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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

Order Alleles

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.

Phenotype associated images not available

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
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysdiadochokinesis, Limb dysmetria, 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
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis OMIM:176250
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia, Hypogonadotropic hypogonadism ORPHA:1180
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... ORPHA:85292
X-Linked Complicated Spastic Paraplegia Type 1
Ataxia, Spastic paraplegia, Cognitive impairment, Mental deterioration, Upper motor neuron dysfun... ORPHA:306617
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Hereditary Geniospasm
EEG abnormality, Abnormal social behavior, Chin myoclonus, Intention tremor ORPHA:53372
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... ORPHA:401901
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, 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
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia OMIM:601238
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Hypertonia, Ataxia ORPHA:2672
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor ORPHA:94122
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:615625
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Intellectual Developmental Disorder, Autosomal Recessive 64
Spasticity, Hypertonia, Slurred speech, Impaired social interactions OMIM:618103
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, Spastic paraplegia, IgA deposition in the glomer... OMIM:182690
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... ORPHA:79262
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy, Spastic diplegia, Choreoathetosis OMIM:257970
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... ORPHA:3115
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Autosomal Spastic Paraplegia Type 72
Postural tremor, Rigidity, Memory impairment, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Galloway-Mowat Syndrome 5
Epicanthus, Proteinuria, Ataxia, Stage 5 chronic kidney disease, Focal segmental glomeruloscleros... OMIM:617731
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Ataxia, Gait disturbance ORPHA:2274
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity ORPHA:309169
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Dysmetria, Nephro... OMIM:301006
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Cognitive impairme... OMIM:615768
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Ataxia, Tremor, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at... ORPHA:101109
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... OMIM:615362
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Claw hand deformity, Stage 5 chronic kidney disease, Distal sensory impairment, Foca... OMIM:614455
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Myoclonus, Attention deficit hyperactivity disorder, Difficulty wa... OMIM:619191
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Chromosome 15Q11-Q13 Duplication Syndrome
Unsteady gait, Impaired ability to form peer relationships, EEG abnormality, Impaired social inte... OMIM:608636
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Focal dystonia, Irri... ORPHA:216873
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Dementia, Ataxia, Myoclonus OMIM:208700
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:605909
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonus, Dystonia OMIM:125370
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... ORPHA:284332
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia OMIM:611694
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... ORPHA:98811
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Gait ataxia OMIM:618221
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Ataxia, Mesangial hypercellularity, Cryptorchidism, Sta... OMIM:617575
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions OMIM:606053
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dy... OMIM:617145
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis ORPHA:101075
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia, Irritabi... OMIM:618093
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Spinocerebellar Ataxia Type 35
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... ORPHA:276193
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Paraplegia, Gait disturbance, Nephropathy, Spasticity ORPHA:2820
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor OMIM:608029
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Scholte Syndrome
Reduced subcutaneous adipose tissue, Epicanthus, Kyphoscoliosis, Abnormal pyramidal sign, Upslant... OMIM:300977
Spinocerebellar Ataxia 14
Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Focal dystonia, Attention defi... OMIM:605361
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... OMIM:128235
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Lichtenstein-Knorr Syndrome
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ... OMIM:617284
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Ataxia, Hypergonadotropic hypogonadism, Tremor, Nephrotic s... OMIM:607426
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerulonephritis, Ataxia, Synophrys, Nephrotic syndrome, Head tremor,... OMIM:619428
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ... ORPHA:401820
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,... OMIM:615924
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Parkinsonism with... OMIM:616710
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Mental deterioration, Hemi... OMIM:614820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... OMIM:615008
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 14
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor OMIM:615386
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Increased urinary disaccharide excretion, Irregular verteb... OMIM:271630
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... OMIM:613913
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Postural tremor, Kyphoscoliosis, Ankle flexion contracture, Babinski sign, Distal sensory impairm... OMIM:616668
Epilepsy, Progressive Myoclonic, 11
Rigidity, Ataxia, Myoclonus, Intention tremor OMIM:618876
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... ORPHA:98764
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Depression, Dementia, Mania OMIM:603218
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros... OMIM:136680
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu... OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor OMIM:613728
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Cognitive impairment, ... OMIM:601042
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... ORPHA:453521
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady gait, ... OMIM:254900
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Tremor, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... ORPHA:240085
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Limb ataxia, Choreoathetosis, Dementia, Gait disturbance, M... OMIM:616230
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment OMIM:614018
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... ORPHA:284324
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... OMIM:615483
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... ORPHA:95434
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... ORPHA:240103
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Joint contracture, ... OMIM:617664
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc... OMIM:607346
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor OMIM:620221
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Spinocerebellar Ataxia 11
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia OMIM:604432
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Epicanthus, Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Cryptorchi... OMIM:616817
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Kyphoscoliosis, Clumsiness, Organic aciduria, Tongue fasciculations, Scoliosis OMIM:614707
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Kyphoscoliosis, Babinski sign, Spastic paraplegia, Flexion contracture, Dy... OMIM:275900
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Neurogenic bladder, Paroxysmal dystonia, Detrusor sphincter dyssynergia, U... ORPHA:466722
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
X-Linked Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... ORPHA:1175
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Epicanthus, Lumbar hyperlordosis, Thoracolumbar scoliosis, K... ORPHA:3041
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression... OMIM:616795
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P... ORPHA:347
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Cognitive impairment... OMIM:258501
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Babinski sign... OMIM:300055
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Coenzyme Q10 Deficiency, Primary, 9
Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo... OMIM:619028
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, Limb dystonia, ... ORPHA:71517
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Urinary incontinence, Kyphosis, Babinski sig... OMIM:614409
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Impaired proprioception, Dysm... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Epicanthus, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Wernicke-Korsakoff Syndrome
Memory impairment, Delirium, Ataxia, Confusion OMIM:277730
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Kyphoscoliosis, Minimal change glomerulonephritis, Stag... OMIM:618348
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Kyphoscoliosis OMIM:271200
Spastic Paraplegia, Ataxia, And Mental Retardation
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vibration sensation in... OMIM:607565
Spinocerebellar Ataxia 17
Broad-based gait, Dystonia, Ataxia, Confusion, Parkinsonism, Rigidity, Chorea, Dysmetria, Depress... OMIM:607136
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala... OMIM:230400
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive... OMIM:608709
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Valinemia
Valinuria, Hyperkinetic movements OMIM:277100
Spinocerebellar Ataxia, Autosomal Recessive 20
Epicanthus, Ataxia, Kyphoscoliosis, Inability to walk, Babinski sign, Oligosacchariduria, Camptod... OMIM:616354
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Hyperekplexia 4
Inguinal hernia, Kyphoscoliosis, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonu... OMIM:618011
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation, Mo... OMIM:256731
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Gait disturbance, Scoliosis ORPHA:99014
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Limb ataxi... OMIM:616127
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Incoordination, Ataxia, Urinary incontinence, Impaired distal proprioception, Impaired distal vib... OMIM:616688
Gordon Holmes Syndrome
Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary amenorrhea, Dementia... OMIM:212840
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor OMIM:620158
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Myoclonus, U... ORPHA:306511
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Action tremor OMIM:180800
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Intellectual Developmental Disorder, X-Linked 111
Cerebral palsy, Kyphoscoliosis, Unsteady gait, Dystonia, Spasticity OMIM:301107
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Scolio... OMIM:611555
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Hiatus hernia, Almond-shaped palpebral fissure, Stage 5 chronic kidn... OMIM:619603
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis, Frequent falls OMIM:300718
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Spastic Paraplegia 70, Autosomal Recessive
Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, Fasciculations, Scoliosis... OMIM:620323
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Hyperlordosis, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturba... ORPHA:1192
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Joint contracture, Sp... OMIM:617977
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor function, Dystonia OMIM:615159
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Lower limb spasticity, Kyphoscoliosis, Babinski sign, Knee flexion contracture, Tip-toe gait, Pro... ORPHA:496689
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Dystonia 31
Abnormal posturing, Parkinsonism, Difficulty walking OMIM:619565
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para... ORPHA:100988
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Bradykines... ORPHA:157941
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture, Gait disturbance, ... OMIM:610687
Baker-Gordon Syndrome
Epicanthus, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movem... OMIM:618218
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Hyperlordosis, Spinal rigidity, Kyphosis, Tip-toe gait, Gait disturbance, ... OMIM:617404
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Inability to walk, Babinski sign, Flexion contracture, Nephrocalcinosis, Tetrapar... OMIM:617105
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Spinocerebellar Ataxia 49
Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Dementia, Abnormality of ext... OMIM:619806
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Whistling Face Syndrome, Recessive Form
Telecanthus, Epicanthus, Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Short nec... OMIM:277720
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Inability t... OMIM:616756
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Cednik Syndrome
Ataxia, Proteinuria, Nephrotic syndrome, Hypogonadism, Downslanted palpebral fissures ORPHA:66631
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidne... ORPHA:567546
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at... ORPHA:352403
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Gait disturbance, Gait imbalance, Pare... ORPHA:101081
Spinocerebellar Ataxia 32
Azoospermia, Ataxia, Infertility, Testicular atrophy OMIM:613909
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... OMIM:117360
