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Gene: Grm1 MGI:1351338

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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lacZ Expression

Expression data not available

Associated Images

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

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MicroCT E18.5

Embryo reconstruction

4 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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Human diseases caused by Grm1 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Inability to walk, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysm... OMIM:614831
Spinocerebellar Ataxia 44
Spasticity, Frequent falls, Ataxia, Dysdiadochokinesis, Gait ataxia, Dysmetria OMIM:617691
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Gait ataxia, Dysmetria, Limb dysmetria, Dysdiadochokinesis 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, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Posterior Column Ataxia
Scoliosis, Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Episodic Ataxia, Type 1
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism, Ataxia ORPHA:1180
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinocerebellar Ataxia Type 4
Gait disturbance, Ataxia, Motor deterioration, Impaired proprioception, Impaired vibratory sensat... ORPHA:98765
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking, Postural tremor, Deme... ORPHA:85292
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
X-Linked Complicated Spastic Paraplegia Type 1
Ataxia, Cognitive impairment, Mental deterioration, Spastic paraplegia, Upper motor neuron dysfun... ORPHA:306617
Spinocerebellar Ataxia 40
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, D... OMIM:616053
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Episodic Ataxia, Type 8
Episodic ataxia, Intention tremor, Slurred speech, Ataxia OMIM:616055
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Myoclonus, Action tremor OMIM:614937
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Nephrotic Syndrome, Type 18
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:301028
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Focal Segmental Glomerulosclerosis 8
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia, Abnormality of extrapy... OMIM:614561
Hereditary Geniospasm
EEG abnormality, Intention tremor, Chin myoclonus, Abnormal social behavior ORPHA:53372
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Progressive spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia 43
Distal sensory impairment, Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Cerebellar Ataxia, Cayman Type
Gait ataxia, Intention tremor, Truncal ataxia, Broad-based gait OMIM:601238
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Somatic sensory dysfunction, Difficulty walking ORPHA:423296
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Hypertonia, Rigidity, Ataxia ORPHA:2672
Cerebellar Ataxia, Cayman Type
Nonprogressive cerebellar ataxia, Broad-based gait, Gait ataxia, Intention tremor, Truncal ataxia ORPHA:94122
Lipoprotein Glomerulopathy
Renal insufficiency, Proteinuria, Glomerulopathy, Mesangial hypercellularity OMIM:611771
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spastic Paraplegia 72, Autosomal Recessive
Spasticity, Ataxia, Hoffmann sign, Tip-toe gait, Impaired vibration sensation in the lower limbs,... OMIM:615625
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Ataxia, Cognitive impairment, Tremor, Babinski sign OMIM:611105
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Cognitive impairment, Anxiety, Rigidity, Chorea, Tremor, Memory impairment,... ORPHA:401901
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Nephrotic Syndrome, Type 17
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:618176
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Focal Segmental Glomerulosclerosis 10
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... OMIM:256020
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... OMIM:619201
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Spastic paraplegia, Nephrop... OMIM:182690
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements OMIM:611092
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor, Bradyk... OMIM:607688
Intellectual Developmental Disorder, Autosomal Recessive 64
Spasticity, Hypertonia, Impaired social interactions, Slurred speech OMIM:618103
Spinocerebellar Ataxia Type 23
Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Impaired proprio... ORPHA:101108
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Morning myoclonic jerks, Intention tremor, Myoclonus ORPHA:308
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Focal Segmental Glomerulosclerosis 2
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... OMIM:603965
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Focal segmental glomerulosclerosis, Renal cortical hyperechogen... OMIM:619263
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Cognitive impairment, Motor deterioratio... ORPHA:79262
Oculorenocerebellar Syndrome
Spastic diplegia, Glomerular sclerosis, Nephropathy, Choreoathetosis OMIM:257970
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:2589
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Unsteady gait, Chorea, Tremor, Hemiballismus OMIM:616921
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... OMIM:613237
Roussy-Lévy Syndrome
Frequent falls, Impaired pain sensation, Limb ataxia, Somatic sensory dysfunction, Unsteady gait,... ORPHA:3115
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Memory impairment, Rigidity, Spastic gait ORPHA:401849
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Neurodegeneration With Brain Iron Accumulation 8
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Dysmetria OMIM:617917
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Episodic Kinesigenic Dyskinesia 3
Torticollis, Involuntary movements, Choreoathetosis, Dystonia OMIM:620245
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Gait disturbance, Inability to walk, Ankle clonus, Kyphosis, Spastic paraplegia, Upper... OMIM:611225
