Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

MicroCT E18.5

Embryo reconstruction

4 Images

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, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysdiadochokinesis, Dysmetria, Limb dysmetria, Gait ataxia ORPHA:324262

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, Tremor, Ataxia, Slurred speech OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia, Scoliosis OMIM:176250
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia, Hypogonadotropic hypogonadism ORPHA:1180
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Spastic Paraplegia 72B, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia OMIM:620606
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired vibratory... ORPHA:98765
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Memory impairment, Dementia, Abnormal pyramida... ORPHA:85292
X-Linked Complicated Spastic Paraplegia Type 1
Upper motor neuron dysfunction, Cognitive impairment, Spastic paraplegia, Ataxia, Mental deterior... ORPHA:306617
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Dystonia 27
Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia ORPHA:94122
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ... ORPHA:464440
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Dystonia 22, Adult-Onset
Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr... OMIM:620456
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Tremor, Upper motor neuron dysfunction, Cognitive impairme... ORPHA:401901
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Spasticity, Rigidity ORPHA:2672
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Cognitive impairment, Ataxia OMIM:611105
Intellectual Developmental Disorder, Autosomal Recessive 64
Hypertonia, Reduced social reciprocity, Spasticity, Slurred speech OMIM:618103
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Spastic paraplegia, Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomer... OMIM:182690
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Myoclonus, Motor deterioration,... ORPHA:79262
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Roussy-Lévy Syndrome
Somatic sensory dysfunction, Babinski sign, Limb ataxia, Difficulty walking, Kyphoscoliosis, Impa... ORPHA:3115
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Oculorenocerebellar Syndrome
Choreoathetosis, Nephropathy, Glomerular sclerosis, Spastic diplegia OMIM:257970
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Autosomal Spastic Paraplegia Type 72
Spastic gait, Impaired vibration sensation at ankles, Memory impairment, Rigidity, Postural tremor ORPHA:401849
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia, Involuntary movements OMIM:620245
Spastic Paraplegia 18B, Autosomal Recessive
Babinski sign, Inability to walk, Lower limb spasticity, Scoliosis, Gait disturbance, Kyphosis, S... OMIM:611225
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Galloway-Mowat Syndrome 5
Spasticity, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria... OMIM:617731
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Unsteady gait, Spastic parap... ORPHA:423275
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti... OMIM:615573
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Gait disturbance, Dementia ORPHA:2274
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Depression, Dysdiadochokinesis, Head tremor, Actio... OMIM:604326
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Mental deterioration ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3
Limb ataxia, Lower limb spasticity, Depression, Spasticity, Rigidity, Upper limb spasticity, Loss... OMIM:620447
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Spasticity, Scoliosis, Focal segmental glomerulosclerosis, Nep... OMIM:301006
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Mental deterioration, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Unsteady gait, Reduced social reciprocity, EEG abnormality, Impaired ability to f... OMIM:608636
Spinocerebellar Ataxia Type 12
Bradykinesia, Limb dysmetria, Tremor by anatomical site, Poor fine motor coordination, Gait distu... ORPHA:98762
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Torticollis, Myoclonus OMIM:159900
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Memory impairment, Depression, Spasticity, Limb dystonia, Cognitive i... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cognitive impairment, Unsteady ga... OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Depression, Confusion, Tremor, Myocl... OMIM:615362
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Dystonia 23
Writer's cramp, Torticollis, Axial dystonia, Gait disturbance, Head tremor, Limb dystonia, Myoclonus OMIM:614860
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Distal sensory impairment, Claw hand deformity, Focal segmental glomerulosclerosis... OMIM:614455
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia... ORPHA:251282
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, P... ORPHA:210571
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Depression, Ataxia, Myoclonus, Attention deficit hyperactivity disorder, Dysm... OMIM:619191
