Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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lacZ Expression

Expression data not available

Associated Images

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

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
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Dysmetria, Frequent falls, Spasticity OMIM:617691
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysdiadochokinesis, Gait ataxia, Limb dysmetria, Dysmetria 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, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Posterior Column Ataxia
Scoliosis, Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Ataxia, Sensory, 1, Autosomal Dominant
Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark OMIM:608984
Epilepsy, Benign Occipital
EEG abnormality OMIM:132090
Epilepsy, Reading
EEG abnormality OMIM:132300
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Glutathionuria
Tremor OMIM:231950
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism, Ataxia ORPHA:1180
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Schizophrenia
EEG abnormality OMIM:181500
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Motor deterio... ORPHA:98765
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar at... ORPHA:85292
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction, Cognitive impairment, Mental deterior... ORPHA:306617
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Focal segmental glomerulosclerosis, Intention tremor, Nephropathy, ... OMIM:254900
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Rigidity, Ataxia, Spasticity ORPHA:2672
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608631
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality, Hyperactivity ORPHA:436151
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Anxiety, Myoclonus, Upper motor neuron dysfunctio... ORPHA:401901
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Spastic paraplegia, IgA deposition in the glomerulus, Nephropathy, Focal segmental glomeruloscler... OMIM:182690
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Unsteady gait OMIM:616127
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Epilepsy, Progressive Myoclonic 7
Tremor, Mental deterioration, Myoclonus, Ataxia OMIM:616187
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Dementia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... ORPHA:79262
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300495
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300425
Autism
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:608636
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Oculorenocerebellar Syndrome
Choreoathetosis, Glomerular sclerosis, Spastic diplegia, Nephropathy OMIM:257970
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Cerebellar Ataxia, Cayman Type
Gait ataxia, Broad-based gait, Intention tremor OMIM:601238
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Roussy-Lévy Syndrome
Scoliosis, Urinary bladder sphincter dysfunction, Postural tremor, Gait ataxia, Clumsiness, Impai... ORPHA:3115
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Abnormality of extrapyramidal motor function, Ataxia, Emotional lability, Myocl... OMIM:615362
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Memory impairment, Rigidity ORPHA:401849
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Spasticity, Epicanthus, Ataxia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:617731
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Developmental And Epileptic Encephalopathy 56
Scoliosis, Poor coordination, Ataxia, Attention deficit hyperactivity disorder, Broad-based gait OMIM:617665
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Galloway-Mowat Syndrome 2, X-Linked
Scoliosis, Glomerular sclerosis, Spasticity, Stage 5 chronic kidney disease, Nephrotic syndrome, ... OMIM:301006
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Spastic Paraplegia 18, Autosomal Recessive
Spastic paraplegia, Scoliosis, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb spas... OMIM:611225
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, G... ORPHA:98807
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Cognitive impair... OMIM:615768
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Poor fine motor coordination, Abnorm... ORPHA:98762
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia, Dementia ORPHA:2274
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Mental deterioration OMIM:618418
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Cognitive impairment, Rigi... OMIM:615528
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder OMIM:618221
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Lower limb spasticity, Spast... ORPHA:101010
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Distal sensory impairment, Stage 5 chronic kidney disease, St... OMIM:614455
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Inertia, Violent behavior, Chorea, Gait disturbance, Abnormal pyramidal sign,... ORPHA:216873
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Myo... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Dysmetria, Spasticity OMIM:610743
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Scoliosis, Kyphosis, Distal sensory impairment OMIM:617087
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Head tremor, Action tremor, Progressive cerebellar ... OMIM:604326
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Autosomal Recessive Spastic Paraplegia Type 76
Scoliosis, Gait ataxia, Limb ataxia, Ataxia, Ankle clonus, Lower limb spasticity, Babinski sign ORPHA:488594
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Dementia, Ataxia, Spasticity OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 25
Cognitive impairment, Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Babinski sign, Lim... ORPHA:101109
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus, Dementia OMIM:208700