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Hyperprolinemia Type 1
Proteinuria, Nephropathy, Prolinuria ORPHA:419
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired social interactions, Unsteady gait, EEG abnormality, Impaired ability to form peer relat... OMIM:608636
Galloway-Mowat Syndrome 5
Spasticity, Proteinuria, Epicanthus, Stage 5 chronic kidney disease, Ataxia, Focal segmental glom... OMIM:617731
Spinocerebellar Ataxia Type 37
Gait disturbance, Somatic sensory dysfunction, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... ORPHA:363710
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Dementia, Ataxia ORPHA:2274
Sandhoff Disease, Adult Form
Spasticity, Anxiety, Focal dystonia, Tremor, Gait ataxia, Mental deterioration, Fasciculations, D... ORPHA:309169
Spinocerebellar Ataxia Type 40
Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysmetria, Broad-based gait, Sp... ORPHA:423275
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... OMIM:615573
Spinocerebellar Ataxia 35
Torticollis, Difficulty walking, Ataxia, Pseudobulbar paralysis, Loss of ambulation, Impaired pro... OMIM:613908
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:620049
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Unsteady gait, Chorea, Tremor, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Unsteady gait, Ataxia, Intention tremor, Truncal ataxia, Lower limb spas... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Unsteady gait, Hypogonadism, Ankle clonus, Cognitive impairment, Tremor,... OMIM:615768
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Myoclonus, Ataxia OMIM:616187
Urocanase Deficiency
Ataxia, Broad-based gait, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria OMIM:276880
Galloway-Mowat Syndrome 2, X-Linked
Spasticity, Proteinuria, Scoliosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal c... OMIM:301006
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Gait disturbance, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Nonprogressive cerebellar ataxia, Unsteady gait, Clumsiness, Spastic dysarthria, ... ORPHA:314978
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Cognitive impairm... ORPHA:98762
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 chr... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... OMIM:614131
Glomerulopathy With Fibronectin Deposits 2
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... 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
Dystonia 23
Limb dystonia, Torticollis, Gait disturbance, Axial dystonia, Writer's cramp, Head tremor, Myoclonus OMIM:614860
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor, Akinesia OMIM:614203
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Claw hand deformity, Proteinuria, Distal sensory impairment, Stage 5 chronic kidney disease, Step... OMIM:614455
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Impaired distal vibration sensation, Cogwheel rigidity, Parkinsonism wit... OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Lower limb spasticity, Parkinsonism with favorable response to dopaminergic medicat... OMIM:260300
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Emotional labil... ORPHA:216873
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria OMIM:607458
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Difficulty walking, Blepharospasm, Generalized dystonia, Tremor, Tors... ORPHA:99657
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Torticollis, Parkinsonism, Unsteady gait, Postural tremor... ORPHA:210571
Spinocerebellar Ataxia 12
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Anxiety, Dementia, Dysdiadochokinesi... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Truncal ataxia, Ataxia, Dysmetria OMIM:617584
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Spinocerebellar Ataxia 23
Limb ataxia, Impaired vibration sensation in the lower limbs, Tremor, Gait ataxia, Impaired dista... OMIM:610245
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... OMIM:310468
Spinocerebellar Ataxia Type 14
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cognitive impairment, Ri... ORPHA:98763
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Dementia, Ataxia OMIM:208700
Corticobasal Syndrome
Limb myoclonus, Limb dystonia, Parkinsonism, Somatic sensory dysfunction, Oromotor apraxia, Gait ... ORPHA:454887
Huntington Disease-Like 2
Subcortical dementia, Apathy, Anxiety, Dementia, Rigidity, Chorea, Inertia, Bradykinesia, Irritab... OMIM:606438
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Spinocerebellar Ataxia 41
Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Spinocerebellar Ataxia Type 28
Spasticity, Parkinsonism, Limb ataxia, Limb dystonia, Kinetic tremor, Cognitive impairment, Rigid... ORPHA:101109
Dentatorubral-Pallidoluysian Atrophy
Parkinsonism, Ataxia, Dementia, Chorea, Myoclonus, Choreoathetosis, Dystonia OMIM:125370
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Glomerulopathy With Fibronectin Deposits 1
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... OMIM:137950
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu... OMIM:308990
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness OMIM:618221
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Progressive cerebellar ataxia, Difficulty walking, Clumsiness, Progressive gait ataxi... ORPHA:284332
Nephrotic Syndrome, Type 2
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia OMIM:611694
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel... OMIM:616818
Nail-Patella-Like Renal Disease
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2613
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Gait disturbance, Ataxia, Cognitive imp... OMIM:617145
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Dystonia, Difficulty walking, Spastic dysarthria, Impaired proprioception, Impaired ... ORPHA:251282
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
Urocanic Aciduria
Ataxia, Broad-based gait, Gait ataxia, Action tremor, Truncal ataxia ORPHA:210128
Dystonia 11, Myoclonic