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Migraine, Familial Hemiplegic, 1
Confusion, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity, Inability to walk OMIM:606053
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Cognitive impairment, Rigidity, ... ORPHA:98763
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia, Dementia OMIM:208700
Atypical Pantothenate Kinase-Associated Neurodegeneration
Irritability, Oromandibular dystonia, Depression, Chorea, Spasticity, Tremor, Upper motor neuron ... ORPHA:216873
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Dementia, Memory impairment, Progressive extrapyramidal mus... ORPHA:454887
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor OMIM:158580
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Rigidity, Dystonia, Parkinsonism, Dementia OMIM:605909
Dentatorubral-Pallidoluysian Atrophy
Dementia, Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Spasticity, I... ORPHA:284332
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Babinski sign, Tip-toe gait, Difficulty walking, Hoffmann sign, Lower limb spastici... OMIM:615681
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:600995
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Dystonia With Cerebellar Atrophy
Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis, Dystonia OMIM:611694
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Memory impairment, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait ... OMIM:213600
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Torsion dystonia, Involuntary movements, Dy... ORPHA:98811
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:314632
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia ORPHA:101075
Spinocerebellar Ataxia 48
Babinski sign, Irritability, Depression, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinson... OMIM:618093
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Cogni... OMIM:617145
Reni Syndrome
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Ptosis,... OMIM:617575
Huntington Disease-Like 2
Bradykinesia, Irritability, Memory impairment, Subcortical dementia, Chorea, Depression, Action t... OMIM:606438
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Renal tubul... OMIM:618349
Spastic Paraplegia-Nephritis-Deafness Syndrome
Paraplegia, Spasticity, Gait disturbance, Proteinuria, Nephropathy ORPHA:2820
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:161900
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Memory impairment, Depress... OMIM:605361
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Intervertebral s... OMIM:271630
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Dystonia 12
Bradykinesia, Torticollis, Depression, Emotional lability, Tremor, Dystonia, Unsteady gait, Parki... OMIM:128235
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Lichtenstein-Knorr Syndrome
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:616291
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia ORPHA:101078
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Recurrent myoglobinuria, Right hemiplegia, Tremor, Focal segmental glomerul... OMIM:607426
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Mental de... OMIM:615924
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Synophrys, Nephrotic syndrome, Head tremor, Ataxia, Proteinuri... OMIM:619428
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Progressive ... ORPHA:401820
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me... OMIM:616710
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Alternating Hemiplegia Of Childhood 2
Tetraplegia, Dystonia, Ataxia, Episodic quadriplegia, Hemiplegia, Choreoathetosis, Mental deterio... OMIM:614820
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:610725
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy... OMIM:619155
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria OMIM:615386
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch... ORPHA:53583
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Loss of subcutaneous adipose tissue from upper limbs, Nephrotic syndrome, Lipodystroph... OMIM:613913
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Babinski sign, Ankle flexion contracture, Distal sensory impairment, Positive Rom... OMIM:616668
Epilepsy, Progressive Myoclonic, 11
Rigidity, Ataxia, Myoclonus, Intention tremor OMIM:618876
Autism
EEG abnormality, Impaired ability to form peer relationships OMIM:209850
Autism, Susceptibility To, 8
EEG abnormality, Impaired ability to form peer relationships OMIM:607373
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Scholte Syndrome
Kyphoscoliosis, Upslanted palpebral fissure, Reduced subcutaneous adipose tissue, Epicanthus, Abn... OMIM:300977
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Cognitive impairm... OMIM:615528
Huntington Disease-Like 1
Depression, Chorea, Incoordination, Rigidity, Unsteady gait, Dementia, Mania, Dysmetria OMIM:603218
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Gait instability, worse in the dark, Impaired distal propriocep... OMIM:608984
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Depression, Truncal ataxia, Tremor,... ORPHA:98764
