Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Somatic sensory dysfunction, Hand tremor, Steppage gait |
OMIM:300905 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Depression, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Inappropriate behavior, T... |
ORPHA:401901 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Depression, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tr... |
OMIM:619491 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Impulsivity, Irritability, Emotional lability, Depression, Ab... |
ORPHA:216873 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... |
ORPHA:280397 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Depression, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality of extrapyr... |
OMIM:615362 |
Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Dystonia... |
OMIM:606438 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor |
ORPHA:85292 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor |
OMIM:141500 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Depression, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia |
ORPHA:94122 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... |
OMIM:604326 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Depression, Cachexia, Babinski sign, Parkinsonism, Anxiety, Chorea, Tremor, Ga... |
OMIM:618093 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Irritability, Hypocalcemic seizures |
OMIM:146200 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia, Irritability |
OMIM:239350 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... |
OMIM:128235 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Autosomal Spastic Paraplegia Type 72 |
|
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity |
ORPHA:401849 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Chorea,... |
ORPHA:66624 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic ... |
ORPHA:251282 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Fasciculations, Distal sensory impairment |
OMIM:615048 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... |
ORPHA:363710 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Myoclonus, Anxiety, Difficulty walking, Attention deficit hyperact... |
OMIM:619191 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics |
OMIM:615483 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia |
OMIM:300660 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Craniofacial dyston... |
ORPHA:71517 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Depression, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Writ... |
ORPHA:36899 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dyst... |
OMIM:615924 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Unsteady gait, Self-biting |
OMIM:619988 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Depression, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait... |
ORPHA:101109 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Aggressive behavior, Oculomotor aprax... |
OMIM:612716 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Gait disturbance, Tremor, Kinetic tremor |
OMIM:611808 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordination |
OMIM:603218 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Depression, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Ch... |
OMIM:213600 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... |
ORPHA:3077 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor... |
OMIM:261640 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... |
OMIM:270500 |
Corticobasal Syndrome |
|
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity, Small for gestational age |
OMIM:278780 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Impulsivity, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Depression,... |
ORPHA:248111 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Depression, Myoclo... |
ORPHA:314632 |
Urocanase Deficiency |
|
Tremor, Ataxia, Aggressive behavior |
OMIM:276880 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... |
ORPHA:306692 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Hand tremor, Depression, Truncal ataxia, Gait disturbance, Tremor, Difficu... |
ORPHA:98764 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Anxiety, Tremor, Dystonia |
OMIM:619651 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... |
ORPHA:98763 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity |
OMIM:210000 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia, Irritability |
OMIM:261630 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... |
OMIM:600363 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... |
OMIM:619725 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Aggressive behavior, Torsion dystonia, Pa... |
ORPHA:98811 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... |
OMIM:619738 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Brunner Syndrome |
|
Self-injurious behavior, Impulsivity, Kinetic tremor, Aggressive behavior, Low frustration tolerance |
OMIM:300615 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity, Tremor, Aggressive behavior, Spasticity |
OMIM:300983 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Action tremor, Poor coordination, Anxiety, Attention deficit hyperactiv... |
OMIM:617665 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Anxiety, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia |
OMIM:614860 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait |
OMIM:618387 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Depression, Dysdiadochokinesis, Babinski si... |
OMIM:615157 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... |
ORPHA:276435 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis |
OMIM:619470 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Abnormal neuron morph... |
ORPHA:412066 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity |
OMIM:616494 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity |
OMIM:614947 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Spinocerebellar Ataxia 42 |
|
Ataxia, Impaired vibration sensation at ankles, Depression, Babinski sign, Abnormal pyramidal sig... |
OMIM:616795 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Hyperactivity, Self-injurious behavior, Abnormality of extrapyramidal motor function, Cho... |
ORPHA:382 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Inappropriate crying, Hand apraxia, Pill-rolling tremor, P... |
ORPHA:3095 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Babinski sign, Gait disturbance, Spastic paraplegia, Postural tremo... |
ORPHA:100988 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Huntington Disease |
|
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Weight loss, Depres... |
ORPHA:399 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Depression, Anxiety, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradykinesia, Depression... |
ORPHA:240085 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101078 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Limb dystonia, P... |
ORPHA:210571 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... |
ORPHA:352641 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Anxiety, Chorea, Choreoathetosis, Involuntary movemen... |
OMIM:606703 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Depression, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor,... |
OMIM:137440 |
Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination |
OMIM:130950 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
Perry Syndrome |
|
Akinesia, Apathy, Bradykinesia, Depression, Anxiety, Rigidity, Parkinsonism, Inappropriate behavi... |
OMIM:168605 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Irritability |
OMIM:612126 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking |
OMIM:614018 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... |
OMIM:609270 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... |
OMIM:164500 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Inability to walk, Abnormality of extrapyramidal motor function, Tremor, Difficulty ... |
ORPHA:255 |
Spinocerebellar ataxia 27 |
|
Ataxia, Limb ataxia, Impaired vibratory sensation, Depression, Head tremor, Truncal ataxia, Gait ... |
OMIM:609307 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
Cln5 Disease |
|
Ataxia, Inability to walk, Hyperactivity, Poor gross motor coordination, Dysmetria, Clumsiness, D... |
ORPHA:228360 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment |
OMIM:612462 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Tip-toe gait, Dysmetria, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Intention tremor, Depression, Hemiparesis, Tremor, Spasticity |
OMIM:614307 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... |
ORPHA:101077 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Loss of ambulation, Ataxia, Upper motor neuron dysfunction, Clumsiness, Spastic parap... |
ORPHA:206443 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Akinesia, Ataxia, Parkinsonism with favorable response to dopaminergic m... |
OMIM:606693 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... |
OMIM:618049 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, Hyperactivity, Self-injurious behavior, Tremor, Spasticity, ... |
OMIM:618718 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... |
OMIM:300623 |
X-Linked Dystonia-Parkinsonism |
|
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... |
ORPHA:53351 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment |
OMIM:103580 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Ataxia, Inappropriate crying, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Ab... |
ORPHA:352649 |
Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Ataxia, Tremor, Athetosis |
OMIM:617106 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation |
ORPHA:99014 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Abnormal pyramidal sign, An... |
ORPHA:309246 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... |
ORPHA:282166 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia, Irritability |
OMIM:233910 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Babinski sign, Distal sensory impairment, Tremor, Spasticity, Steppage gait |
OMIM:609260 |
Perry Syndrome |
|
Apathy, Depression, Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Distal sensory impairment, Tremor, Somatic sensory dysfun... |
ORPHA:90117 |
Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor |
OMIM:606658 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Clumsiness, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... |
ORPHA:2590 |
Spinocerebellar Ataxia 21 |
|
Akinesia, Ataxia, Progressive cerebellar ataxia, Apathy, Limb ataxia, Impulsivity, Intention trem... |
OMIM:607454 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Waddling gait |
OMIM:182920 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia |
OMIM:612438 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Action tremor, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Gai... |
ORPHA:93952 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... |
OMIM:300055 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia |
ORPHA:139485 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Difficulty walking, Myoclonus |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior |
OMIM:619970 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... |
ORPHA:3198 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Distal sensory impairment |
OMIM:616668 |
Trisomy X |
|
Depression, Tremor, Anxiety, Attention deficit hyperactivity disorder |
ORPHA:3375 |
Manganese Poisoning |
|
Hypertonia, Akinesia, Bradykinesia, Impairment in personality functioning, Depression, Abnormalit... |
ORPHA:306682 |
Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... |
OMIM:614831 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Oromandibular dystonia, Loss of ambulation, Ataxia, Impulsivity, Depression, Babinski sign, Parki... |