Agoraphobia, Torticollis, Anxiety, Writer's cramp, Tremor, Panic attack, Myoclonus OMIM:159900
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis OMIM:613944
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Inability to walk OMIM:606053
Dystonia 24
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia OMIM:615034
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Scoliosis, Gait disturbance, Ataxia, Kyphosis, Tremor ORPHA:101075
Nephrotic Syndrome, Type 14
Proteinuria, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Ataxia, Hyp... OMIM:617575
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Enamel hypoplasia, Nephrotic ... OMIM:618349
Paroxysmal Exertion-Induced Dyskinesia
Paresthesia, Ataxia, Lower limb spasticity, Chorea, Torsion dystonia, Involuntary movements, Chor... ORPHA:98811
Spastic Paraplegia-Nephritis-Deafness Syndrome
Spasticity, Proteinuria, Gait disturbance, Nephropathy, Paraplegia ORPHA:2820
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Emotional lability, Ataxia, Dementia, Abnormality of extrapyramidal motor function, Tremor, Gait ... OMIM:615362
Spinocerebellar Ataxia Type 35
Torticollis, Limb ataxia, Progressive cerebellar ataxia, Difficulty walking, Pseudobulbar paralys... ORPHA:276193
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Rigidity, Chorea, Dysdiadochokinesis, Br... OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Ataxia, Clumsiness, Gait ataxia, Intention tremor, Dysmetria OMIM:608029
Coenzyme Q10 Deficiency, Primary, 6
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... OMIM:614650
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis OMIM:161900
Spinocerebellar Ataxia, X-Linked 1
Unsteady gait, Ataxia, Abnormality of extrapyramidal motor function, Intention tremor, Action tremor OMIM:302500
Polymyoclonus, Infantile
Myoclonus, Irritability, Ataxia OMIM:263550
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Gait disturbance, Retrocollis, Cognitive impairment, Tip-toe gait, Tremo... OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... OMIM:607317
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Nonprogressive cerebellar ataxia, Clonus, Dysdiadochokinesis, Intention tremor, Babinski sign, Dy... OMIM:301310
Lichtenstein-Knorr Syndrome
Limb ataxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Dysmetria OMIM:616291
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Mental deterioration, Myoclonu... OMIM:615924
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Right hemiplegia, Ataxia, Loss of ambulation, Nephrotic syndrome, Hypergonadotropic ... OMIM:607426
Alternating Hemiplegia Of Childhood 2
Ataxia, Hemiplegia, Episodic quadriplegia, Mental deterioration, Tetraplegia, Choreoathetosis, Dy... OMIM:614820
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Anxiety, Dementia, Rigidity, Bradykinesia, Resting tremor, Dystonia OMIM:605909
Nephrotic Syndrome, Type 6
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:614196
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Postural tremo... ORPHA:314632
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Progressive spastic paraplegia, Limb tremor, Spastic gait, Babinski sign, Low... ORPHA:401820
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Spastic tetraplegia, Parkinsonism, Distal sensory impairment, Ataxia, Fa... OMIM:617225
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Scoliosis, Gait disturbance, Ataxia, Kyphosis, Tremor ORPHA:101078
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal tubular atrophy, Chronic kidney disease, Focal segmental glomerulosclerosis, T... OMIM:613092
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Anxiety, Irritability, Chorea, Tremor, Gait ataxia, Mental deterioration, B... OMIM:618093
Nephrotic Syndrome, Type 7
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Thic... OMIM:615008
Nephrotic Syndrome, Type 3
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... OMIM:610725
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerulonephritis, Ataxia, Synophrys, Nephrotic syndrome, Head tremor, Glomerular s... OMIM:619428
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysmetria OMIM:615386
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Anxiety, Hemiplegia, Tremor OMIM:141500
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Paresthesia, Spastic paraplegia, Episodic ataxia, Choreoathetosis, Dysto... ORPHA:53583
Asperger syndrome susceptibility, X-linked 2
Impaired ability to form peer relationships OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Falls, Short stepped shuffling gait, Rigidity, Bradykinesia, Resting tremor, Shuffl... ORPHA:306692
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... OMIM:616892
Brachyolmia Type 1, Toledo Type
Gait disturbance, Irregular vertebral endplates, Short neck, Squared-off platyspondyly, Increased... OMIM:271630
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... OMIM:614377
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Proteinuria, Lipodystrophy, Nephrotic syndr... OMIM:613913
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Spasticity, Distal sensory impairment, Gait disturbance, Postural tremor, Positive Romberg sign, ... OMIM:616668
Scholte Syndrome
Abnormal pyramidal sign, Epicanthus, Micropenis, Upslanted palpebral fissure, Reduced subcutaneou... OMIM:300977
Epilepsy, Progressive Myoclonic, 11
Myoclonus, Intention tremor, Rigidity, Ataxia OMIM:618876
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Cognitive impairment, Loss of... OMIM:615528
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Apathy, Falls, Parkinsonism with favorable response to dopaminergic medication, Anxiety, Rigidity... ORPHA:240085
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Nephrotic syndrome, Focal segmen... OMIM:136680
Epilepsy, Progressive Myoclonic, 12
Ataxia, Difficulty walking, Anxiety, Mental deterioration, Myoclonus, Dysmetria OMIM:619191
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Irritability, Tremor, Myoclonus, Hypertonia, Choreoathetosi... OMIM:261630
Spinocerebellar Ataxia 15
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Gait ataxia, Intention tremor, Fasciculations, Babinski sign, Truncal ataxia, Dysmetria OMIM:613728
