Photoparoxysmal Response 1 |
|
EEG with photoparoxysmal response |
OMIM:132100 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Posterior Column Ataxia |
|
Impaired proprioception, Scoliosis, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia |
ORPHA:1180 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Spinocerebellar Ataxia Type 4 |
|
Motor deterioration, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioceptio... |
ORPHA:98765 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Abnormal pyramidal sign, Postural tremor, Dementia, Difficulty walking, Progressive cerebellar at... |
ORPHA:85292 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
X-Linked Complicated Spastic Paraplegia Type 1 |
|
Cognitive impairment, Upper motor neuron dysfunction, Ataxia, Spastic paraplegia, Mental deterior... |
ORPHA:306617 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Neuhauser-Eichner-Opitz Syndrome |
|
Spasticity, Echolalia, Rigidity, Ataxia, Hypertonia |
ORPHA:2672 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
Episodic Ataxia, Type 8 |
|
Slurred speech, Episodic ataxia, Intention tremor, Ataxia |
OMIM:616055 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Abasia, Inability to walk |
OMIM:209100 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor |
ORPHA:217012 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Upper limb postural tremor, Limb dystonia, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Delayed speech and language development, Spasticity, Ataxia, EEG abnormality |
OMIM:619228 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment |
OMIM:617018 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking |
ORPHA:423296 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Intention tremor, Truncal ataxia, Broad-based gait |
OMIM:601238 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... |
OMIM:615625 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogressive cerebellar ataxia |
ORPHA:94122 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor |
OMIM:611105 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, ... |
ORPHA:401901 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements |
OMIM:611031 |
Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Spastic parapl... |
OMIM:182690 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor... |
ORPHA:79262 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Gait ataxia, Delayed speech and language development, Limb ataxia |
ORPHA:284282 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... |
ORPHA:101108 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Progressive Myoclonic Epilepsy Type 1 |
|
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... |
OMIM:619263 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Echolalia, EEG abnormality, Impaired social interactions, Truncal ataxia, Delayed speech and lang... |
OMIM:608636 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Choreoathetosis, Spastic diplegia, Glomerular sclerosis |
OMIM:257970 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
Roussy-Lévy Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Postural tremor,... |
ORPHA:3115 |
Autosomal Spastic Paraplegia Type 72 |
|
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity, Memory impairment |
ORPHA:401849 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Delayed speech and language development, Ataxia |
OMIM:619061 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Torsion dystonia, Focal dystonia, Action tremor, Cra... |
ORPHA:98807 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Galloway-Mowat Syndrome 5 |
|
Spasticity, Epicanthus, Stage 5 chronic kidney disease, Ataxia, Proteinuria, Steroid-resistant ne... |
OMIM:617731 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... |
ORPHA:363710 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Ataxia, Gait disturbance, Dementia |
ORPHA:2274 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Anxiety, Focal dystonia, Tremor, Mental deterioration, Dystonia, Fascicu... |
ORPHA:309169 |
Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par... |
OMIM:605407 |
Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... |
OMIM:616948 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Cognitive impairment, Hypogonadism, Truncal ataxia, Limb ataxia, Babins... |
OMIM:615768 |
Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia, Mental deterioration |
OMIM:616187 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Upper limb spasticity, Gait disturbance, Babinski sign, Spastic paraplegia, Scoliosis, ... |
OMIM:611225 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Cognitive impairment, Tremor by anatomical... |
ORPHA:98762 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Spasticity, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis... |
OMIM:301006 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia |
OMIM:614203 |
Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia |
OMIM:614860 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations |