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Intention tremor,... OMIM:620453
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Mesangial hypercellularity, Focal segmental glomerulosclerosis OMIM:620425
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Gait ataxia, Nephrotic syndrome,... OMIM:254900
Hyperphenylalaninemia, Bh4-Deficient, C
Irritability, Hypertonia, Tremor, Dystonia, Progressive neurologic deterioration, Myoclonus, Chor... OMIM:261630
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Gait ataxia, Intention tremor, Dysmetria OMIM:613728
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Primary amenorrhea, Stage 5 ... OMIM:136680
Galloway-Mowat Syndrome 4
Spasticity, Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome... OMIM:617730
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Memory impairment, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor,... ORPHA:453521
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced renal corticomed... OMIM:603278
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Chorea, Athetosis, Cognitive impairment, Parkinsonism, Dementia, P... OMIM:615483
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Memory impairment, Depression, Tremor, Parkinsonism with favorable response ... ORPHA:240085
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Dementia, Falls, Truncal ataxia, Gait disturbance, Action myoclonus, Progressive neu... OMIM:616230
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Chorea, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401835
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Inability to walk, Spasticity, Tremor, Ptosis, Joint contracture, Dystonia, Chore... OMIM:617664
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Memory impairment, Progressive extrapyramidal muscular rigid... ORPHA:240103
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Cogni... OMIM:607346
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vibratory sensation OMIM:620221
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Gait ataxia OMIM:604432
Spastic Paraplegia 20, Autosomal Recessive
Spastic gait, Babinski sign, Kyphoscoliosis, Difficulty walking, Impaired vibration sensation at ... OMIM:275900
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria, Podocyte foot process effacement OMIM:617006
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
X-Linked Progressive Cerebellar Ataxia
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Dysdiadochokinesis... ORPHA:1175
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Frasier Syndrome
Glomerulopathy, Focal segmental glomerulosclerosis, Hypergonadotropic hypogonadism, Nephrotic syn... ORPHA:347
3-Methylglutaconic Aciduria, Type Iii
Babinski sign, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Cognitive impair... OMIM:258501
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Flexion contracture of digit, Thoracic kyphosis, Upslanted palpebral fissure, Red... ORPHA:3041
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Depression, Tremor, Cognitiv... OMIM:616795
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Short attention span, Ataxia, Myoclonus, Impaired tandem gait, Dys... OMIM:619028
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Tongue fasciculations, Scoliosis, Organic aciduria, Ataxia, Clumsiness OMIM:614707
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Emotional lability, Depression, Craniofacial dystonia,... ORPHA:71517
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tip-toe gait, Babinski sign, Kyphoscoliosis, Lower limb spasticity, Knee flexion contracture, Pro... ORPHA:496689
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Kyphoscoliosis, Apraxia, Resting tremor, Scoliosis, Tr... OMIM:300055
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Ankle clonus, Upper lim... OMIM:614409
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Kyphoscoliosis OMIM:271200
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:607565
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Depression, Chorea, Confusion, Positive Rom... OMIM:607136
Wernicke-Korsakoff Syndrome
Confusion, Ataxia, Delirium, Memory impairment OMIM:277730
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Memory impairment, Chorea, Mental deterioration, Dystonia, Ataxia, Parkinsonism, Ab... OMIM:618317
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Galloway-Mowat Syndrome 7
Kyphoscoliosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic ... OMIM:618348
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Epicanthus, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Increased vertebral height, Abnormal vertebral morphology, Truncal ataxia, Spasti... OMIM:616817
Phenylketonuria
Lower limb spasticity, Depression, Tremor, Short attention span, Ataxia, Dementia ORPHA:716
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Loss of truncal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue from ... OMIM:608709
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Involuntary movements, Reduced social reciprocity, EEG abnormality OMIM:617820