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Dementia, Speech apraxia, Akinesia, Gait distur... ORPHA:454887
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Gordon Holmes Syndrome
Infertility, Dementia, Oligomenorrhea, Ataxia, Hypogonadotropic hypogonadism OMIM:212840
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephroti... OMIM:618349
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Mental... OMIM:615924
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, Irritability, Cognitive impairment, Choreoathetosis OMIM:612126
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Impaired pain sensation ORPHA:101075
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Chorea, Bradykinesia, Action tremor, Irritability, Anxiety, Rigidity OMIM:606438
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Aggressive behavior, Rigidity, Dystonia, Frontotemporal dementia, Br... OMIM:612953
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Gait disturbance, Nephropathy, Paraplegia, Spasticity ORPHA:2820
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia OMIM:611031
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:608029
Dentatorubral-Pallidoluysian Atrophy
Dementia, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Choreoathetosis, Episodic quadriplegia, Ataxia, Tetraplegia, Mental deterio... OMIM:614820
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Spasticity, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mes... OMIM:617730
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Ataxia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Ataxia, Ptosis, Stage 5 chronic kidney disease, Nephrotic syn... OMIM:617575
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Dystonia 11, Myoclonic
Tremor, Agoraphobia, Writer's cramp, Torticollis, Myoclonus, Anxiety OMIM:159900
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... ORPHA:401820
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Aggressive behavior, Dementia, Impaired vibratory sensation, Imp... OMIM:617225
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Dementia, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Myoclonus OMIM:162350
Brachyolmia Type 1, Toledo Type
Short neck, Gait disturbance, Back pain, Irregular vertebral endplates, Intervertebral space narr... OMIM:271630
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Anxiety, Mental deterioration, Attention defici... OMIM:619191
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Impaired pain sensation ORPHA:101078
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Scholte Syndrome
Upslanted palpebral fissure, Abnormal pyramidal sign, Epicanthus, Kyphoscoliosis, Reduced subcuta... OMIM:300977
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Ataxia OMIM:615957
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Polymyoclonus, Infantile
Irritability, Myoclonus, Ataxia OMIM:263550
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Hematuria, Lipodystrophy, Membranoprolifera... OMIM:613913
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria, Memory ... OMIM:618317
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Irritability, Anxiety, Parkinsonism, Dysmetria, Ba... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Dystonia, Hypertonia, Irritability, Myoclonus, Chor... OMIM:261630
Spinocerebellar Ataxia 31
Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Frasier Syndrome
Focal segmental glomerulosclerosis, Primary amenorrhea, Stage 5 chronic kidney disease, Nephrotic... OMIM:136680
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Ankle clonus, Bradykinesia, Parkinsonism, Babinski sign, Orom... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Aggressive behavior, Paresthesia, Chorea, Paroxysmal dyskinesia, Atax... ORPHA:98811
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Tremor, Ankle flexion contracture, Distal sensory impairment OMIM:616668
Epilepsy, Progressive Myoclonic, 11
Rigidity, Myoclonus, Ataxia, Intention tremor OMIM:618876
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Difficulty walking, Limb atax... ORPHA:98764
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Rigidity, Chorea, Gait disturbance, Abnorma... OMIM:213600
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Frequent falls, Short neck OMIM:300718
Huntington Disease-Like 1
Incoordination, Aggressive behavior, Dementia, Chorea, Unsteady gait, Anxiety, Dysmetria, Rigidity OMIM:603218
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Apat... ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Rigidity, Parkinsonism with favorable response to dopaminergic med... ORPHA:240103
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Brown-Vialetto-Van Laere Syndrome 2
Scoliosis, Clumsiness, Ataxia, Kyphoscoliosis, Organic aciduria, Tongue fasciculations OMIM:614707
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Dystonia With Ringbinden
Hyperlordosis, Chorea, Dystonia, Gait disturbance OMIM:224550
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Oculomotor apraxia, Unsteady g... ORPHA:453521
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Hematuria, Membranoproliferative glomerulon... OMIM:608709
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Intention tremor, Broad-ba... OMIM:617964
Frasier Syndrome
Focal segmental glomerulosclerosis, Hypergonadotropic hypogonadism, Streak ovary, Primary amenorr... ORPHA:347
Dystonia 24
Head tremor, Torticollis, Blepharospasm, Oromandibular dystonia OMIM:615034
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Hand tremor, Thoracic kyphosis, Upslanted palpebral fissure, Lumbar kyphosis... ORPHA:3041
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Urinary bladder sphincter dysfunction, Scoliosis, Knee clonus, Ataxia, Ankle ... OMIM:604187
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Glomerular sclerosis, Ataxia, Nephrotic syndrome, Recurrent myogl... OMIM:607426
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Fo... OMIM:605361
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Difficulty walking, Camptodactyly... OMIM:275900