OMIM:614298 |
Glycine Encephalopathy |
|
Hyperglycinemia, Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Depression, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia |
ORPHA:306669 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Multiple System Atrophy, Parkinsonian Type |
|
Apathy, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Depression, ... |
ORPHA:98933 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Upper limb postural tremor, Gait ataxia, Distal sensory impairment |
OMIM:180800 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Dysmetria, Limb ataxia, Hand tremor, Intention tremor, Babinski sign, Truncal ataxia, Hea... |
ORPHA:276198 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking |
ORPHA:477673 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait disturbance, Fa... |
OMIM:604484 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Apathy, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxi... |
ORPHA:227510 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
Spinocerebellar Ataxia Type 10 |
|
Gait imbalance, Apathy, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Depression, D... |
ORPHA:98761 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait |
OMIM:619405 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity |
ORPHA:33445 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Degeneration of anterior horn cells, Tongue fasciculations, Frequent falls, Tremor, Di... |
OMIM:159950 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Hypertonia, Ataxia, Inability to walk, Failure to thrive, Tremor, Attention deficit hyperactivity... |
OMIM:619556 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Ataxia, Impulsivity, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficulty ... |
ORPHA:442835 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations, Degeneration of anterior horn cells |
ORPHA:65684 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis |
ORPHA:391417 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Tip-toe gait, Dysmetria, Hand tremor, Babinski sign, Distal sensory impairment, Gait... |
OMIM:302800 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, A... |
OMIM:261600 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia |
OMIM:617810 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Failure to thrive, Ataxia, Inability to walk, Apathy, Intention tremor, Depress... |
OMIM:312080 |
Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Waddling gait |
OMIM:617557 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Rigidity, Gait disturbance, Tremor, Somatic sensory dysfunction |
OMIM:603472 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor |
OMIM:254900 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... |
OMIM:618877 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Axial dystonia, Myoclonus, Panic attack, Head tremor, Craniofacial dystonia, Writer'... |
ORPHA:420492 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... |
ORPHA:137898 |
Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... |
ORPHA:97355 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration, Cognitive impairment |
OMIM:300555 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Loss of ambulation, Ataxia, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremo... |
OMIM:208920 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Dentatorubral Pallidoluysian Atrophy |
|
Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Action tremor, Limb a... |
ORPHA:101 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Tremor, Dysdiadochokinesis, Truncal ataxia, Dysmetria |
OMIM:610185 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Inability to walk, Clumsiness, Lower limb hypertonia, Tip-toe gait, Opist... |
OMIM:617013 |
Parkinson Disease 14, Autosomal Recessive |
|
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Depres... |
OMIM:612953 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... |
ORPHA:96 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Anxiety, Hyperphosphatemia, Emotional lability |
ORPHA:428 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Inability to walk, Truncal titubation, Action tremor, Opisthotonus, Babi... |
OMIM:607483 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia, Cognitive impairment |
ORPHA:457059 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Impai... |
OMIM:183090 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Oculogy... |
OMIM:608643 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia |
OMIM:614867 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Ataxia, Abnormal pyramidal sign, Incoordination, Borderline personality disorder, Tremor, Oculomo... |
OMIM:618060 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Bradykinesia, Poor fine motor coordination, Anxiety, Tremor, Incoordination |
ORPHA:36387 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Depression, Anxiety, Hyperkinetic movements, Increased body mass index... |
OMIM:300957 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait, Clumsiness, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Pos... |
OMIM:619911 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anxiety, Hypern... |
ORPHA:94093 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination |
OMIM:608768 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia |
ORPHA:1170 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation |
OMIM:619092 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Athet... |
ORPHA:280219 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Depression, Ba... |
OMIM:128100 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait disturbance,... |
ORPHA:457240 |
Postencephalitic Parkinsonism |
|
Happy demeanor, Akinesia, Bradykinesia, Resting tremor, Depression, Tremor by anatomical site, Oc... |
ORPHA:97349 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting |
OMIM:618314 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spa... |
ORPHA:363400 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Aggressive behavior, Dystonia |
ORPHA:329284 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Self-mutilation, Tremor, Choreoathetosis, Dystonia |
OMIM:619422 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior |
OMIM:309548 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalc... |
ORPHA:79444 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Loss of ambulation, Ataxia, Dysmetria, Babinski sign, Tremor, Spasticity, Postural tremor, Dystonia |
OMIM:607694 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Positive Romberg sign, Distal sensory impairment, Gait disturbance, Tremor, Difficulty walking, C... |
ORPHA:206594 |
Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Apathy, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spa... |
OMIM:272750 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Akinesia, Progressive extrapyramidal muscular rigidity, Parkinsonism with favorab... |
ORPHA:240071 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Myoclonus, Tremor, Aggressive behavior |
ORPHA:97229 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Ataxia, Bradykinesia, Impaired vibration sensation in the lower limbs, Depression, B... |
ORPHA:98808 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Incoordination, Gait ataxia, Aggressive behavior |
OMIM:618808 |
Classic Phenylketonuria |
|
Hemiplegia, Hypertonia, Self-injurious behavior, Depression, Tremor, Paraplegia, Attention defici... |
ORPHA:79254 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Polyminimyoclonus, Tremor, Impaired distal vibration sensation, Vocal cord paresis, Impaired pain... |
OMIM:619574 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
4H Leukodystrophy |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dystonia, Upper motor neu... |
ORPHA:289494 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia |
ORPHA:330050 |
Proximal 16P11.2 Microduplication Syndrome |
|
Failure to thrive, Anxiety, Decreased body mass index, Tremor, Attention deficit hyperactivity di... |
ORPHA:370079 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking... |
ORPHA:320406 |
Neuroferritinopathy |
|
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Emotional lability, Babinski sign, Par... |
ORPHA:157846 |
Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response, Myoclonus, Spasticity, Clonus |
OMIM:618201 |
Multiple System Atrophy |
|
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Autonomic erectile d... |
ORPHA:102 |
Saccharopinuria |
|
Spastic diplegia, Gait ataxia, Distal sensory impairment, Tremor |
ORPHA:3124 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Inappropr... |
ORPHA:225147 |
Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Hyperactivity, Recurrent hand flapping,... |
ORPHA:98794 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Myoclonus, Anxiety, Dystonia |
OMIM:616398 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Abnormality of pain... |
ORPHA:544254 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, Nail-biting, Attention de... |
OMIM:619827 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Distal sensory impairm... |
OMIM:616505 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Linear Verrucous Nevus Syndrome |
|
Mental deterioration, Hypophosphatemia |
ORPHA:2611 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalc... |
ORPHA:79443 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral p... |
ORPHA:70594 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Dysmetria, Tremor, Difficulty walking, Gait ataxia, Spasticity, Oculomotor apraxia |
ORPHA:529665 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Decreased body weight, Hyperactivity, Tremor, Attention deficit hyperactivity d... |
OMIM:618342 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety, Trunc... |
OMIM:617675 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Hyperactivity, Bradykinesia, Dysmetria, Impulsivity, Intention tremor, Dysdiadochokin... |
OMIM:610217 |
Spinocerebellar Ataxia Type 42 |
|
Impaired vibration sensation at ankles, Resting tremor, Depression, Babinski sign, Head tremor, U... |
ORPHA:458803 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Pseudobulbar paralysis, Babinski sign, Gait disturbance, Tremor, Spastic paraplegia, Spasticity, ... |
OMIM:616586 |
Mohr-Tranebjaerg Syndrome |
|
Oromandibular dystonia, Inability to walk, Ankle clonus, Babinski sign, Abnormal pyramidal sign, ... |
ORPHA:52368 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Hyperactivity, Tremor, Gait ataxia, Aggressive behavior, Emotional lability |
OMIM:300354 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Akinesia, Ataxia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... |
ORPHA:247234 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617113 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Abnormal pyramidal sign, Tremor, Attenti... |
ORPHA:1942 |
Tay-Sachs Disease |
|
Inability to walk, Clumsiness, Laryngeal dystonia, Dysmetria, Exaggerated startle response, Poor ... |
ORPHA:845 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Self-injurious behavior, Anxiety, Elevated circulating gamma-aminobutyric acid con... |
OMIM:271980 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Bradykinesia, Impulsivity, Depression, Rigidity, Falls, Tremor, Unsteady gait, Dys... |
ORPHA:683 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Apathy, ... |
ORPHA:411602 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Akinesia, Ataxia, Hyperactivity, Blepharospasm, Bradykinesia, Depression, Babinski sign, Abnormal... |
OMIM:234200 |
Young-Onset Parkinson Disease |
|
Gait imbalance, Apathy, Bradykinesia, Impulsivity, Depression, Anxiety, Rigidity, Panic attack, T... |
ORPHA:2828 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Ataxia, Babinski sign, Abnormal pyramidal sign, Head tremor, Somatic sensory dysf... |
ORPHA:64753 |
Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Attention defic... |
ORPHA:98818 |
Parkinson Disease, Late-Onset |
|
Bradykinesia, Resting tremor, Depression, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped... |
OMIM:168600 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clumsiness, Hyperactivity, Chorea, Frequent falls, Tremor, Difficulty walking, Choreoathe... |
OMIM:615673 |
Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Gait disturbance, Tremor, Spasticity |
ORPHA:100 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast... |
ORPHA:765 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Hypoesthesia, Impaired vibratory sensation, Hypergonadotropic hypogonadism, Primary a... |
OMIM:619737 |
Aceruloplasminemia |
|
Torticollis, Akinesia, Ataxia, Blepharospasm, Apathy, Limb ataxia, Parkinsonism, Rigidity, Chorea... |
ORPHA:48818 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait at... |
OMIM:614381 |
Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... |
OMIM:613280 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Happy demeanor, Recurrent hand flapping, Hemidystonia, Tremor, Speech apraxia, Atten... |
OMIM:619680 |
Stiff-Person Syndrome |
|
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Rigidity, Myoclonic... |
OMIM:184850 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia |
OMIM:619473 |
Sneddon Syndrome |
|
Tremor, Hemiparesis, Chorea |
ORPHA:820 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Aggressiv... |
OMIM:617710 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Limb ataxia, Abnormal pyramidal sign, Head tremor, Chorea, Tremor, Impaired distal vibration sens... |
OMIM:606002 |
48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor, Attention deficit hyperactivity disorder, ... |
ORPHA:10 |
Migraine, Familial Hemiplegic, 2 |
|
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia |
OMIM:602481 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Parkinson Disease 1, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Depression, Myoclonus, Parkinsonism, Rigidity, Gait disturbance, Sh... |
OMIM:168601 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Ankle clonus, Babinski sign, Spastic paraplegia |
OMIM:609541 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Babinski sign, Tremor, Impaired distal vibration sensation, Spasticity, Hypertonia, Actio... |
ORPHA:99027 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Depression, Anxiety, Parkinsonism, Frequent falls, Tremor, Difficulty walking, Fasciculations |
ORPHA:329478 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Ataxia, Tremor, Emotional lability, Irritability |
OMIM:201100 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619467 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Self-injurious behavior, Anxiety, Tremor, Spasticity, Aggressive behavior |
OMIM:300978 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Ataxia, Decreased body weight |
OMIM:278760 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Hypertonia, Truncal titubation, Dysmetria, Tremor, Gait ataxia |
OMIM:618056 |
Parkinson Disease 20, Early-Onset |
|
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dystonia |
OMIM:615530 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Sialidosis Type 2 |
|
Tremor, Ataxia |
ORPHA:87876 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Failure to thrive, Inability to walk, Dysmetria, Appendicular spasticity, Tremo... |
OMIM:617988 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:220111 |
Choreoacanthocytosis |
|
Laryngeal dystonia, Falls, Chorea, Limb dystonia, Emotional lability, Weight loss, Slurred speech... |
ORPHA:2388 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Abnormal pyramidal sign, Falls, S... |
ORPHA:447753 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Anxiety, Dystonia |
ORPHA:438216 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level |
ORPHA:157215 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tip-toe gait, Babinski sign, Gait disturbance, Tremor, Spastic paraplegia |
ORPHA:83629 |
Angelman Syndrome |
|
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Hyperactivity, Recurrent hand flappi... |
ORPHA:72 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Irritability, Hypocalcemic seizures |
OMIM:264700 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Developmental And Epileptic Encephalopathy 8 |
|
Hypertonia, Exaggerated startle response |
OMIM:300607 |
Waisman Syndrome |
|
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait |
OMIM:311510 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety, Tremor, Diffic... |
ORPHA:502423 |
Hyperekplexia 3 |
|
Hypertonia, Exaggerated startle response |
OMIM:614618 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Hemiparesis, Tremor, Paraplegia, Spasticity |
OMIM:105210 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Tremor, Spasticity |
OMIM:618527 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Irritability, Hypocalcemic seizures |
OMIM:277440 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism, Spasticity, Limb dystonia |
OMIM:616840 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Depression, Tremor, Ataxia |
ORPHA:79095 |
Typhoid |
|
Tremor, Ataxia, Hypertonia |
ORPHA:99745 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration |
OMIM:307800 |
Insulinoma |
|
Anxiety, Tremor, Paresthesia, Increased body weight, Abnormality of pain sensation |
ORPHA:97279 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Ataxia, Impulsivity, Oculomotor apraxia, Abnormal pyramidal sign, Rigidity, Ch... |
ORPHA:2131 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Rigidity, Tetraparesis, Tremor, Irritability |
OMIM:617186 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Weight loss |
OMIM:613239 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Irritability, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Sialidosis Type 1 |
|
Ataxia, Myoclonus, Gait disturbance, Tremor, Slurred speech |
ORPHA:812 |
Sandhoff Disease |
|
Ataxia, Exaggerated startle response, Spasticity, Fasciculations, Upper motor neuron dysfunction,... |
OMIM:268800 |
Sneddon Syndrome |
|