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Subcortical dementia, Chorea, Spasticity, Tremor, Bl... OMIM:606159
Galactosemia I
Premature ovarian insufficiency, Galactosuria, Hypergonadotropic hypogonadism, Increased level of... OMIM:230400
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Motor deterioration, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clum... OMIM:256731
Valinemia
Hyperkinetic movements, Valinuria OMIM:277100
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Detrusor sphincter dyssynergia, Babinski sign, Urinary incontinence, Kyphoscoliosis... ORPHA:466722
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Scoliosis, Tremor, Gait disturbance, Paraparesis, Kyphosis, Ataxia ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Short palpebral fissure, Babinski sign, Inability to walk, Apraxia, Spasticity, S... OMIM:616354
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, I... OMIM:616127
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Dystonia 16
Bradykinesia, Generalized dystonia, Retrocollis, Gait disturbance, Involuntary movements, Cogniti... OMIM:612067
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Babinski sign, Hypertonia, Urinary incontinence, Difficulty walking, Distal sensory impairment, F... OMIM:616688
Spinocerebellar Ataxia 50
Apraxia, Memory impairment, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Hyperekplexia 4
Kyphoscoliosis, Hypertonia, Inguinal hernia, Myoclonus, Camptodactyly, Flexion contracture, Dista... OMIM:618011
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Urinary incontinence, Lower limb spasticity, Broad-based gait, Urinary bladder sphi... ORPHA:306511
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Action tremor, Upper limb postural tremor OMIM:180800
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis, Spasticity, Cerebral palsy, Dystonia, Unsteady gait OMIM:301107
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Frequent falls, Short neck OMIM:300718
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Clonus, Spastic paraplegia, Lower limb hypertonia, Kyphosis, Impaired vibratory... OMIM:614898
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Oculomotor apraxia, Chorea, Loss of ambulation, Ataxia, Generalized dystonia, Chore... OMIM:620427
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Almond-shaped palpebral fissure, Diffuse mesangial sclerosis,... OMIM:619603
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Chronic kidne... ORPHA:656
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Co... ORPHA:98773
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Spastic Paraplegia 70, Autosomal Recessive
Fasciculations, Spasticity, Scoliosis, Achilles tendon contracture, Ankle clonus, Somatic sensory... OMIM:620323
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Gait ataxia OMIM:620174
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Scoliosis, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity... OMIM:611555
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Dystonia, Ataxia OMIM:615159
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Inability to walk, Spasticity, Spastic paraplegia, Joint contracture, Spastic tet... OMIM:617977
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Dystonia 31
Abnormal posturing, Difficulty walking, Parkinsonism OMIM:619565
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Hand tremor, Paroxysmal dystonia, Myoclonus OMIM:608105
Imerslund-Grasbeck Syndrome 2
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Moderate albuminuria OMIM:618882
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Gait dist... ORPHA:157941
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ... ORPHA:504476
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Spastic paraplegia, Impaired vibratory se... ORPHA:100988
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Congenital nephrotic syndrome, Renal tubular atrophy, Proteinuria, Diffuse ... OMIM:256300
Gordon Holmes Syndrome
Dementia, Secondary amenorrhea, Chorea, Oligomenorrhea, Ataxia, Primary amenorrhea, Hypogonadotro... OMIM:212840
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Nemaline Myopathy 7
Kyphoscoliosis, Waddling gait, Gait disturbance, Frequent falls, Knee flexion contracture, Lumbar... OMIM:610687
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Myoclonus, Poor fine motor coordination, Cognitive impairment, Myoclo... ORPHA:79263
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Scoliosis, Involuntary moveme... OMIM:618218
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, Hypergonadotropic hypogonadism ORPHA:88637
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Leukoencephalopathy With Calcifications And Cysts
Emotional lability, Spasticity, Tremor, Gait disturbance, Cognitive impairment, Dystonia, Ataxia,... ORPHA:542310
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Spinal rigidity, Lower limb spasticity, Scoliosis, Hyperlordosis, Gait disturbance,... OMIM:617404
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Short palpebral fissure, Inguinal hernia, Telecanthus, Shoulder flexion contractu... OMIM:277720