OMIM:613728 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Claw hand deformity, Steppage gait, Proteinuria, Focal segmental ... |
OMIM:614455 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Inertia, Parkinsonism, Rigidit... |
ORPHA:216873 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... |
ORPHA:210571 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Truncal ataxia, Dysmetria, Ataxia, Babinski sign |
OMIM:617584 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor... |
OMIM:604326 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Spasticity, Kyphosis, Limb ataxia, Ataxia, Dysmetria, Scoliosis |
OMIM:610743 |
Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... |
OMIM:610245 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Delayed speech and language development, Inability to walk |
OMIM:619333 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia,... |
ORPHA:98763 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus, Dementia |
OMIM:208700 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... |
ORPHA:454887 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Distal sensory impairment, Difficulty walking, Kyphosis |
OMIM:617087 |
Huntington Disease-Like 2 |
|
Chorea, Inertia, Anxiety, Rigidity, Apathy, Dementia, Dystonia, Action tremor, Subcortical dement... |
OMIM:606438 |
Spinocerebellar Ataxia 41 |
|
Gait ataxia, Unsteady gait, Ataxia |
OMIM:616410 |
Focal Segmental Glomerulosclerosis 9 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis |
OMIM:616220 |
Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Cognitive impairment, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia... |
ORPHA:101109 |
Dystonia 11, Myoclonic |
|
Anxiety, Writer's cramp, Torticollis, Myoclonus, Tremor, Panic attack, Agoraphobia |
OMIM:159900 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Dementia, Ataxia, Dystonia |
OMIM:125370 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia |
OMIM:611694 |
Nephrotic Syndrome, Type 2 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:600995 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Head tremor |
OMIM:619988 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxi... |
OMIM:617145 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait |
ORPHA:210128 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
Nephrotic Syndrome, Type 14 |
|
Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacemen... |
OMIM:617575 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Spasticity, Gait disturbance, Nephropathy, Paraplegia, Proteinuria |
ORPHA:2820 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... |
ORPHA:98811 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Progressive gait ataxia, Clumsiness, Babinski sign, Intention tremor, Dysmetria, Diff... |
ORPHA:284332 |
Spinocerebellar Ataxia Type 35 |
|
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Enamel hypoplasia, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:618349 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... |
OMIM:213600 |
Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Ataxia, Hypertonia |
OMIM:617020 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Emotional lability, Babinsk... |
OMIM:615362 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Polymyoclonus, Infantile |
|
Myoclonus, Irritability, Ataxia |
OMIM:263550 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor |
OMIM:302500 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... |
OMIM:301310 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Myoclonus, Right hemiplegia, Glomerular sclerosis, Ataxia, Loss of ambulation... |
OMIM:607426 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Dementia, Anxiety, Dystonia, Bradykinesia |
OMIM:605909 |
Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Episodic quadriplegia, Hemiplegia, Ataxia, Tetraplegia, Mental deterioration, Dy... |
OMIM:614820 |
Dystonia With Ringbinden |
|
Chorea, Dystonia, Gait disturbance |
OMIM:224550 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Spastic gait, Babinski sign, Difficulty walking, Lower limb spast... |
ORPHA:401820 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response ... |
ORPHA:314632 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Aggressive behavior, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tr... |
OMIM:617225 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Scoliosis |
ORPHA:101078 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Anxiety, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Mental dete... |
OMIM:618093 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... |
OMIM:613092 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Synophrys, Ataxia, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Hea... |
OMIM:619428 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Delayed speech and language development, Myoclonus, Ataxia, EEG abnormality |
OMIM:600143 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Cognitive impairment, Tip-toe gait, Torticollis, Myoclonus, Gait disturb... |