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Gait disturbance, Falls, Progressive neurologic deterioration, Action myoclonus, Dem... OMIM:616230
Galloway-Mowat Syndrome 4
Spasticity, Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic s... OMIM:617730
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Hand tremor, Lower limb spasticity ORPHA:401835
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Proteinuria, Glomerulopathy, Unsteady gait, Renal insufficiency, Postural tremor, Nephropathy, Ne... OMIM:254900
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Ataxia, Loss of ambulation, Memory impairment, Tremor, Myoclonus OMIM:614018
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Hand tremor, Difficulty walking, Memory impairment, Tremor, Gait a... ORPHA:98764
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Frequent falls, Nonprogressive cerebellar ataxia, Oculomotor apraxia, Unsteady gait, Clumsiness, ... ORPHA:453521
Basal Ganglia Calcification, Idiopathic, 5
Parkinsonism, Hand tremor, Apathy, Cognitive impairment, Postural tremor, Anxiety, Dementia, Memo... OMIM:615483
Dystonia 12
Emotional lability, Parkinsonism, Torticollis, Unsteady gait, Anxiety, Tremor, Bradykinesia, Dyst... OMIM:128235
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Foca... OMIM:603278
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Difficulty walking, Clumsiness, P... ORPHA:284324
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... ORPHA:420485
Paroxysmal Kinesigenic Dyskinesia
Chorea, Writer's cramp, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Somatic sensory dysfunction, Parkinsonis... ORPHA:240103
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia,... ORPHA:95434
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Impaired vibration sensation in the lower limbs, Tremor, Spastic paraplegia, Spastic gait... OMIM:600363
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Torsion dystonia, Blepharospasm OMIM:224500
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Cogwheel rigidity, Cognitive impairment, Postural tre... OMIM:607346
Brunner Syndrome
Self-injurious behavior, Aggressive behavior, Kinetic tremor, Low frustration tolerance OMIM:300615
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Dystonia 7, Torsion
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... OMIM:602124
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... OMIM:606324
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Gait ataxia, Intention tremor, Impaired vibratory sensation, Sensory ataxia, Lower limb spasticity OMIM:620221
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Inability to walk, Horseshoe kidney, Tremor, Ptosis, Kyphoscoliosis, Choreoathetosis,... OMIM:617664
Huntington Disease-Like 1
Unsteady gait, Anxiety, Dementia, Rigidity, Chorea, Aggressive behavior, Incoordination, Dysmetria OMIM:603218
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait ataxia, Gait imbalance, Truncal ataxia OMIM:604432
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Hypoesthesia, Ataxia, Memory impairment, Chorea, Bradykine... OMIM:618317
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impaired tandem gait, Tremor, Myoclonus, Lower limb spasticity, Dysmetria OMIM:619028
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Loss of ambulation, Scissor gait, Tremor, Bradykinesia, O... ORPHA:521406
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Proteinuria, Podocyte foot process effacement, Nephrotic syndrome OMIM:617006
3-Methylglutaconic Aciduria, Type Iii
Spasticity, Ataxia, Cognitive impairment, Abnormality of extrapyramidal motor function, Chorea, B... OMIM:258501
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... OMIM:164500
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Dementia, Rigi... OMIM:616710
Frasier Syndrome
Proteinuria, Glomerulopathy, Primary amenorrhea, Renal insufficiency, Nephrotic syndrome, Hypergo... ORPHA:347
Spastic Paraplegia 20, Autosomal Recessive
Camptodactyly, Flexion contracture, Impaired vibration sensation at ankles, Difficulty walking, A... OMIM:275900
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Brown-Vialetto-Van Laere Syndrome 2
Scoliosis, Ataxia, Clumsiness, Tongue fasciculations, Kyphoscoliosis, Organic aciduria OMIM:614707
X-Linked Progressive Cerebellar Ataxia
Frequent falls, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Clumsiness, Spastic dy... ORPHA:1175
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Self-mutilation, Inability to walk, Tremor, Waddling gait, Aggressive behavior OMIM:616269
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Cognitive impairment, Impaired... ORPHA:101
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Epicanthus, Lumbar hyperlordosis, Hand tremor, Micropenis, Unsteady gait, Hypogonadism, Thoracolu... ORPHA:3041
Valinemia
Hyperkinetic movements, Valinuria OMIM:277100
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Parkinsonism, Flexion contracture, Scoliosis, Ataxia, Wrist flexion contract... OMIM:300055
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Hand tremor, Upper limb dysmetria, Ankle clonus, Urinary incontinence, Impaired vibrat... OMIM:614409
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis OMIM:161950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal sensory impairment, Ataxia, Steppage gait, Tremor, Gait ataxia, Dysmetria OMIM:618387
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Ataxia, Ankle clonus, Impaired vibration sensation in the lower limbs, Spastic parapleg... OMIM:607565
Gordon Holmes Syndrome
Oligomenorrhea, Primary amenorrhea, Ataxia, Dementia, Chorea, Secondary amenorrhea, Hypogonadotro... OMIM:212840
Galactosemia I
Premature ovarian insufficiency, Galactosuria, Albuminuria, Hypergonadotropic hypogonadism, Amino... OMIM:230400
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Fasciculations OMIM:271200
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... OMIM:618348
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Rigidity, Dysdiadochokinesis ORPHA:228169
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Proteinuria, Nephrotic syndrome, Progressiv... OMIM:608709
Primary Membranoproliferative Glomerulonephritis
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... ORPHA:54370
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Chorea, Resting tremor, Myoclonus, Dystonia ORPHA:324588
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria OMIM:213200
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Inability to walk, Short stepped shuffling gait, Slowed slurred speech, ... ORPHA:391411
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Spasticity, Epicanthus, Kinetic tremor, Abnormal vertebral morphology, Increased vertebral height... OMIM:616817
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Limb tremor, Motor deterioration, Loss of ambulation, Dysdiadochokinesis, Myo... OMIM:256731
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Emotional lability, Parkinsonism, Subcortical dementia, Ataxia, Blepharospasm, Dement... OMIM:606159
Galloway-Mowat Syndrome 6
Proteinuria, Epicanthus, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:618347
Hyperekplexia 4
Camptodactyly, Inguinal hernia, Distal arthrogryposis, Umbilical hernia, Myoclonus, Flexion contr... OMIM:618011
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... OMIM:616730
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Scoliosis, Gait disturbance, Ataxia, Paraparesis, Kyphosis, Tremor ORPHA:99014
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Spinocerebellar Ataxia, Autosomal Recessive 20
Spasticity, Camptodactyly, Epicanthus, Inability to walk, Scoliosis, Ataxia, Oligosacchariduria, ... OMIM:616354
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Weakness due to upper motor neuron dysfunction, Neurogenic bladder, Progressive spastic... ORPHA:466722
Spinocerebellar Ataxia 50
Ataxia, Postural tremor, Apraxia, Memory impairment, Chorea, Head tremor, Myoclonus, Action tremor OMIM:620158
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Gait disturbance, Retrocollis, Cognitive im... OMIM:612067
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Inability to walk, Impaired distal vibration sensation, Tremor, Fasciculations,... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Abnormal pyramidal sign, Distal sensory impairment, Scoliosis, Ataxia, Difficulty walking, Clumsi... OMIM:616688
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 17
Frequent falls, Limb ataxia, Dystonia, Oculomotor apraxia, Ataxia, Unsteady gait, Clumsiness, Gai... OMIM:616127
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Parkinsonism, Gait disturbance, Falls, Impaired tandem gait, Apraxia, Rigidity, Brady... OMIM:300423
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Cognitive impairment, Abnormality of extrapyramidal motor function... ORPHA:98773
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Unsteady gait, Clonus, Titubati... ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 48
Parkinsonism, Ataxia, Broad-based gait, Progressive spastic paraplegia, Urinary incontinence, Uri... ORPHA:306511
Roussy-Levy Hereditary Areflexic Dystasia
Distal sensory impairment, Upper limb postural tremor, Gait ataxia, Action tremor, Kyphoscoliosis OMIM:180800
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Genetic Steroid-Resistant Nephrotic Syndrome
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... ORPHA:656
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... ORPHA:730
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Scoliosis, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation,... OMIM:611555
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hiatus hernia, Focal segmental glome... OMIM:619603
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Impaired vibration sensation at ankles, Unsteady gait, Ataxia, Cognitive... OMIM:616795
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spinocerebellar Ataxia 27B, Late-Onset
Gait ataxia, Postural tremor, Limb ataxia OMIM:620174
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Scoliosis, Short neck, Kyphosis, Spinal rigidity, Hyperlordosis OMIM:300718
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spasticity, Spastic tetraplegia, Inability to walk, Spastic paraplegia, Kyphoscoliosis, Joint con... OMIM:617977
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Upper limb hypertonia, Clonus, Kyphosis, Impaired vibratory sensation, Spastic ... OMIM:614898
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Progressive spastic paraplegia, Knee flexion contracture, Tip-toe gait, Babinski sign, Kyphoscoli... ORPHA:496689
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Ataxia, Abnormality of extrapyramidal motor function, Athetosis, Dystonia OMIM:615159
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Ataxia, Falls, EEG abnormality, Inappropriate laughter, Chorea, Paroxysmal dys... OMIM:619150
Dystonia 31
Parkinsonism, Abnormal posturing, Difficulty walking OMIM:619565
Autosomal Dominant Spastic Paraplegia Type 6
Gait disturbance, Postural tremor, Impaired vibratory sensation, Spastic paraplegia, Babinski sig... ORPHA:100988
Paroxysmal Non-Kinesigenic Dyskinesia
Hyperkinetic movements, Torticollis, Rigidity, Chorea, Involuntary movements, Choreoathetosis, Dy... ORPHA:98810
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Rapid-Onset Dystonia-Parkinsonism
Emotional lability, Limb dystonia, Parkinsonism, Torticollis, Anxiety, Gait ataxia, Bradykinesia,... ORPHA:71517
Spinocerebellar Ataxia 17
Parkinsonism, Limb ataxia, Ataxia, Broad-based gait, Apraxia, Dementia, Frontal lobe dementia, Ri... OMIM:607136
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, S... ORPHA:99750
Huntington Disease-Like 1
Frequent falls, Gait disturbance, Simultanapraxia, Clumsiness, Chorea, Gait ataxia, Bradykinesia,... ORPHA:157941
Nephrotic Syndrome, Type 1
Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Glomerular ... OMIM:256300
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Progressive cerebellar ataxia, Vestibular areflexia, Dysdiadochokinesis, Gait ataxia, Intention t... ORPHA:504476
Parkinson Disease 21
Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:616361
Nemaline Myopathy 7
Frequent falls, Gait disturbance, Lumbar hyperlordosis, Knee flexion contracture, Waddling gait, ... OMIM:610687
Spinocerebellar Ataxia 49
Unsteady gait, Ataxia, Loss of ambulation, Dementia, Abnormality of extrapyramidal motor function... OMIM:619806
Idiopathic Steroid-Resistant Nephrotic Syndrome
Proteinuria, Acute kidney injury, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Fo... ORPHA:567548
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Unsteady gait, Ataxia, Clumsiness, Cognitive impairment, Motor dete... ORPHA:79263
Developmental And Epileptic Encephalopathy 41
Spasticity, Tetraparesis, Inability to walk, Nephrocalcinosis, Babinski sign, Flexion contracture... OMIM:617105
Baker-Gordon Syndrome
Athetoid cerebral palsy, Hyperkinetic movements, Epicanthus, Inability to walk, Scoliosis, Ataxia... OMIM:618218
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Gait disturbance, Tip-toe gait, Kyphosis, Spinal rigidity, Hyperlordosis, Lower limb s... OMIM:617404
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Hype... ORPHA:40
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Ataxia, Rigidity, Bradykinesia, Fasciculations OMIM:183050
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, Hypergonadotropic hypogonadism ORPHA:88637
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Lower limb spasticity, Loss of ambulation, Tremor, Dystonia, Dysmetria OMIM:617916
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Distal sensory impairment, Limb ataxia, Paresthesia, Frequen... OMIM:616719
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Rigidity, Tremor, Gait ataxia, Dysmetria OMIM:618090
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Inability to walk, Lumbar hyperlordosis, Ataxia, Lower limb spasticity, Kyphosis, Wadd... OMIM:616756
Cednik Syndrome
Proteinuria, Hypogonadism, Ataxia, Downslanted palpebral fissures, Nephrotic syndrome ORPHA:66631
Whistling Face Syndrome, Recessive Form
Camptodactyly, Inguinal hernia, Epicanthus, Short neck, Knee flexion contracture, Short palpebral... OMIM:277720
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, Ataxia OMIM:617831
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:617836
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Progressive cerebellar ataxia, Progressive gait ataxia, Dysdiadochokinesis, Intention... ORPHA:352403
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Gly... OMIM:614817
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Mental deterioration, Dementia, Ataxia OMIM:254800
X-Linked Dystonia-Parkinsonism
Frequent falls, Limb dystonia, Hand tremor, Difficulty walking, Blepharospasm, Parkinsonism with ... ORPHA:53351
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal sensory impairment, Limb ataxia, Oculomotor apraxia, Ataxia, Impaired distal vibration sen... OMIM:208920
Charcot-Marie-Tooth Disease Type 1A
Paresthesia, Distal sensory impairment, Gait disturbance, Spontaneous pain sensation, Sensory ata... ORPHA:101081
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Limb ataxia, Scoliosis, Abnormality of extrapyramidal motor function, Kyphosis, Gait ... OMIM:610743
Spinocerebellar Ataxia 29
Limb ataxia, Nonprogressive cerebellar ataxia, Impaired tandem gait, Truncal titubation, Dysdiado... OMIM:117360
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Parkinsonism, Dementia, Rigidity, Tremor OMIM:260540
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... OMIM:613135
Parkinsonism-Dystonia 2, Infantile-Onset
Parkinsonism, Ataxia, Oculogyric crisis, Shuffling gait, Dysdiadochokinesis, Tremor, Incoordinati... OMIM:618049
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Anxiety, Dystonia, Tremor OMIM:619651
Spinocerebellar Ataxia 21
Parkinsonism, Limb ataxia, Progressive cerebellar ataxia, Ataxia, Apathy, Cogwheel rigidity, Cogn... OMIM:607454
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Abnormal pyramidal sign, Emotional lability, Gait disturbance, Ataxia, Cognitive impa... ORPHA:542310
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Truncal ataxia, Broad-based ga... OMIM:610185
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, Short stepped shuffling gait, Spastic dy... ORPHA:240094
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy, Ataxia OMIM:613909
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Spastic tetraplegia, Inability to walk, Congenital contracture, Myoclonus... OMIM:618285
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Distal sensory impairment, Scoliosis, Kyphosis, Difficulty walking OMIM:617087
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Gait disturbance, Nephropathy, Nephrotic syndrome, Tremor, Hypertonia, Hyperlordosis ORPHA:1192
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Gait disturbance, Ataxia, Cognitive impairment, Dementia, Rigidity, ... OMIM:603472
Foxg1 Syndrome
Spasticity, Hyperkinetic movements, Scoliosis, Inability to walk, Difficulty walking, Myoclonus, ... ORPHA:561854
Gerstmann-Straussler Disease
Spasticity, Emotional lability, Parkinsonism, Limb ataxia, Apraxia, Dementia, Rigidity, Memory im... OMIM:137440
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Spasticity, Oculomotor apraxia, Ataxia, Cognitive impairment, Tremor, Gait ataxia, Progressive ps... ORPHA:1170
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Oculomotor apraxia, Unsteady gait, Ataxia, Clumsiness, Postural tremor, Truncal titu... OMIM:609270
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Anxiety, Cognitive impairment, Dy... OMIM:615157
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Spasticity, Proteinuria, Spastic tetraplegia, Scoliosis, Micr... OMIM:619487
Fibronectin Glomerulopathy
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... ORPHA:84090
Atypical Hemolytic Uremic Syndrome
Proteinuria, Acute kidney injury, Hematuria ORPHA:2134
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism, Rigidity, Resting tremor OMIM:614251
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... OMIM:174000
