shuffling gait, Bradykinesia, Parkinso... |
ORPHA:411602 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Dysmetria, Steppage gait, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia,... |
OMIM:616505 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
| Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Stereotypy, Ataxia, Hy... |
OMIM:614104 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, Recurrent han... |
ORPHA:544254 |
| Pyruvate Dehydrogenase Deficiency |
|
Gait disturbance, Dystonia, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal... |
ORPHA:765 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Gait disturbance, Frequent falls, Choreoathetosis, Steppage gait, Positive Romberg sign, Tremor, ... |
ORPHA:206594 |
| Developmental And Epileptic Encephalopathy 8 |
|
Hypertonia, Exaggerated startle response |
OMIM:300607 |
| Sneddon Syndrome |
|
Tremor, Mental deterioration, Hemiplegia |
OMIM:182410 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Gait ataxia, Difficulty walking |
ORPHA:529665 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Impaired proprioception, Abnormal pyramidal sign, Gait disturbance, Clonus, Dementia, Dysmetria, ... |
ORPHA:99027 |
| Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:98933 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... |
OMIM:608643 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Gait disturbance, Hypertonia, Progressive neurologic deterioration |
ORPHA:1192 |
| Young-Onset Parkinson Disease |
|
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... |
ORPHA:2828 |
| Hyperekplexia 3 |
|
Hypertonia, Exaggerated startle response |
OMIM:614618 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Obesity, Broad-based gait |
ORPHA:411515 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor |
OMIM:615578 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... |
ORPHA:139396 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Tremor, Hypertonia, Torsion dystonia, Blepharospasm |
OMIM:128100 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Aggressive behavior, Self-mutilation, Poor eye contact, Hyperactivity, Ataxia, Low ... |
ORPHA:163681 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Gait disturbance, Dystonia, Dementia, Rigidity, Choreoathetosis, Eyelid apraxia, Ab... |
OMIM:234200 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Tremor, Ataxia, Dystonia, Choreoathetosis |
OMIM:619422 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Bardet-Biedl Syndrome 17 |
|
Cognitive impairment, Anosmia, Hyposmia, Polydipsia |
OMIM:615994 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Incoordination, Abnormal pyramidal sign |
OMIM:618060 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gait disturbance, Small for gestational age, Increased body mass index, Truncal obesity, Tremor, ... |
OMIM:300957 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Decreased body weight |
OMIM:618342 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Cachexia, Chorea, Ataxia, Hypertonia, Hyperactivity |
ORPHA:52503 |
| Riboflavin Transporter Deficiency |
|
Tremor, Ataxia, Cachexia, Myoclonus |
ORPHA:97229 |
| Myopathy With Extrapyramidal Signs |
|
Clumsiness, Dystonia, Clonus, Frequent falls, Choreoathetosis, Chorea, Abnormality of extrapyrami... |
OMIM:615673 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Impaired pain sensation, Fasciculations, Impaired tandem gait, Tr... |
OMIM:619574 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety |
OMIM:616977 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Dementia, Cognitive impairment, Myoclonus, Spastic tetraplegia, Spastic ataxia, Ataxia, Progressi... |
OMIM:616640 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Babinski sign, Dystonia, Gait imbalance, Choreoathetosis, Oculomotor apraxia, At... |
ORPHA:64753 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Babinski sign, Dementia, Spastic gait, Abnormality of pain sensation, Spastic dysarthria, Falls, ... |
ORPHA:447753 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Hypertonia, Exaggerated startle response, Dementia |
OMIM:272800 |
| Gand Syndrome |
|
Hyperactivity, Tics |
OMIM:615074 |
| Tay-Sachs Disease |
|
Clumsiness, Progressive spasticity, Gait disturbance, Dystonia, Frequent falls, Dysmetria, Myoclo... |
ORPHA:845 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Impaired vibr... |
OMIM:609727 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Dystonia, Hypertonia |
OMIM:617248 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Dementia, Frequent falls, Progressive neurologic deterioration, Fasciculations, Tremor, Parkinson... |
ORPHA:329478 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Abnormality of extrapyramidal motor function, Exaggerated startle response, Impaired vibration se... |
ORPHA:320406 |
| Hyperekplexia 2 |
|
Hypertonia, Myoclonus, Exaggerated startle response |
OMIM:614619 |
| East Syndrome |
|
Polydipsia, Salt craving, Ataxia, Inability to walk, Difficulty walking |
ORPHA:199343 |
| Adult-Onset Dystonia-Parkinsonism |
|
Clumsiness, Dystonia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myo... |
ORPHA:199351 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia |
OMIM:304900 |
| Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Babinski sign, Spasticity |
OMIM:617773 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... |
ORPHA:168491 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Dystonia, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional lability, Abn... |
ORPHA:309263 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity, Spasticity |
OMIM:615286 |
| Metachromatic Leukodystrophy, Adult Form |
|
Progressive psychomotor deterioration, Dementia, Dystonia, Progressive gait ataxia, Emotional lab... |
ORPHA:309271 |
| Infantile Neuroaxonal Dystrophy |
|
Progressive spasticity, Gait disturbance, Dystonia, Psychomotor deterioration, Spastic tetrapares... |
ORPHA:35069 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Babinski sign, Gait disturbance, Dystonia, Chorea, Bradykinesia, Resting tremor, Hemiplegia, Park... |
ORPHA:225147 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Impaired proprioception, Dystonia, Impaired distal tactile sensation, Chorea, Progressive gait at... |
