Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spinocerebellar Ataxia Type 4 |
|
Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory... |
ORPHA:98765 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Angelman syndrome (Type 1) |
|
Truncal ataxia, EEG abnormality |
DECIPHER:4 |
Angelman syndrome (Type 2) |
|
Truncal ataxia, EEG abnormality |
DECIPHER:54 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait |
OMIM:615945 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation |
ORPHA:217012 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... |
OMIM:617018 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Abasia, Ataxia |
OMIM:209100 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy |
ORPHA:423296 |
Spinocerebellar Ataxia 41 |
|
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
Megalencephaly With Dysmyelination |
|
Spasticity, EEG with photoparoxysmal response, Ataxia |
OMIM:249240 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... |
OMIM:615625 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor |
OMIM:601238 |
Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia |
ORPHA:211017 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Corpus callosum atrophy |
OMIM:615268 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogre... |
ORPHA:94122 |
Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Cerebellar atrophy |
OMIM:616187 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Cerebellar hypoplasia, Spastic tetraplegia, EEG abnormality, Ataxia |
OMIM:618174 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... |
ORPHA:363710 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Parkinsonism, Abnormality of extrapyr... |
OMIM:162350 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Impaired distal proprioception, Spasticity, Impaired distal vibration sensation, Seizure, Spastic... |
OMIM:619742 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Spinocerebellar Ataxia Type 41 |
|
Gait ataxia, Cerebellar vermis atrophy |
ORPHA:458798 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Atrophy/Degenerat... |
OMIM:615957 |
Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Brain atrophy, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Impaired vibration sensation at ankles, Abnormality of somatosensory evoked potentials, Dysdiadoc... |
ORPHA:101007 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy |
OMIM:616291 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t... |
ORPHA:314978 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
EEG abnormality, Myoclonus, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atro... |
OMIM:600143 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babinski sign, Trem... |
OMIM:615768 |
Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Inten... |
ORPHA:308 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor |
ORPHA:85292 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast... |
OMIM:614322 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Short distal pha... |
ORPHA:79445 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Short metacarpal, Brachydactyly |
OMIM:603233 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination |
ORPHA:98766 |
Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Neurona... |
OMIM:610245 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... |
ORPHA:98762 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Myoclonus, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, Intention... |
OMIM:618876 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Limb ataxia, Spastic gait, Gait ataxia |
OMIM:617133 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Episodic Ataxia, Type 8 |
|
Slurred speech, Episodic ataxia, Intention tremor, Ataxia |
OMIM:616055 |
Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... |
ORPHA:423275 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... |
OMIM:616948 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria |
OMIM:617584 |
Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... |
ORPHA:101108 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Lim... |
ORPHA:95434 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Intent... |
ORPHA:284332 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Generalized myoclonic seizure, Seizure, Ataxia |
OMIM:614706 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy |
OMIM:607458 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m... |
OMIM:611726 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancement of the C-reflex, Difficulty walki... |
OMIM:613608 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ... |
OMIM:256731 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... |
OMIM:601068 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Seizure, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia |
OMIM:125370 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... |
OMIM:613728 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Gait ataxia, Seizure, Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:615705 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Bilateral tonic... |
OMIM:616230 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Cerebellar atrophy, Unsteady... |