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Epicanthus, Ataxia, Abnormality of the vertebral column, Head titubation, Myoclonus, Am... OMIM:250620
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Autosomal Recessive Spastic Paraplegia Type 23
Horseshoe kidney, Spastic paraplegia, Waddling gait, Spastic gait, Kyphoscoliosis ORPHA:101003
Alport Syndrome
Microscopic hematuria, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Glomer... ORPHA:63
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Myoclonus, Ataxia OMIM:616494
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Kyphosis, Squared-off platyspondyly, Back pain, Intervertebral space narro... OMIM:271530
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Ataxia, Cognitive impairment, Dysdiadochokinesis, Gait ataxia, Intention trem... ORPHA:208513
Spinocerebellar Ataxia 5
Limb ataxia, Ataxia, Ankle clonus, Cognitive impairment, Dysdiadochokinesis, Gait ataxia, Intenti... OMIM:600224
C3 Glomerulopathy
Proteinuria, Acute kidney injury, Lipodystrophy, Stage 5 chronic kidney disease, Chronic kidney d... ORPHA:329918
Masa Syndrome
Kyphosis, Shuffling gait, Spastic paraplegia, Paraplegia, Hyperlordosis, Lower limb spasticity OMIM:303350
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... ORPHA:567546
Dystonia 9
Abnormal pyramidal sign, Paresthesia, Cognitive impairment, Spastic paraplegia, Episodic ataxia, ... OMIM:601042
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... ORPHA:567544
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal sensory impairment, Steppage gait, Tremor, Mental deterioration, Babinski sign... OMIM:609260
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Parkinsonism, Clumsiness, Postural tremor, Rigidity, Bradykinesia, Resting tremor, Freezing of ga... OMIM:619911
Trisomy X
Epicanthus, Renal hypoplasia/aplasia, Upslanted palpebral fissure, Tremor, Secondary amenorrhea, ... ORPHA:3375
Progressive Supranuclear Palsy
Unsteady gait, Falls, Blepharospasm, Cognitive impairment, Dementia, Rigidity, Memory impairment,... ORPHA:683
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Distal sensory impairment, Gait disturbance, Ataxia, Parki... OMIM:606693
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Proteus Syndrome
Downslanted palpebral fissures, Lipoma, Spinal canal stenosis, Limbal dermoid, Multiple lipomas, ... OMIM:176920
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome ORPHA:839
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Abnormality of the vertebral column, Paraparesis, Urinary bladder sphi... ORPHA:53721
Spinocerebellar Ataxia, Autosomal Recessive 30
Unsteady gait, Ataxia, Titubation, Tremor, Dysmetria OMIM:619405
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary epinephrine, Tremor, Glomerular sclerosis, Elevated urinary dopamin... ORPHA:276621
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dementia, Rigidity, Tremor, Bradykinesia, Aggressive behavior, Dystonia, Spastic pa... ORPHA:329284
Seckel Syndrome 8
Ectopic kidney, Kyphoscoliosis OMIM:615807
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Blepharospasm, Cognitive impairment, Dementia, Tremor, Myoclonus OMIM:607876
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Cogwheel rigidity, Ankle clonus, Scissor gait, Bradykinesia, Resting tremor, Babinski... ORPHA:363654
C3 Glomerulopathy 3
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... OMIM:614809
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Inability to walk, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysm... OMIM:614831
Dopa-Responsive Dystonia
Inability to walk, Leg dystonia, Oculogyric crisis, Rigidity, Slurred speech, Dystonia, Emotional... ORPHA:255
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Clonus, Impaired proprioception, Kyphosis, Impaired vibratory sensation ORPHA:319199
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Ataxia, Limb hypertonia, Progressive neurologic deterioration, Rigidity, Irritabili... OMIM:261640
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Spinocerebellar Ataxia Type 17
Spasticity, Abnormal pyramidal sign, Parkinsonism, Torticollis, Gait disturbance, Ataxia, Blephar... ORPHA:98759
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Kyphoscoliosis, Hemolytic-uremic syndrome OMIM:614727
Dent Disease
Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal phosphate was... ORPHA:1652
Spondyloepiphyseal Dysplasia, Stanescu Type
Vertebral wedging, Platyspondyly, Beaking of vertebral bodies, Waddling gait, Kyphoscoliosis OMIM:616583
Saccharopinuria
Distal sensory impairment, Cognitive impairment, Spastic diplegia, Tremor, Gait ataxia, Mental de... ORPHA:3124
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Atlantoaxial abnormality, Downslanted palpebral fissures, Kyphoscoliosis, Shuffling gait ORPHA:3433
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Podocyte foot process e... OMIM:619609
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Anxiety, Dementia, Rigidity, Tremor, Bradykinesia, Mental deterioration, Akinesia, ... OMIM:300894
Charcot-Marie-Tooth Disease Type 4D
Distal sensory impairment, Inability to walk, Unsteady gait, Somatic sensory dysfunction, Postura... ORPHA:99950
Fragile X Tremor/Ataxia Syndrome
Parkinsonism, Premature ovarian insufficiency, Impaired tandem gait, Impaired distal vibration se... OMIM:300623
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Scoliosis, Impaired tandem gait, Impaired distal vibration sensation, Po... OMIM:619574
Dystonia 6, Torsion
Limb dystonia, Torticollis, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Myoclonus... OMIM:602629
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro... OMIM:609813
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Chorea, Resting tremor, Myoclonus, Involuntary movements, Choreoathetosis, Dysto... OMIM:606703
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Gait disturbance, Inability to walk, Tip-toe gait, Opisthotonus, Abno... ORPHA:216866
Congenital Myopathy 13
Scoliosis, Downslanted palpebral fissures, Short palpebral fissure, Flexion contracture, Blepharo... OMIM:255995
Galloway-Mowat Syndrome 3
Spasticity, Proteinuria, Camptodactyly, Epicanthus, Stage 5 chronic kidney disease, Diffuse mesan... OMIM:617729
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Parkinsonism, Gait disturbance, Ataxia, Cognitive impairment, Oculogyric crisis, S... ORPHA:352649
Perry Syndrome
Parkinsonism, Apathy, Dementia, Abnormality of extrapyramidal motor function, Tremor ORPHA:178509
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Sneddon Syndrome
Hemiparesis, Dementia, Memory impairment, Chorea, Tremor, Mental deterioration ORPHA:820
Hsd10 Disease
Gait disturbance, Ataxia, Rigidity, Abnormal urinary acylglycine profile, Tremor, Elevated urinar... ORPHA:391417
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Anxiety, Chorea, Tremor, Action tremor, Hypertonia,... OMIM:619738
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Progressive neurologic deterioration, Rigidity, Irritabi... OMIM:233910
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Torticollis, Limb ataxia, Somatic sensory dysfunction, Postural tremor, Gait atax... OMIM:619862
Ichthyosis--Cheek--Eyebrow Syndrome
Sparse lateral eyebrow, Kyphoscoliosis OMIM:146720
Developmental And Epileptic Encephalopathy 37
Spasticity, Hyperkinetic movements, Gait disturbance, Cogwheel rigidity, Rigidity, Chorea, Myoclo... OMIM:616981
Congenital Muscular Dystrophy Without Intellectual Disability
Frequent falls, Difficulty walking, Tip-toe gait, Achilles tendon contracture, Kyphoscoliosis ORPHA:370980
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Tr... ORPHA:96
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Difficulty walking, Tremor, Bradykinesia, Dystonia ORPHA:306669
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Autosomal Recessive Spastic Paraplegia Type 9B
Spasticity, Impaired vibration sensation at ankles, Urinary retention, Postural tremor, Tip-toe g... ORPHA:447760
Primary Dystonia, Dyt4 Type
Torticollis, Gait disturbance, Blepharospasm, Upper limb postural tremor, Generalized dystonia, D... ORPHA:98805
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, Limb myoclonus, Eyelid myoclonus, Inability to walk, Difficulty walking, Clumsine... ORPHA:2590
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Myoclonus, Dystonia ORPHA:139485
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Glomerulopathy, Ataxia ORPHA:225
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... OMIM:612736
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Renal cell carcinoma, Elevated urinary epinephrine, Tremor, Glomerular sclerosis, El... ORPHA:29072
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment ORPHA:79234
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Abnormal pyramidal sign, Gait disturbance, Hemiparesis, Somatic sensory dysfunction, ... ORPHA:199354
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Proteinuria, Epicanthus, Long eyelashes, Enlarged kidney, Inability to wal... OMIM:617303
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Scoliosis, Gait disturbance, Ataxia, Clumsiness, Ankle clonus, Urinary incontinence, ... ORPHA:88644
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Progressive neurologic deterioration, Dementia, Rigidity, Tremor, Hypertonia OMIM:176500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Broad-based gait, Steppage gait, Knee flexion contracture, Tip-toe gait, Kyphosis, Ach... OMIM:615290
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormal pyramidal sign, Ataxia, Difficulty walking, Cognitive impairment, Dystonic g... ORPHA:280219
Denys-Drash Syndrome
Proteinuria, Nephroblastoma, Nephropathy, Nephrotic syndrome ORPHA:220
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Lumbar scoliosis, Platyspondyly, Secondary amenorrhea, Kyphoscoliosis OMIM:612847
Nephrotic Syndrome, Type 8
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... OMIM:615244
Congenital Myopathy 23
Flexion contracture, Kyphoscoliosis, Waddling gait, Difficulty walking OMIM:609285
Gm1-Gangliosidosis, Type Iii
Scoliosis, Ataxia, Kyphosis, Platyspondyly, Slurred speech, Anterior beaking of lumbar vertebrae OMIM:230650
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Kyphoscoliosis, Ataxia OMIM:616684
Combined Saposin Deficiency
Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations OMIM:611721
Spinocerebellar Ataxia 44
Spasticity, Frequent falls, Ataxia, Dysdiadochokinesis, Gait ataxia, Dysmetria OMIM:617691
Inherited Creutzfeldt-Jakob Disease
Emotional lability, Abnormal pyramidal sign, Progressive cerebellar ataxia, Apathy, Clumsiness, S... ORPHA:282166
Spinocerebellar Ataxia 2
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... OMIM:183090
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Cognitive impairment, Azoospermia, Male infert... ORPHA:276183
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Spasticity, Camptodactyly, Ataxia, Oligosacchariduria, Apraxia, Short palpebral fissure, Palpebra... ORPHA:397709
Parkinson Disease 14, Autosomal Recessive
Spasticity, Parkinsonism, Eyelid myoclonus, Hemiparesis, Hand tremor, Axial dystonia, Clumsiness,... OMIM:612953
Cln5 Disease
Spasticity, Inability to walk, Unsteady gait, Poor gross motor coordination, Ataxia, Clumsiness, ... ORPHA:228360
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Renal insufficiency, Slurred speech, Myoclonus, Nephritis ORPHA:3327
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Inability to walk, Head titubation, Rigidity, Tremor, Bradykinesia, Gai... OMIM:618877
Spinocerebellar Ataxia Type 36
Limb myoclonus, Limb ataxia, Hand tremor, Ataxia, Difficulty walking, Babinski sign, Head tremor,... ORPHA:276198
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor, Bradyk... OMIM:619279
Schimke Immuno-Osseous Dysplasia
Microscopic hematuria, Proteinuria, Lumbar hyperlordosis, Stage 5 chronic kidney disease, Hemipar... ORPHA:1830
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Progressive cerebellar ataxia, Unsteady gait, Difficulty walking, Clumsin... ORPHA:137898
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Inability to walk, Difficulty walking, Somatic sensory dysfunction, Tremor, Spa... ORPHA:101077
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126