OMIM:606002 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Dementia, Paraplegia, Hemiparesis, Tremor, Ataxia, Spasticity |
OMIM:105210 |
| Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia |
OMIM:619473 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Stereotypy, Tremor, Hyperkinetic movements, Overweight |
ORPHA:457240 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Falls, Exaggerated startle response, Rigidity |
ORPHA:3198 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Broad-based gait, Obe... |
ORPHA:98794 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Babinski sign, Gait disturbance, Tremor, Tip-toe gait, Spastic paraplegia |
ORPHA:83629 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Tetraplegia, Abnormal pyramidal sign, Hyperactivity, Failure to thrive |
ORPHA:369939 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Tremor, Decreased body mass index, Attention deficit hyperactivity disorder, Failure to thrive |
ORPHA:370079 |
| Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Frontolimbic dementia, Falls, Bradykine... |
OMIM:601104 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Chorea, Myoclonus, Lower limb spasticity, Progressive cerebellar ataxia, H... |
ORPHA:485350 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618504 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Tremor, Dystonia, Spastic diplegia, Obesity |
ORPHA:480907 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Hyperkinetic movements |
OMIM:271980 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
| Hyperekplexia-Epilepsy Syndrome |
|
Hypertonia, Exaggerated startle response |
ORPHA:163985 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Decreased body weight, Broad-based gait, Spasticity |
OMIM:300958 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Recurrent hand flapping |
OMIM:615516 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor, Weight loss, Small for gestational age |
ORPHA:424 |
| Myopathy, Mitochondrial, And Ataxia |
|
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Distal sensory impairment, Trun... |
OMIM:617675 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Hyperactivity, Irritabil... |
ORPHA:449291 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Shyness, Waddling gait, Difficulty walking |
ORPHA:280763 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Hyperactivity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... |
ORPHA:1942 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity |
OMIM:617752 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Athetosis, Dystonia, Dementia, Poor motor coordination, Rigidity, Chorea, Cognitive impairment, T... |
ORPHA:25 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia |
OMIM:618056 |
| Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Truncal obesity |
OMIM:613192 |
| Insulinoma |
|
Lethargy, Paresthesia, Abnormality of pain sensation, Tremor, Increased body weight, Transient gl... |
ORPHA:97279 |
| Typhoid |
|
Tremor, Ataxia, Hypertonia, Lethargy |
ORPHA:99745 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Spasticity |
ORPHA:457260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Hyperactivity, Gait ataxia, Abdominal obesity |
OMIM:300354 |
| Multiple System Atrophy 1, Susceptibility To |
|
Babinski sign, Rigidity, Cognitive impairment, Bradykinesia, Tremor, Ataxia, Parkinsonism |
OMIM:146500 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619467 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:220111 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Sandhoff Disease |
|
Progressive psychomotor deterioration, Impaired temperature sensation, Exaggerated startle respon... |
OMIM:268800 |
| Sialidosis Type 2 |
|
Tremor, Ataxia |
ORPHA:87876 |
| Hyperekplexia 1 |
|
Hypertonia, Myoclonus, Exaggerated startle response, Frequent falls |
OMIM:149400 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Ataxia, Mental deterioration, Memory impairment |
ORPHA:79095 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
| Tonne-Kalscheuer Syndrome |
|
Shyness, Self-injurious behavior, Aggressive behavior, Broad-based gait, Anxiety |
OMIM:300978 |
| Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Cognitive impairment, Ataxia |
OMIM:601853 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Obesity |
OMIM:301013 |
| Ddost-Cdg |
|
Tremor, Oromotor apraxia, Failure to thrive |
ORPHA:300536 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor, Weight loss |
ORPHA:99819 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss |
OMIM:275000 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Upper motor neuron dysfunction, Stereotypy |
ORPHA:530983 |
| Amish Nemaline Myopathy |
|
Tremor |
ORPHA:98902 |
| Brain-Lung-Thyroid Syndrome |
|
Clumsiness, Involuntary movements, Dystonia, Choreoathetosis, Failure to thrive, Chorea, Myoclonu... |
ORPHA:209905 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Dementia, Spasticity, Intention tremor |
OMIM:117300 |
| Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
| Cystinosis |
|
Gait disturbance, Polydipsia |
ORPHA:213 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Ataxia, Hypertonia, Hyperactivity, Spasticity, Abnormal central motor function, S... |
ORPHA:760 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
| Angelman Syndrome |
|
Clumsiness, Limb tremor, Progressive gait ataxia, Hyperactivity, Broad-based gait, Obesity |
OMIM:105830 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Babinski sign, Ataxia, Resting tremor, Spasticity, Head tremor, Mental deterioration, Memory impa... |
ORPHA:314404 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Progressive neurologic deterioration, Large for gestational age, Tremor, Increased body weight, L... |
ORPHA:263455 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Dysmetria, Aggressive behavior, Ataxia, Nonprogressive cerebellar ataxia, Unsteady gait, Abnormal... |
ORPHA:314647 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Salt craving, Dysdiadochokinesis, Ataxia, Polydipsia |
OMIM:612780 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