OMIM:617284 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Scoliosis |
ORPHA:101075 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Mental deterioratio... |
OMIM:615924 |
Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:603278 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Delayed speech and language development, Myoclonus, Ataxia, Giant somatosensory evoked ... |
OMIM:618876 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Increased urinary disac... |
OMIM:271630 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Hemiplegia, Tremor, Anxiety |
OMIM:141500 |
3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia |
ORPHA:67047 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... |
ORPHA:53583 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Falls, Shuffling gait, Resting tremor, Rigidity, Parkinsonism, Short stepped shuffling gait, Brad... |
ORPHA:306692 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Intention tremor |
OMIM:608029 |
Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Progressive loss of facial adipose tissue, Hematuria, Membranoproliferative g... |
OMIM:613913 |
Scholte Syndrome |
|
Abnormal pyramidal sign, Epicanthus, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Upslant... |
OMIM:300977 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Wrist flexion contracture, Spasticity, Postural tremor, Gait disturbance, Positive Romberg sign, ... |
OMIM:616668 |
Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Shuffling gait, Limb hypertonia, Parki... |
OMIM:615528 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Anxiety, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:240085 |
Frasier Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Primary amenorrhea, Proteinuria, Focal segmen... |
OMIM:136680 |
Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Dysmetria, Difficulty walking, Anxiety, Mental deterioration |
OMIM:619191 |
Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hypertonia, Irritabilit... |
OMIM:261630 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Progressive spastic paraplegia, Hand tremor, Lower limb spasticity |
ORPHA:401835 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Gait ataxia, Glomerulopathy, Postural tremor, Nephrotic syndrome, Myoclonus, Nephropathy, Unstead... |
OMIM:254900 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Limb ataxia, Hand tremor, Gait distur... |
ORPHA:98764 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking, Memory impairment |
OMIM:614018 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Emotional lability, Tremor, Anxiety, Unsteady gait, Dystonia, Bradykin... |
OMIM:128235 |
Galloway-Mowat Syndrome 4 |
|
Spasticity, Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Di... |
OMIM:617730 |
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 14 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Unsteady gait, Intention tremor |
OMIM:615386 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Torticollis, Myoclonus, Hand tremor, Limb dystonia, Or... |
ORPHA:420485 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia |
ORPHA:98809 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Lim... |
ORPHA:95434 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... |
OMIM:600363 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia |
OMIM:615159 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
Brunner Syndrome |
|
Low frustration tolerance, Aggressive behavior, Self-injurious behavior, Kinetic tremor |
OMIM:300615 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Cognitive impairment, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwh... |
OMIM:607346 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... |
OMIM:602124 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
Huntington Disease-Like 1 |
|
Chorea, Aggressive behavior, Rigidity, Incoordination, Dementia, Dysmetria, Anxiety, Unsteady gait |
OMIM:603218 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor |
OMIM:615400 |
Spinocerebellar Ataxia 11 |
|
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia |
OMIM:604432 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Delayed speech and language development, Abnormal nervous system electrophysiology, Ataxia, Myocl... |
OMIM:204500 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... |
ORPHA:240103 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Choreoathetosis, Ptosis, Kyphoscoliosis, Tremor, Dystonia, Horsesh... |
OMIM:617664 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... |
ORPHA:521406 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Ataxia, Hypoesthesia, Dysmetria, Slurred speech, D... |
OMIM:618317 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Babinski sign, Intention tremor, Dys... |
ORPHA:453521 |
3-Methylglutaconic Aciduria, Type Iii |
|
Chorea, Spasticity, Cognitive impairment, Abnormality of extrapyramidal motor function, Ataxia, B... |
OMIM:258501 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Clumsiness, Ataxia, Organic aciduria, Kyphoscoliosis, Scoliosis, Tongue fasciculations |
OMIM:614707 |
Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Hypergonadotropic hypogo... |
ORPHA:347 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor, Difficulty walking |
OMIM:613608 |
X-Linked Progressive Cerebellar Ataxia |
|
Dysdiadochokinesis, Spastic dysarthria, Clumsiness, Progressive gait ataxia, Limb ataxia, Babinsk... |
ORPHA:1175 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Thoracolumbar scoliosis, Flexion contracture of digit, Hypogonadism, Epicanthus, Thoracic kyphosi... |
ORPHA:3041 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Cognitive impairment, Dysdiadochokinesis, Truncal ataxia, Myoclonus, ... |
ORPHA:101 |
Valinemia |
|
Hyperkinetic movements, Valinuria |
OMIM:277100 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Spastic gait... |
OMIM:614409 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Distal sensory impairment |
OMIM:618387 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Spastic para... |
OMIM:607565 |
Gordon Holmes Syndrome |
|
Chorea, Secondary amenorrhea, Oligomenorrhea, Ataxia, Dementia, Primary amenorrhea, Hypogonadotro... |
OMIM:212840 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis, Fasciculations |
OMIM:271200 |
Galactosemia I |
|
Aminoaciduria, Premature ovarian insufficiency, Galactosuria, Increased level of galactitol in ur... |
OMIM:230400 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis |
ORPHA:228169 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Aggressive behavior, Inability to walk, Emotional lability, Tremor, Self-mutilation, Waddling gait |
OMIM:616269 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Progressive loss of facial adipose tissue, Hematuria, Membranoproliferative g... |
OMIM:608709 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Gait ataxia, Downslanted palpebral fissures, Spasticity, Hyperlordosis, Increased vertebral heigh... |
OMIM:616817 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Wrist flexion contracture, Flexion contracture, Shuffling gait, Spastic tetraplegia, Spastic gait... |
OMIM:300055 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... |
ORPHA:391411 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia |
ORPHA:324588 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Epicanthus, Nephrotic syndrome |
OMIM:618347 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Motor deterioration, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambula... |
OMIM:256731 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Emoti... |
OMIM:606159 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Flexion contracture, Myoclonus, Camptodactyly, Inguinal hernia, Kyphoscoli... |
OMIM:618011 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, Memory impairment |
OMIM:620158 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Gait ataxia, Urinary incontinence, Impaired distal vibration sensation, Abnormal pyramidal sign, ... |
OMIM:616688 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Progressive spastic paraplegia, Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic ... |
ORPHA:466722 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Cognitive impairment, Akinesia, Rigidity, Abnormality of extrapyramidal motor functi... |
ORPHA:98773 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Upper limb postural tremor, Kyphoscoliosis, Action tremor, Distal sensory impairment |
OMIM:180800 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Progressive spastic paraplegia, Urinary incontinence, Abnormality of the cervical spine, Urinary ... |
ORPHA:306511 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Short palpebral fissure, Spasticity, Inability to walk, Epicanthus, Apraxia, Camptodactyly, Ataxi... |
OMIM:616354 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-... |
ORPHA:397946 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:213200 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Reduced sper... |
ORPHA:730 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf... |
ORPHA:276435 |
Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Choreoathetosis, Almond-shaped palpebral fissure, Diffuse mesangi... |
OMIM:619603 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Cognitive impairment, Spastic at... |
OMIM:616795 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Spinocerebellar Ataxia 5 |
|
Gait ataxia, Cognitive impairment, Dysdiadochokinesis, Limb ataxia, Upper motor neuron dysfunctio... |
OMIM:600224 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Gait ataxia, Limb ataxia, Postural tremor |
OMIM:620174 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Kyphosis, Spinal rigidity, Short neck, Frequent falls, Scoliosis |
OMIM:300718 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Progressive spastic paraplegia, Knee flexion contracture, Tip-toe gait, Babinski sign, Kyphoscoli... |
ORPHA:496689 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Myoclonus, Hand tremor, Paroxysmal dystonia |
OMIM:608105 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Lower limb spasticity, Impa... |