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Abnormal synaptic trans... ORPHA:683
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor function, Scol... OMIM:610743
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Impaired distal vibration sensation, Limb a... OMIM:208920
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Emotional lability, Depression, Gait ataxia, Bradyki... OMIM:137440
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, Ataxia ORPHA:88637
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Babinski sign, Hand tremor, Depression, Dementia, Dystonia, Spasticity, Apraxia OMIM:615889
Foxg1 Syndrome
Dystonia, Kyphoscoliosis, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, ... ORPHA:561854
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... ORPHA:542310
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Depression, Irritability, Bradykinesia, ... ORPHA:248111
Trisomy X
Epicanthus, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Secondary amenorrhea,... ORPHA:3375
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Difficulty walking, Distal sensory impairment OMIM:617087
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... OMIM:618285
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... ORPHA:240094
Aicardi-Goutieres Syndrome 9
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Spastic tetraparesis, Stage... OMIM:619487
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Autosomal Recessive Spastic Paraplegia Type 23
Waddling gait, Kyphoscoliosis, Spastic paraplegia, Horseshoe kidney, Spastic gait ORPHA:101003
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Epicanthus, Dystonia, Ataxia, Head titubation, Dysmetria, Aminoaciduria, Abnormality of the verte... OMIM:250620
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Emotional lability, Waddling gait, Inability to walk OMIM:616269
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... ORPHA:1170
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... ORPHA:276621
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impa... OMIM:603472
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... ORPHA:329918
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait OMIM:303350
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Spinocerebellar Ataxia Type 29
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Oculomotor apraxia, Int... ORPHA:208513
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysmetria, Gait ataxia, L... OMIM:600224
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Proteus Syndrome
Kyphoscoliosis, Spinal canal stenosis, Multiple lipomas, Lipoma, Limbal dermoid, Downslanted palp... OMIM:176920
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Mental deterioration... OMIM:609260
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Kyphoscoliosis, Paraparesis, Cutaneous angiolipomas, Abnormality of th... ORPHA:53721
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Seckel Syndrome 8
Kyphoscoliosis, Ectopic kidney OMIM:615807
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... ORPHA:254881
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia ORPHA:319199
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Ir... OMIM:261640
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Sh... ORPHA:3077
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Congenital Disorder Of Glycosylation, Type Iik
Hemolytic-uremic syndrome, Kyphoscoliosis, Amelogenesis imperfecta OMIM:614727
Perry Syndrome
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function ORPHA:178509
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor... ORPHA:98759
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Atlantoaxial abnormality, Downslanted palpebral fissures, Shuffling gait, Kyphoscoliosis ORPHA:3433
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies OMIM:616583
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Myoclonus, Podocyte foo... OMIM:619609
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Inability to walk, Unsteady gait, D... ORPHA:99950
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... ORPHA:29072
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ... OMIM:619574
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Epicanthus, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disea... OMIM:617729
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Opisthotonus, Increased susceptibility to fractures, Weigh... ORPHA:216866
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment, Cognitive impairment, Mental de... ORPHA:3124
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet... OMIM:233910
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Scoliosis... OMIM:620386
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... OMIM:616981
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis, Sparse lateral eyebrow OMIM:146720
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Upper limb postural tre... ORPHA:98805
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Achilles tendon contracture, Tip-toe gait, Difficulty walking, Frequent falls ORPHA:370980
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Allan-Herndon-Dudley Syndrome
Ataxia, Kyphoscoliosis, Cryptorchidism, Babinski sign, Abnormal pyramidal sign, Spastic tetrapleg... ORPHA:59
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Schimke Immunoosseous Dysplasia
Waddling gait, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Sh... OMIM:242900
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Autosomal Recessive Spastic Paraplegia Type 9B
Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Pollakisuria, Tip-toe gait, Urinary ... ORPHA:447760
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia ORPHA:225
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Action tremor OMIM:617665
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Spastic ataxia, Somatic sensory dysfunction, Kyphoscoliosis, Rigidity, Abnormal pyrami... ORPHA:199354
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urina... ORPHA:391417
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment ORPHA:820
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at... ORPHA:276183
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal... ORPHA:2590
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Lower limb spasticity, Broad-based gait, Hip contracture, Hyperlordosis, Kyphosis,... OMIM:615290
Mucopolysaccharidosis-Plus Syndrome
Epicanthus, Telecanthus, Proteinuria, Short neck, Inability to walk, Synophrys, Flexion contractu... OMIM:617303
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Hypospadias, Cryptorchidism, Unsteady gait, Upslanted palpebral fissure, Aminoaciduri... OMIM:214100
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Congenital Myopathy 23
Waddling gait, Difficulty walking, Flexion contracture, Kyphoscoliosis OMIM:609285
Combined Saposin Deficiency
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements OMIM:611721
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis ORPHA:329284
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athet... ORPHA:280219
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity OMIM:176500
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis OMIM:612847
Spinocerebellar Ataxia 2