OMIM:302500 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Craniofacial dystonia, Cerebellar atrophy, Progressive cerebellar ataxia, Dystonia |
OMIM:611694 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Dystonia 23 |
|
Cerebral cortical atrophy, Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbanc... |
OMIM:614860 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Myoclonus, Increased extraneuronal autofluorescent lipopigment, Ataxia, Abnormal nervous system e... |
OMIM:204500 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, Limb at... |
ORPHA:98763 |
Spinocerebellar Ataxia 12 |
|
Cerebral cortical atrophy, Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dyston... |
OMIM:604326 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Hemiplegia, Ataxia, Tremor, Cerebellar atrophy |
OMIM:141500 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Episodic Ataxia, Type 9 |
|
Seizure, Status epilepticus, Clonic seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clon... |
OMIM:618924 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Impaired vibration sensation at ankles, Spastic gait |
ORPHA:401849 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Spinocerebellar Ataxia 11 |
|
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... |
OMIM:604432 |
Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Metaphyseal cupping, Hypophosphatemia, Bowing of the legs, Flared metaphysis, Hypocal... |
OMIM:619073 |
Spinocerebellar Ataxia Type 35 |
|
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormalit... |
ORPHA:79262 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Cerebral degeneration, Ataxia |
OMIM:260970 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Progressive cerebellar ataxia, Intention tremor, Myoclonus |
ORPHA:2589 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Myoclonus, ... |
OMIM:615362 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait disturbance, Tonic ... |
OMIM:618090 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intention tremor |
OMIM:608029 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancemen... |
OMIM:615127 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... |
OMIM:213200 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia |
ORPHA:22 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Seizure, Large for gestational age, Truncal obesity |
OMIM:240900 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Seizure, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... |
OMIM:300423 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... |
OMIM:617145 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment |
OMIM:618387 |
Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Hyperkinetic movements, Rigidity, Myoclonus, Choreoathetosis, Gait disturbanc... |
OMIM:616981 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atr... |
OMIM:619028 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Neuronal loss in central nervous system, ... |
OMIM:615924 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Cerebellar atrophy, Unsteady gait, Intent... |
OMIM:615386 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Cerebral atrophy, Dystonia, Bradykinesia |
OMIM:600116 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic gait, Babinski sign, Aplasia/H... |
ORPHA:401820 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb at... |
ORPHA:101112 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Inability to wal... |
ORPHA:276435 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... |
OMIM:600363 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Chorea, Poor fine motor coordination, EEG with generalized slow activity grade 4, Spasticity, Cer... |
ORPHA:79263 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ... |
OMIM:616127 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking, EEG with spike-wave complexes |
OMIM:614018 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation, Tremor |
ORPHA:101075 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Rigidity, Ataxia, Tremor, Chiari type I malformation, Dystonia, Bradykinesia |
OMIM:617836 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Dysdiadochokinesis, Rigidity, Gait disturbance, Slurred speech, Degeneration of the striatum, Bra... |
OMIM:609161 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Abnormal pyramidal sign, Cerebral cortical atrophy, Falls, Spastic tetraplegia, Rest... |
OMIM:617225 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Cerebral cortical atrophy, Subcortical cerebral atrophy, Shuffling gait, Resting tremor, Parkinso... |
ORPHA:306692 |
Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Focal-onset ... |
OMIM:605021 |
Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Gait disturbance, Focal hemiclonic seizure, Tonic seizure, Bilater... |
OMIM:618141 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity |
ORPHA:101078 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Dysdiado... |
OMIM:213600 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Apraxia, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Aton... |
ORPHA:93952 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ankle clonus, Spastic gait, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Lower limb spas... |