ORPHA:100988 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking, Parkinsonism |
OMIM:619565 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Dystonia 16 |
|
Retrocollis, Abnormal pyramidal sign, Cognitive impairment, Postural tremor, Parkinsonism, Limb d... |
OMIM:612067 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Spasticity, Inability to walk, Spastic tetraplegia, Spastic paraplegia, Kyphoscoliosis, Joint con... |
OMIM:617977 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Aggressive behavior, Frontal lobe dementia, Parkinsonism, Rigidity, Myoclonu... |
OMIM:607136 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Emotional lability, Cranio... |
ORPHA:71517 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... |
ORPHA:98810 |
Baker-Gordon Syndrome |
|
Inability to walk, Epicanthus, Choreoathetosis, Ataxia, Scoliosis, Involuntary movements, Hyperki... |
OMIM:618218 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Broad-based gai... |
OMIM:616127 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... |
OMIM:300423 |
Nemaline Myopathy 7 |
|
Knee flexion contracture, Gait disturbance, Waddling gait, Kyphoscoliosis, Frequent falls, Lumbar... |
OMIM:610687 |
Spinocerebellar Ataxia 49 |
|
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Dementia, Ataxia, Babinski sign... |
OMIM:619806 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Scoliosis |
ORPHA:99014 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Cognitive impairment, Motor deterioration, Clum... |
ORPHA:79263 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... |
ORPHA:567548 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Tip-toe gait, Kyphosis, Spinal rigidity, Gait disturbance, Scoliosis, Lower limb s... |
OMIM:617404 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Beaking of vertebr... |
ORPHA:40 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Rigidity, Ataxia, Bradykinesia, Fasciculations |
OMIM:183050 |
Huntington Disease-Like 1 |
|
Poor fine motor coordination, Gait ataxia, Abnormal posturing, Chorea, Weight loss, Clumsiness, G... |
ORPHA:157941 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism, Ataxia |
ORPHA:88637 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:619405 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Kyphosis, Lumbar hyperlordosis, Ataxia, Scoliosis, Lower limb spasticity, Broa... |
OMIM:616756 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Paresthesia, Limb ataxia, Impaired pain sensation, Tremor, Frequent fall... |
OMIM:616719 |
Developmental And Epileptic Encephalopathy 41 |
|
Spasticity, Flexion contracture, Inability to walk, Babinski sign, Kyphoscoliosis, Tetraparesis, ... |
OMIM:617105 |
Whistling Face Syndrome, Recessive Form |
|
Short palpebral fissure, Knee flexion contracture, Epicanthus, Blepharophimosis, Elbow flexion co... |
OMIM:277720 |
Cednik Syndrome |
|
Downslanted palpebral fissures, Hypogonadism, Nephrotic syndrome, Ataxia, Proteinuria |
ORPHA:66631 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Spinocerebellar Ataxia 44 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Delayed speech and language development, Ataxia, Dys... |
OMIM:617691 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Dystonia, Anxiety |
OMIM:619651 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... |
ORPHA:53351 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Cognitive impairment, Truncal ataxia, O... |
OMIM:208920 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus, Dementia, Mental deterioration |
OMIM:254800 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
Charcot-Marie-Tooth Disease Type 1A |
|
Paresthesia, Gait imbalance, Gait disturbance, Kyphoscoliosis, Sensory ataxia, Distal sensory imp... |
ORPHA:101081 |
Parkinson-Dementia Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Rigidity, Dementia, Tremor |
OMIM:260540 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Diminished motivation, Aggressive behavior, Cognitive impairment, Gait apraxia, Dysd... |
OMIM:615157 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Gait disturbance, Spastic paraplegia, Upper limb hypertonia, Clonus, Impaired vibratory... |
OMIM:614898 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... |
OMIM:618049 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Spinocerebellar Ataxia 21 |
|
Gait ataxia, Aggressive behavior, Cognitive impairment, Postural tremor, Parkinsonism, Akinesia, ... |
OMIM:607454 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Dystonia |
OMIM:617916 |
Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Gait disturbance, Emotional lability, ... |
ORPHA:542310 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia, Ataxia |
OMIM:613909 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Cognitive impairment, Rigidity, Gait disturbance, Ataxia, Dementia, ... |
OMIM:603472 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Aggressive behavior, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, My... |
OMIM:137440 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Babinski sign, Dysmetria, Vestibular areflexia, Progressive cere... |