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Babinski sign, Inability to walk, Spasticity, Nephrocalcinosis, Flexion contractu... OMIM:617105
Cednik Syndrome
Nephrotic syndrome, Downslanted palpebral fissures, Ataxia, Proteinuria, Hypogonadism ORPHA:66631
Spinocerebellar Ataxia 49
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Ataxia, Unsteady... OMIM:619806
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Lower limb spasticity, Broad-based gait, Scoliosis, Waddling gait, Kyphosis, A... OMIM:616756
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Intention tremor, ... ORPHA:352403
Spinocerebellar Ataxia, Autosomal Recessive 8
Limb ataxia, Abnormality of extrapyramidal motor function, Spasticity, Scoliosis, Kyphosis, Gait ... OMIM:610743
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre... OMIM:117360
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Dementia, Memory impairment, Apraxia, Truncal ataxia, Spasticity, Trem... OMIM:137440
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Impai... OMIM:208920
Foxg1 Syndrome
Kyphoscoliosis, Difficulty walking, Hyperkinetic movements, Inability to walk, Spasticity, Scolio... ORPHA:561854
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Leukoencephalopathy, Progressive, With Ovarian Failure
Babinski sign, Apraxia, Depression, Spasticity, Dystonia, Ataxia, Dementia, Hand tremor OMIM:615889
Spinocerebellar Ataxia 32
Infertility, Ataxia, Testicular atrophy, Azoospermia OMIM:613909
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis, Distal sensory impairment, Gait imbalance, Spontaneous pain sensation, Sensory at... ORPHA:101081
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Dementia, Abnormal pyramidal sign OMIM:260540
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... OMIM:610185
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Depression, Chorea, ... ORPHA:248111
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Distal sensory impairment, Kyphosis OMIM:617087
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Inability to walk, Congenital contracture, Dystonia, Myoclonus, Spastic t... OMIM:618285
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Tremor, Hyperlordosis, Gait disturbance, Nephrotic syndrome, Proteinuria, Nephropathy ORPHA:1192
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Autosomal Recessive Spastic Paraplegia Type 23
Spastic gait, Kyphoscoliosis, Waddling gait, Spastic paraplegia, Horseshoe kidney ORPHA:101003
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Caribbean Parkinsonism
Bradykinesia, Dementia, Apraxia, Frontal lobe dementia, Action tremor, Rigidity, Dystonia, Parkin... ORPHA:97355
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Tremor, Waddling gait, Inability to walk OMIM:616269
Proteus Syndrome
Kyphoscoliosis, Lipoma, Ptosis, Downslanted palpebral fissures, Spinal canal stenosis, Cerebrifor... OMIM:176920
C3 Glomerulopathy
Acute kidney injury, Hematuria, Nephrotic syndrome, Lipodystrophy, Proteinuria, Chronic kidney di... ORPHA:329918
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Progressive psychomotor deterioration, Oculomotor apraxia, Spasticity, Tremor, Poor motor coordin... ORPHA:1170
Aicardi-Goutieres Syndrome 9
Hypertonia, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Spasti... OMIM:619487
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Memory impairment, Falls, Depression, Emotional lability, Tremor, Ble... ORPHA:683
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Cognitive impairment, Rigidity, Ataxia, Dementia, Somatic sensory dysfu... OMIM:603472
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Microscop... ORPHA:567546
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Waddling gait, Limb myoclonus, F... ORPHA:2590
Masa Syndrome
Lower limb spasticity, Paraplegia, Hyperlordosis, Shuffling gait, Kyphosis, Spastic paraplegia OMIM:303350
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Dysdiadochokinesis, Gait ataxia, Intention tremor, Cognitive impairment, Atax... ORPHA:208513
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Upper motor neuron dysfunction... OMIM:600224
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Memory impairment, Resting tremor, Depression, Poor fine motor coordination, Dysdia... OMIM:300623
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Dystonia 9
Episodic ataxia, Cognitive impairment, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Cho... OMIM:601042
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormal vertebral morphology, Abnormality of the vertebral column, Truncal ataxia, Head titubati... OMIM:250620
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Spasticity, Tremor, Mental d... OMIM:609260
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Pro... ORPHA:254881
Seckel Syndrome 8
Kyphoscoliosis, Ectopic kidney OMIM:615807
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Abnormality of the kidney, Abnormality of the vertebral column, Paraparesis, Urin... ORPHA:53721
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Kyphosis, Clonus, Impaired vibratory sensation, Upper limb hypertonia ORPHA:319199
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Park... OMIM:261640