OMIM:610357 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Spastic para... |
OMIM:607565 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... |
OMIM:607876 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon... |
OMIM:618412 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Dysdiadochokinesis, Progressive gait ataxia, Clumsiness, Spastic dysar... |
ORPHA:1175 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... |
ORPHA:98759 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Seizure, Generalized myoclonic seizure, Myoclonus, Choreoathetosis, Ataxia, Bilat... |
OMIM:301020 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Impaired vibration sensation in the lower limbs, Hand tremor, Decreased nerve conduction velocity... |
ORPHA:352675 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Abnormal nerve conduction velocity, Pos... |
OMIM:619862 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... |
ORPHA:454887 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Lower limb spasticity, Cerebral atrophy, Cerebella... |
OMIM:617916 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Gait ataxia, Spasticity, Inability to walk, Cerebellar hypoplasia, Apraxia, Bi... |
OMIM:617810 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of ambulation, Tremor, ... |
ORPHA:521406 |
Spinocerebellar Ataxia 29 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Trunca... |
OMIM:117360 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Inability to walk, EEG abnormality, Myoclonus, Ataxia, Difficulty walking, Dystonia |
OMIM:617829 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Dysmetria, Tremor, Cerebral atrophy, Cerebellar atrophy, Unsteady gait |
OMIM:619405 |
Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy |
OMIM:606658 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Babinski sign, Intention tremor, Dys... |
ORPHA:453521 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Loss of Purkinje... |
OMIM:616795 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... |
ORPHA:391411 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand tremor, Tremor, Diffic... |
ORPHA:98764 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... |
ORPHA:397946 |
Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Gait ataxia, Poor fine motor coordination, Cerebral cortical atrophy, Cerebellar vermis atrophy, ... |
ORPHA:512260 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
Spinocerebellar Ataxia 50 |
|
Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Acti... |
OMIM:620158 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Corpus callosum atrophy, Spasticity, Choreoathetosis, Positive Romberg sign, Ataxia, Babinski sig... |
OMIM:618088 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Bilateral tonic-clonic seizur... |
OMIM:618093 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Inability t... |
OMIM:614831 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Cerebellar hypoplasia, Spasti... |
ORPHA:314603 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal ataxia, Myoclonus, Tremor, EEG wi... |
OMIM:618587 |
Roussy-Lévy Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Postural tremor, Decreased motor nerve conduction veloc... |
ORPHA:3115 |
Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait |
ORPHA:210128 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Cerebell... |
OMIM:607346 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Rigidity, Ataxia, Decreased nerve conduction velocity, Bradykinesia, Fasciculations |
OMIM:183050 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... |
ORPHA:98811 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Global brain atrophy, Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the d... |
OMIM:610185 |
Cln5 Disease |
|
Spasticity, Cerebral cortical atrophy, Dysdiadochokinesis, Inability to walk, Truncal ataxia, EEG... |
ORPHA:228360 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Decreased nerve conduction velocity, Ataxia, Hypertonia |
ORPHA:1368 |
Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Gait ataxia, Cerebellar atrophy, Limb ataxia, Postural tremor |
OMIM:620174 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Spasticity, Seizure, Large for gestational age |
ORPHA:356996 |
Glut1 Deficiency Syndrome 2 |
|
EEG abnormality, Choreoathetosis, Ataxia, Tremor, Cerebral atrophy, Dystonia |
OMIM:612126 |
Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... |
ORPHA:101109 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Gait ataxia, Paresthesia, Decreased motor nerve conduction velocity, Ataxia, Positive Romberg sig... |
OMIM:601098 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia, EEG abnormality |
OMIM:617831 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Impaired pain sensa... |
OMIM:616719 |
Spinocerebellar Ataxia 46 |
|
Gait ataxia, Limb ataxia, Positive Romberg sign, Dysmetria, Cerebellar atrophy |
OMIM:617770 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Abnormal pons morphology, Abnormal cerebellum m... |
ORPHA:98 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Gait ataxia, Impaired distal vibration sensation, Dysdiadochokinesis, Oculomotor apraxia, Limb at... |
OMIM:617633 |
3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia |
ORPHA:67047 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Spinocerebellar Ataxia 49 |
|
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Dysmetri... |
OMIM:619806 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Gait ataxia, Chorea, Cerebellar vermis atrophy, Seizure, Inability to walk, Ataxia, Dysmetria |
OMIM:618501 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, EEG with spike-wave complexes (2.5-3.5 Hz), Ataxia |
OMIM:616366 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Spastic gait, Up... |
ORPHA:100989 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, EEG with ... |
OMIM:254800 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... |
ORPHA:216873 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Cerebellar vermis atrophy, Seizure, Weight loss, Rigidity, Myoclonus, Ataxia... |
ORPHA:248111 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Paraparesis, Gait d... |
OMIM:302800 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar dysplasia, Typical absence seizure, Abnormal cerebellum morphology, Seizure, Abnormal ... |
ORPHA:101070 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired distal vibration sensation, Hand tremor, Babinski sign, Impaired pain sensation, Decreas... |
OMIM:618279 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor, Cerebellar atrophy |
OMIM:616494 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebellar hypoplasia, Rigid... |
ORPHA:33445 |
Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... |
OMIM:607208 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Spinocerebellar Ataxia 4 |
|
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... |
OMIM:600223 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Hypocalcemic tetany, Hyperphosphatemia, Short metacarpal, Short finger, Brachydactyly,... |
OMIM:103580 |
Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... |
ORPHA:263516 |
Developmental And Epileptic Encephalopathy 97 |
|
Hypsarrhythmia, Tremor, Inability to walk |
OMIM:619561 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Seizure, Ataxia, Steppage gait, Cerebellar atrophy, Distal sensory impairment |
OMIM:607250 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Hypophosphatemia |
OMIM:146350 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dystonia, Cer... |
ORPHA:71517 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Short metacarpal, Brachydactyly, Short metatarsal, Hypoca... |
OMIM:612462 |
Spinocerebellar Ataxia 5 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Upper motor neuron dysfunction, Incoordination, Dys... |
OMIM:600224 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim... |
ORPHA:90117 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Generalized myoclonic seizure... |
OMIM:614487 |
Spinocerebellar Ataxia Type 2 |
|
Gait ataxia, Chorea, Cerebral cortical atrophy, Postural tremor, Parkinsonism, Cerebellar Purkinj... |
ORPHA:98756 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Spasticity, Limb ataxia, Ataxia, Dysmetria, Cerebellar atrophy |
OMIM:610743 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Metacarpal periosteal thickening, Hyperphosphatemia, Achilles tendon calcification, Hypercalcemia |
OMIM:617994 |
Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Cerebellar vermis atrophy, Akinesia, Rigidity, Abnormality of extrapyramidal motor f... |
ORPHA:98773 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis |
ORPHA:228169 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse cerebral at... |
OMIM:607136 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia |
OMIM:615159 |
Behr Syndrome |
|
Cerebellar vermis atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babi... |
OMIM:210000 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... |
OMIM:609270 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Gait disturbance, Seizure |
ORPHA:436141 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... |
OMIM:616204 |
Spinocerebellar Ataxia 26 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Cerebellar atrophy |
OMIM:609306 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Lower limb spasticity, Impa... |
ORPHA:100988 |
Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,... |
ORPHA:1170 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Upper limb spasticit... |
OMIM:614409 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired vibration sensation in the lower limbs, Cerebellar vermis atrophy, Seizure, Spastic dysa... |
ORPHA:94124 |
Spinocerebellar Ataxia 44 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy |
OMIM:617691 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar vermis atrophy, Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy |
OMIM:614229 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensatio... |
ORPHA:99014 |
Infantile Cerebellar-Retinal Degeneration |
|
Decreased body weight, Focal-onset seizure, Ataxia, Failure to thrive, Bilateral tonic-clonic sei... |
OMIM:614559 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG abnormality, EEG with polyspike wave complexes, Poor coordination, Ataxia, Action tremor, Bro... |
OMIM:617665 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Inability to walk, Decreased motor nerve conduction velocity, Gait d... |
ORPHA:101077 |
Nephronophthisis 15 |
|
Obesity, Seizure, Cerebellar vermis hypoplasia |
OMIM:614845 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Inability to walk, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticu... |
ORPHA:330050 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Trapezoidal distal femoral condyles, Genu valgum, Met... |
OMIM:307800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral cortical atrophy, Babinski sign, Bradykinesia, Gait ataxia, Dysmetria, Limb fasciculatio... |
OMIM:615157 |
Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... |
ORPHA:210571 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Motor conduction block, Abnormality of somatosensory evoked potentia... |
ORPHA:206594 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Cerebral atrophy, Tremor, Ataxia |
OMIM:618637 |
Spinocerebellar Ataxia Type 29 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Oculomotor apraxia, Ataxia, Dysmetria... |
ORPHA:208513 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Postural tremor, Decreased motor n... |
OMIM:270685 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Spasticity, Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Dysmetria, Slurred speec... |
ORPHA:352403 |
Null Syndrome |
|
Progressive spastic paraplegia, Abnormality of peripheral nerve conduction, Abnormal cerebellum m... |
ORPHA:280234 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar ataxia, Dy... |
ORPHA:139485 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Abnormal pyramidal sign, Brain atrophy, Parkinsonism, Ataxia, Hypoesthesia, Dysmetria, Sl... |
OMIM:618317 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Spasticity, Chorea, I... |
OMIM:618917 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... |
OMIM:617284 |
Kohlschutter-Tonz Syndrome |
|
Myoclonic seizure, Spasticity, Seizure, Cerebellar hypoplasia, Focal-onset seizure, Ataxia, Bilat... |
OMIM:226750 |
Ataxia-Pancytopenia Syndrome |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Ataxia, Babinski sign, Dysmetria, ... |
OMIM:159550 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar vermis atrophy, Babinski sign, Dysesthesia, Frequent falls, Hypertonia, Unsteady gait,... |
OMIM:614877 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Apraxia, Hand tremor, Ataxia, Babinski sign, Cerebellar atrophy, Dystonia, Neurodegen... |
OMIM:615889 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Short foot, Small hand, Micrognathia, Hypocalcemic seizures, Hypocalcemia, Sho... |
OMIM:241410 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Decreased motor nerve conduction velocity, Rigidity, Decreased amplitude of senso... |
OMIM:619279 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Decreased motor nerve conduction velocity, Babinski sign, Decreased sensory nerve con... |
OMIM:609260 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... |
ORPHA:53583 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Progressive spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Atrophy of the spinal co... |
OMIM:612020 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Ataxia, Spa... |
OMIM:615491 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Dysdiadochokinesis, Cerebellar hypoplasia, Spastic dysarthria, Oculomotor apraxia, Ge... |
ORPHA:313772 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Rigidity, Gait disturbanc... |
OMIM:603472 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired vibration sensation in the lower limbs, Poor fine motor coordination, Spastic ataxia, Ab... |
ORPHA:137898 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Decreased motor nerve conduction velocity, Upper limb postural tremor, Action tremor... |
OMIM:180800 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Axonal degeneration, Truncal ataxia, Oc... |
OMIM:208920 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Abnormal pyramidal sign, Abnormality of somatosensory evoked potentials, Titubation, ... |
ORPHA:280219 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia |
ORPHA:324588 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... |
ORPHA:98772 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Global brain atrophy, Parkinsonism, Ataxia, Tremor, Cerebellar atrophy, Action tremor, Hy... |
OMIM:619738 |
Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Generalized myoclonic se... |
ORPHA:352582 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p... |
ORPHA:98755 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Anemia, Transient hypophosphatemia, Abnormality of the medullary cavity of the... |
OMIM:127000 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... |
OMIM:618049 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Episodic Ataxia, Type 5 |
|
Truncal ataxia, Myoclonus, Episodic ataxia, EEG with generalized spikes, Ataxia, EEG with spike-w... |
OMIM:613855 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomot... |
OMIM:183090 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor, Interictal epileptiform activity |
OMIM:615400 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... |
OMIM:301310 |
Spinocerebellar Ataxia 34 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Cerebral cortical atrophy, Dysdiadochokinesis, ... |