ORPHA:504476 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Short neck, Scoli... |
OMIM:271530 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... |
OMIM:609270 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Falls, Parkinsonism, Rigidity,... |
ORPHA:99750 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Spastic gait, Spastic paraplegia, Kyphoscoliosis, Horseshoe kidney, Waddling gait |
ORPHA:101003 |
Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Arthrogrypos... |
OMIM:618285 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis, Nephrotic syndrome, Gait disturbance, Nephropathy, Tremor, Hypertonia, Proteinuria |
ORPHA:1192 |
Myopathy, spheroid body |
|
Tremor, Broad-based gait, Waddling gait |
OMIM:182920 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... |
OMIM:174000 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease |
OMIM:617056 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Epicanthus, Truncal ataxia, Myoclonus, Abnormal vertebral morphology, Ataxia, Dysm... |
OMIM:250620 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Spasticity, Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Dysmetria, Slurred speec... |
ORPHA:352403 |
Foxg1 Syndrome |
|
Spasticity, Inability to walk, Myoclonus, Choreoathetosis, Kyphoscoliosis, Difficulty walking, Sc... |
ORPHA:561854 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Spasticity, Tremor, Myoclonus |
OMIM:616494 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Spasticity, Inability to walk, Loss of ability to walk in early childhood, Ptosis,... |
OMIM:612073 |
Masa Syndrome |
|
Hyperlordosis, Shuffling gait, Kyphosis, Spastic paraplegia, Paraplegia, Lower limb spasticity |
OMIM:303350 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Dystonia 9 |
|
Abnormal pyramidal sign, Cognitive impairment, Paresthesia, Choreoathetosis, Episodic ataxia, Spa... |
OMIM:601042 |
Aicardi-Goutieres Syndrome 9 |
|
Spasticity, Spastic diplegia, Recurrent urinary tract infections, Stage 5 chronic kidney disease,... |
OMIM:619487 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Palpebr... |
ORPHA:567546 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,... |
ORPHA:240094 |
Spinocerebellar Ataxia 29 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Truncal titubation, Impaired tand... |
OMIM:117360 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Cognitive impairment, Oculomotor apraxia, Poor motor coordination, Ataxi... |
ORPHA:1170 |
Spinal Arteriovenous Metameric Syndrome |
|
Urinary bladder sphincter dysfunction, Abnormality of the kidney, Paraparesis, Kyphoscoliosis, Cu... |
ORPHA:53721 |
Trisomy X |
|
Multicystic kidney dysplasia, Epicanthus, Renal hypoplasia/aplasia, Secondary amenorrhea, Tremor,... |
ORPHA:3375 |
Kufor-Rakeb Syndrome |
|
Spasticity, Aggressive behavior, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Park... |
OMIM:606693 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
Spinocerebellar Ataxia Type 2 |
|
Gait ataxia, Chorea, Postural tremor, Parkinsonism, Dementia, Kinetic tremor, Progressive cerebel... |
ORPHA:98756 |
Proteus Syndrome |
|
Downslanted palpebral fissures, Multiple lipomas, Limbal dermoid, Spinal canal stenosis, Ptosis, ... |
OMIM:176920 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Impaired vibration sensation at ankles, Ankle clonus, Flexion contracture, Spastic gait, Upper li... |
OMIM:275900 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome |
ORPHA:839 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Bab... |
ORPHA:101112 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Cognitive impairment, Truncal at... |
ORPHA:320391 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Cognitive impairment, Myoclonus, Ataxia, Dementia, Tremor |
OMIM:607876 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Tremor,... |
ORPHA:276621 |
Spinocerebellar Ataxia Type 29 |
|
Gait ataxia, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxia, Ataxia, Dysmetria, Int... |
ORPHA:208513 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Parkinsonism, Rigidity, Dementia, Spastic paraparesis, Tremor, Dystonia, Bra... |
ORPHA:329284 |
Seckel Syndrome 8 |
|
Ectopic kidney, Kyphoscoliosis |
OMIM:615807 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Gait ataxia, Dysdiadochokinesis, Absent speech, Dysmetria, Limb dysmetria |
ORPHA:324262 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Premature ovarian insufficiency, Apraxia, Hand tremor, Ataxia, Babinski sign, Dementi... |
OMIM:615889 |
Dopa-Responsive Dystonia |
|
Inability to walk, Upper motor neuron dysfunction, Difficulty walking, Arm dystonia, Slurred spee... |
ORPHA:255 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Vertebral wedging, Kyphoscoliosis, Platyspondyly, Beaking of vertebral bodies, Waddling gait |
OMIM:616583 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... |
ORPHA:98759 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Cognitive impairment, Falls, Rigidity, Dementia, Abnormal synaptic transmission, T... |