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Inability to walk, Spasticity, Gait disturbance, Frequent falls... ORPHA:216866
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary biopterin level, Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dys... OMIM:233910
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Hemolytic-uremic syndrome, Kyphoscoliosis OMIM:614727
Perry Syndrome
Abnormality of extrapyramidal motor function, Depression, Tremor, Parkinsonism, Dementia ORPHA:178509
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Vertebral wedging, Waddling gait, Platyspondyly OMIM:616583
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Tremor, Blepharospasm, Cognitive impairment, Ataxia, Myoclonus OMIM:607876
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... OMIM:271530
Spinocerebellar Ataxia Type 17
Torticollis, Writer's cramp, Chorea, Spasticity, Blepharospasm, Gait disturbance, Involuntary mov... ORPHA:98759
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Downslanted palpebral fissures, Shuffling gait, Atlantoaxial abnormality ORPHA:3433
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Spasticity, Camptodactyly, Nephrotic syndrome, Downslanted palpebral fissur... OMIM:617729
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Myoclonus, Diffuse mesangial sclerosis, Stage 5 ch... OMIM:619609
Dystonia 6, Torsion
Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Hip contracture, Ankle con... OMIM:620386
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Retinal capillary hemangioma, Elevated urinary epinephrine level... ORPHA:29072
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Distal sensory impairment, Inability to walk, Unsteady gait, Postural tremor, Som... ORPHA:99950
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired temperature sensation, Fasciculations, Impaired pain sensation, Scoliosi... OMIM:619574
Saccharopinuria
Distal sensory impairment, Tremor, Gait ataxia, Cognitive impairment, Mental deterioration, Spast... ORPHA:3124
Primary Dystonia, Dyt4 Type
Kyphoscoliosis, Torticollis, Dysdiadochokinesis, Blepharospasm, Gait disturbance, Involuntary mov... ORPHA:98805
Ichthyosis--Cheek--Eyebrow Syndrome
Sparse lateral eyebrow, Kyphoscoliosis OMIM:146720
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Gait ataxia, Limb myoclonus, Somatic sensory dysfunction,... OMIM:619862
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, Ataxia, Poor coordination, Attention deficit hyperactivity disorder OMIM:617665
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Gait disturbance, Rigidity, Myoclo... OMIM:616981
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Tip-toe gait, Babinski sign, Steppage gait, Lower limb spasticity, Broad-based gait, Fasciculatio... OMIM:615290
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Irritability, Difficulty walking, Lower limb spasticity, Impaired tactile sensat... ORPHA:206443
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Writer's cramp, Torticollis, Dystonia, Myoclonus, Limb myoclonus ORPHA:36899
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Kyphoscoliosis, Spasticity, Gait disturbance, Back pain, Hemiparesis, Rigidity, Spastic ataxia, A... ORPHA:199354
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Sneddon Syndrome
Memory impairment, Chorea, Tremor, Hemiparesis, Dementia, Mental deterioration ORPHA:820
Autosomal Recessive Spastic Paraplegia Type 9B
Spastic gait, Babinski sign, Tip-toe gait, Kyphoscoliosis, Impaired vibration sensation at ankles... ORPHA:447760
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis, Somatic sen... ORPHA:101077
Hsd10 Disease
Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Elevated urinary 3-hy... ORPHA:391417
Ataxia With Vitamin E Deficiency
Hypertonia, Mental deterioration, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemipa... ORPHA:96
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Nephrotic syndrome, Mild proteinuria, Focal segmental glomerulosclerosis OMIM:301108
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Congenital Myopathy 23
Kyphoscoliosis, Difficulty walking, Waddling gait, Flexion contracture OMIM:609285
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Inability to walk, Telecanthus, Focal segmental glomerulosclerosis, Long eyelash... OMIM:617303
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Irritability, Progressive cerebellar ataxia, Spastic dysarthria, Spa... ORPHA:282166
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis ORPHA:329284
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Diffu... OMIM:615244
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Frontotemporal dementia, Ankle clonus, Resti... OMIM:612953
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Secondary amenorrhea, Lumbar scoliosis, Irregular vertebral endplates, Platyspondyly OMIM:612847
Combined Saposin Deficiency
Fasciculations, Babinski sign, Hyperkinetic movements, Myoclonus OMIM:611721
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Spasticity, Tremor, Rigidity, Progressive neurologic deterioration, Dementia OMIM:176500
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia