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Gene: Grm1 MGI:1351338

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Gene Summary

Name:
glutamate receptor, metabotropic 1
Synonyms:
mGluR1,  Grm1,  rcw,  Gprc1a,  4930455H15Rik,  nmf373

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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MicroCT E18.5

Embryo reconstruction

4 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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Human diseases caused by Grm1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Grm1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 44
Gait ataxia, Spasticity, Dysdiadochokinesis, Delayed speech and language development, Ataxia, Dys... OMIM:617691
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Gait ataxia, Dysdiadochokinesis, Absent speech, Dysmetria, Limb dysmetria ORPHA:324262
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Ataxia, Dysmetria, T... OMIM:614831

The table below shows human diseases predicted to be associated to Grm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Glomerulopathy, Renal insufficiency, Ataxia, Proteinuria ORPHA:225
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Rigidity, Dementia, Tremor, Progressive neurologic deterioration, Hypertonia OMIM:176500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Knee flexion contracture, Hyperlordosis, Hip contracture, Tip-toe gait, Kyphosis, Achilles tendon... OMIM:615290
Autosomal Recessive Ataxia, Beauce Type
Urinary incontinence, Spasticity, Ankle clonus, Kyphosis, Clumsiness, Gait disturbance, Upper mot... ORPHA:88644
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Lumbar scoliosis, Secondary amenorrhea, Kyphoscoliosis, Platyspondyly OMIM:612847
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Autosomal Recessive Spastic Paraplegia Type 9B
Spasticity, Impaired vibration sensation at ankles, Tip-toe gait, Pollakisuria, Spastic gait, Uri... ORPHA:447760
Hereditary Pheochromocytoma-Paraganglioma
Renal cell carcinoma, Retinal capillary hemangioma, Elevated urinary epinephrine, Hematuria, Glom... ORPHA:29072
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Flexion contracture, Inability to walk, Nephrotic syndrome, Epicanthus, En... OMIM:617303
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Aggressive behavior, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Anxiety, Hy... OMIM:619738
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis, Dystonia, Difficulty walking, Ataxia OMIM:616684
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Chorea, Bradykinesia, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myocl... ORPHA:282166
Nemaline Myopathy 4
Kyphoscoliosis, Flexion contracture, Difficulty walking, Waddling gait OMIM:609285
Combined Saposin Deficiency
Hyperkinetic movements, Myoclonus, Fasciculations, Babinski sign OMIM:611721
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Ataxia, Dysmetria, T... OMIM:614831
Spinocerebellar Ataxia 2
Urinary incontinence, Spasticity, Urinary bladder sphincter dysfunction, Dysdiadochokinesis, Post... OMIM:183090
Thyrocerebrorenal Syndrome
Myoclonus, Nephritis, Slurred speech, Renal insufficiency, Nonprogressive cerebellar ataxia ORPHA:3327
Spinocerebellar Ataxia Type 32
Cognitive impairment, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar a... ORPHA:276183
Parkinson Disease 14, Autosomal Recessive
Frontotemporal dementia, Aggressive behavior, Spasticity, Ankle clonus, Resting tremor, Parkinson... OMIM:612953
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Spinocerebellar Ataxia Type 36
Limb myoclonus, Truncal ataxia, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Dysmetria, Head ... ORPHA:276198
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Dystonia, Ataxia OMIM:612126
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Hemiparesis, Lumbar hyperlordosis, M... ORPHA:1830
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim... ORPHA:90117
Spinocerebellar Ataxia 4
Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia, Babinski sign OMIM:600223
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment ORPHA:79234
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Lower limb spasticity, Broa... ORPHA:3077
Neurodegeneration With Brain Iron Accumulation 5
Aggressive behavior, Anxiety, Parkinsonism, Rigidity, Akinesia, Dementia, Spastic paraparesis, Tr... OMIM:300894
Spinocerebellar Ataxia 6
Truncal ataxia, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Dysmetria, Slurred spee... OMIM:183086
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Short palpebral fissure, Spasticity, Neuropathic spinal arthropathy, Apraxia, Camptodactyly, Atax... ORPHA:397709
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Autosomal Dominant Spastic Paraplegia Type 9B
Spastic gait, Postural tremor, Spastic dysarthria, Progressive gait ataxia, Upper motor neuron dy... ORPHA:447757
Combined Oxidative Phosphorylation Deficiency 24
Ptosis, Spasticity, Focal segmental glomerulosclerosis OMIM:616239
Pelizaeus-Merzbacher Disease, Classic Form