ORPHA:683 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Babinski sign, Tremor, Steppage gait, Hypertonia, Mental deterioration, Distal sensor... |
OMIM:609260 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Progressive neurologic ... |
OMIM:261640 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Kyphoscoliosis, Amelogenesis imperfecta |
OMIM:614727 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Charcot-Marie-Tooth Disease Type 4D |
|
Somatic sensory dysfunction, Inability to walk, Postural tremor, Kyphoscoliosis, Unsteady gait, D... |
ORPHA:99950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired distal vibration sensation, Polyminimyoclonus, Impaired tandem gait, Impaired pain sensa... |
OMIM:619574 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Downslanted palpebral fissures, Kyphoscoliosis, Atlantoaxial abnormality, Shuffling gait |
ORPHA:3433 |
Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Myoclonus, Diffuse mesangial sc... |
OMIM:619609 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, Delayed speech and language ... |
OMIM:616204 |
Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Gait ataxia, Impaired distal vibration sensation, Impotence, Dysdia... |
OMIM:300623 |
Saccharopinuria |
|
Gait ataxia, Cognitive impairment, Spastic diplegia, Tremor, Mental deterioration, Distal sensory... |
ORPHA:3124 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Torsion dystonia, Oroman... |
OMIM:602629 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Postural tremor, Resting tremor, Akinesia, Clumsiness, Parkinsonism, Rigidity, Freezing of gait, ... |
OMIM:619911 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Cognitive impairment, Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric... |
ORPHA:352649 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... |
OMIM:606703 |
Congenital Myopathy 13 |
|
Short palpebral fissure, Downslanted palpebral fissures, Flexion contracture, Blepharophimosis, P... |
OMIM:255995 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Increased susceptibility to fractures, Abnormal posturing, Spasticity, Tip-toe gait, Inability to... |
ORPHA:216866 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly |
ORPHA:93304 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis, Sparse lateral eyebrow |
OMIM:146720 |
Perry Syndrome |
|
Parkinsonism, Abnormality of extrapyramidal motor function, Apathy, Dementia, Tremor |
ORPHA:178509 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax... |
OMIM:619862 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hyperki... |
OMIM:233910 |
Galloway-Mowat Syndrome 3 |
|
Downslanted palpebral fissures, Spasticity, Nephrotic syndrome, Stage 5 chronic kidney disease, E... |
OMIM:617729 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Somatic sensory dysfunction, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Back pain, Hemi... |
ORPHA:199354 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Tip-toe gait, Achilles tendon contracture, Kyphoscoliosis, Frequent falls, Difficulty walking |
ORPHA:370980 |
Sneddon Syndrome |
|
Chorea, Hemiparesis, Dementia, Tremor, Mental deterioration, Memory impairment |
ORPHA:820 |
Primary Dystonia, Dyt4 Type |
|
Blepharospasm, Dysdiadochokinesis, Upper limb postural tremor, Torticollis, Gait disturbance, Kyp... |
ORPHA:98805 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia, Bradykinesia |
ORPHA:306669 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Dy... |
ORPHA:96 |
Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Cogwheel rigidity, Hy... |
OMIM:616981 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A... |
ORPHA:391417 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Impaired proprioception, Upper limb hypertonia, Clonus, Impaired vibratory sensation |
ORPHA:319199 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Tremor, Frequent fall... |
ORPHA:2590 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia |
ORPHA:139485 |
Maternally-Inherited Diabetes And Deafness |
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Glomerulopathy, Renal insufficiency, Ataxia, Proteinuria |
ORPHA:225 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Spasticity, Rigidity, Dementia, Tremor, Progressive neurologic deterioration, Hypertonia |
OMIM:176500 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Knee flexion contracture, Hyperlordosis, Hip contracture, Tip-toe gait, Kyphosis, Achilles tendon... |
OMIM:615290 |
Autosomal Recessive Ataxia, Beauce Type |
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Urinary incontinence, Spasticity, Ankle clonus, Kyphosis, Clumsiness, Gait disturbance, Upper mot... |
ORPHA:88644 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
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Irregular vertebral endplates, Lumbar scoliosis, Secondary amenorrhea, Kyphoscoliosis, Platyspondyly |
OMIM:612847 |
Denys-Drash Syndrome |
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Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Autosomal Recessive Spastic Paraplegia Type 9B |