OMIM:133190 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
Narcolepsy Type 1 |
|
Cataplexy, Slurred speech, Obesity |
ORPHA:2073 |
Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... |
OMIM:617350 |
Spinocerebellar Ataxia 6 |
|
Cerebral cortical atrophy, Truncal ataxia, Incoordination, Ataxia, Abnormal vestibulo-ocular refl... |
OMIM:183086 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... |
ORPHA:53351 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Cerebellar atrophy, Progressive cere... |
OMIM:608768 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Developmental And Epileptic Encephalopathy 42 |
|
EEG abnormality, Ataxia, Tremor, Hypertonia, Athetosis |
OMIM:617106 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Gait ataxia, Spasticity, EEG abnormality, Cerebellar hypoplasia, Oculomotor apraxia, Dysmetria, T... |
ORPHA:529665 |
Spastic Ataxia 3, Autosomal Recessive |
|
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Cerebellar vermis atrophy, At... |
OMIM:611390 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Spinocerebellar Ataxia Type 36 |
|
Limb myoclonus, Loss of Purkinje cells in the cerebellar vermis, Truncal ataxia, Limb ataxia, Han... |
ORPHA:276198 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Brain atrophy, Parkinsonism, Hemiparesis, Cerebral cortical hemiatrophy, Tremor, Difficulty walki... |
ORPHA:306669 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Progressive spastic paraplegia, Spasticity, Seizure, Spastic dysarthria, Babinski sign, Overweigh... |
ORPHA:280763 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... |
ORPHA:139426 |
Spinocerebellar Ataxia Type 10 |
|
Gait ataxia, Gait imbalance, EEG with generalized epileptiform discharges, Dysdiadochokinesis, Ba... |
ORPHA:98761 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... |
OMIM:615528 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... |
ORPHA:3344 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar vermis atrophy, Seizure, Tongue fasciculations, Ataxia, Babinski sign, Bilateral tonic... |
OMIM:618170 |
Developmental And Epileptic Encephalopathy 99 |
|
Eyelid myoclonus, Focal-onset seizure, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... |
OMIM:619606 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tetraplegia, Spastic diplegia, EEG with persistent abnormal rhythmic activity, Clumsiness, Impair... |
ORPHA:206443 |
Spinocerebellar Ataxia 13 |
|
Gait ataxia, Spasticity, Impaired distal vibration sensation, Abnormal pyramidal sign, Myoclonus,... |
OMIM:605259 |
Ataxia-Oculomotor Apraxia 4 |
|
Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy, Impaired vi... |
OMIM:616267 |
Developmental And Epileptic Encephalopathy 47 |
|
Inability to walk, Focal-onset seizure, Status epilepticus, Limb ataxia, Ataxia, Gait disturbance... |
OMIM:617166 |
Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Gait... |
ORPHA:542310 |
Spinocerebellar Ataxia Type 18 |
|
Gait ataxia, Somatic sensory dysfunction, Titubation, Dysmetria, Head tremor, Cerebellar atrophy |
ORPHA:98771 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Seizure, Inability to walk, Generalized myoclonic seizure, Ataxia, Lower limb spasticity, Obesity... |
OMIM:616756 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Cerebellar atrophy |
OMIM:612016 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia |
OMIM:128235 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... |
ORPHA:240103 |
Peroxisome Biogenesis Disorder 5B |
|
Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:614867 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Bulging epiphyses, Hypophosphatemia, Tibial bowing, Femoral bowing, Bow... |
OMIM:600081 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Tremor, Cerebral cortical atrophy, Ataxia |
OMIM:300983 |
Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Oculomotor apraxia, Large for gestational age, Ataxia, Tall stature |
OMIM:617757 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
Hsd10 Disease |
|
Frontotemporal cerebral atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, ... |
ORPHA:391417 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Impaired vibration sensation in the lower limbs, Spasticity, Cerebellar vermis atrophy, Spastic a... |
OMIM:270550 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Cerebellar vermis atrophy, Tremor, Cerebellar ... |
OMIM:617435 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity... |
OMIM:618877 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis, Clumsiness, Gait dist... |
OMIM:277460 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Hyperphosphatemia, Short metacarpal, Long hallux, Epiphyseal stippling, ... |
OMIM:101800 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
Pseudohypoparathyroidism Type 1C |
|
Broad distal phalanx of the thumb, Hypocalcemic tetany, Hyperphosphatemia, Short 4th metacarpal, ... |
ORPHA:79444 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Short humerus, Lateral femoral bowing, Hydroxyprolinemia, Bowin... |
OMIM:239000 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Choreoathetosis, Ataxia, Dysmetria, ... |
OMIM:604391 |
Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Difficulty walking |
OMIM:619191 |
Leukodystrophy, Hypomyelinating, 6 |
|