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Spasticity, Impaired vibration sensation at ankles, Tip-toe gait, Pollakisuria, Spastic gait, Uri... |
ORPHA:447760 |
Hereditary Pheochromocytoma-Paraganglioma |
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Renal cell carcinoma, Retinal capillary hemangioma, Elevated urinary epinephrine, Hematuria, Glom... |
ORPHA:29072 |
Mucopolysaccharidosis-Plus Syndrome |
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Renal tubular atrophy, Flexion contracture, Inability to walk, Nephrotic syndrome, Epicanthus, En... |
OMIM:617303 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Chorea, Aggressive behavior, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Anxiety, Hy... |
OMIM:619738 |
Charcot-Marie-Tooth Disease, Type 4K |
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Kyphoscoliosis, Dystonia, Difficulty walking, Ataxia |
OMIM:616684 |
Nephrotic Syndrome, Type 8 |
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Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Tremor, Kinetic tremor |
OMIM:190310 |
Inherited Creutzfeldt-Jakob Disease |
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Gait ataxia, Chorea, Bradykinesia, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myocl... |
ORPHA:282166 |
Nemaline Myopathy 4 |
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Kyphoscoliosis, Flexion contracture, Difficulty walking, Waddling gait |
OMIM:609285 |
Combined Saposin Deficiency |
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Hyperkinetic movements, Myoclonus, Fasciculations, Babinski sign |
OMIM:611721 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Ataxia, Dysmetria, T... |
OMIM:614831 |
Spinocerebellar Ataxia 2 |
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Urinary incontinence, Spasticity, Urinary bladder sphincter dysfunction, Dysdiadochokinesis, Post... |
OMIM:183090 |
Thyrocerebrorenal Syndrome |
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Myoclonus, Nephritis, Slurred speech, Renal insufficiency, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Spinocerebellar Ataxia Type 32 |
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Cognitive impairment, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar a... |
ORPHA:276183 |
Parkinson Disease 14, Autosomal Recessive |
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Frontotemporal dementia, Aggressive behavior, Spasticity, Ankle clonus, Resting tremor, Parkinson... |
OMIM:612953 |
Combined Oxidative Phosphorylation Deficiency 45 |
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Tremor, Ataxia |
OMIM:618951 |
Spinocerebellar Ataxia Type 36 |
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Limb myoclonus, Truncal ataxia, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Dysmetria, Head ... |
ORPHA:276198 |
Glut1 Deficiency Syndrome 2 |
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Tremor, Choreoathetosis, Dystonia, Ataxia |
OMIM:612126 |
Parkinsonism With Polyneuropathy |
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Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:619279 |
Schimke Immuno-Osseous Dysplasia |
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Nephrotic range proteinuria, Stage 5 chronic kidney disease, Hemiparesis, Lumbar hyperlordosis, M... |
ORPHA:1830 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim... |
ORPHA:90117 |
Spinocerebellar Ataxia 4 |
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Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia, Babinski sign |
OMIM:600223 |
Crigler-Najjar Syndrome Type 1 |
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Tremor, Memory impairment |
ORPHA:79234 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Shuffling gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Lower limb spasticity, Broa... |
ORPHA:3077 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Aggressive behavior, Anxiety, Parkinsonism, Rigidity, Akinesia, Dementia, Spastic paraparesis, Tr... |
OMIM:300894 |
Spinocerebellar Ataxia 6 |
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Truncal ataxia, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Dysmetria, Slurred spee... |
OMIM:183086 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
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Short palpebral fissure, Spasticity, Neuropathic spinal arthropathy, Apraxia, Camptodactyly, Atax... |
ORPHA:397709 |
Adenine Phosphoribosyltransferase Deficiency |
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Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
Autosomal Dominant Spastic Paraplegia Type 9B |
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Spastic gait, Postural tremor, Spastic dysarthria, Progressive gait ataxia, Upper motor neuron dy... |
ORPHA:447757 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Ptosis, Spasticity, Focal segmental glomerulosclerosis |
OMIM:616239 |
Pelizaeus-Merzbacher Disease, Classic Form |
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