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... ORPHA:1175
Valinemia
Hyperkinetic movements, Valinuria OMIM:277100
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Involuntary movements, Truncal ataxia, Gait ataxia, Dementia, Dyssynergia, Li... ORPHA:101
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Toe walking, Lower limb spasticity, Babinski sign, Knee flexion contracture, Kyphoscoliosis, Prog... ORPHA:496689
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Baker-Gordon Syndrome
Inability to walk, Scoliosis, Dystonia, Hyperkinetic movements, Epicanthus, Ataxia, Stereotypy, I... OMIM:618218
Hyperphenylalaninemia, Bh4-Deficient, A
Progressive neurologic deterioration, Tremor, Choreoathetosis, Dystonia, Hypertonia, Ataxia, Brad... OMIM:261640
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Dysmetria, Mental ... OMIM:613647
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Kyphoscoliosis OMIM:271200
Galloway-Mowat Syndrome 7
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal tubular atrophy, Stag... OMIM:618348
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Ankle clonus, Bradykinesia, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Galactosemia I
Albuminuria, Hypergonadotropic hypogonadism, Aminoaciduria, Increased level of galactitol in urin... OMIM:230400
Brunner Syndrome
Kinetic tremor, Self-injurious behavior, Aggressive behavior, Low frustration tolerance OMIM:300615
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Dysmetria, Intention tremor, Cognitive impairment, Spasticity OMIM:615386
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Kinetic tremor, Gait ataxia, Truncal ataxia, Increased vertebral height, Abnormal ... OMIM:616817
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Hyperekplexia 4
Camptodactyly, Flexion contracture, Hypertonia, Umbilical hernia, Inguinal hernia, Distal arthrog... OMIM:618011
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Oculomotor apraxia, Ataxia, Cognitive impairment OMIM:616267
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Tremor, Torticollis OMIM:224500
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Aggressive behavior, Dementia, Abnormality of extrapyramid... OMIM:300894
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Nephrotic Syndrome, Type 11
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal tubular atrophy, Stag... OMIM:616730
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Tremor, Paraparesis, Gait disturbance, Kyphosis, Ataxia, Impaired pain sensation ORPHA:99014
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Aggressive behavior, Spastic paraparesis, Dy... OMIM:615157
3-Methylglutaconic Aciduria, Type Iii
Abnormality of extrapyramidal motor function, Chorea, Ataxia, Babinski sign, Cognitive impairment... OMIM:258501
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Action tremor, Upper limb postural tremor, Distal sensory impairment, Kyphoscoliosis OMIM:180800
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Autosomal Recessive Spastic Paraplegia Type 48
Urinary bladder sphincter dysfunction, Ataxia, Urinary incontinence, Lower limb spasticity, Spast... ORPHA:306511
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
You-Hoover-Fong Syndrome
Kyphoscoliosis, Ataxia, Spasticity OMIM:616954
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Dystonia, Impaired vibratory sensation, Gait disturbance, Kyphosis, Lower lim... OMIM:614898
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spastic paraplegia, Kyphoscoliosis, Flexion contracture, Inability to walk OMIM:617977
Mental Retardation, Autosomal Recessive 39
Synophrys, Kyphoscoliosis, Stereotypy, Hyperactivity OMIM:615541
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Abnormality of the vertebral column, Abnormal vertebral morphology, Epicanthus, Aminoac... OMIM:250620
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Dementia, Chorea, Subcortical dementia, Blepharospasm, Ataxia,... OMIM:606159
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... OMIM:256300
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Scoliosis, Gait ataxia, Difficulty walking, Ataxia, Lower limb spasticity, Dy... OMIM:616907
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Scoliosis, Dystonia, Kyphosis, Ataxia, Lumbar hyperlordosis, Lower limb spasti... OMIM:616756
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Flexion contracture, Kyphoscoliosis, Reduced subcutaneous adipose tissue, Hypogonadism, Upper mot... OMIM:612079
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Infertility, Scoliosis, Limb dysmetria, Upper limb spasticity, Head tremor, K... OMIM:614409
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Hematuria, Pyelonephritis, Enlarged kidney, Albuminuria, Recurrent urinar... ORPHA:730
Autosomal Recessive Spastic Paraplegia Type 77
Neurogenic bladder, Dystonia, Paroxysmal dystonia, Progressive spastic paraplegia, Intention trem... ORPHA:466722
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Arthrogryposis multiplex congenita, Spasticity OMIM:212540
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Scoliosis, Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary dif... OMIM:611555
Dystonia 16
Postural tremor, Involuntary movements, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, ... OMIM:612067
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Poor eye contact, Ataxia, Dysmetria OMIM:618501
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Parkinson-Dementia Syndrome
Tremor, Dementia, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Rigidity, Dementia, Speech apraxia, Abnormal pyramidal ... ORPHA:99750
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Lower limb s... ORPHA:100988
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Flexion contracture, Kyphoscoliosis, Spasticity OMIM:617105
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibu... OMIM:602124
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Scoliosis, Difficulty walking, Hypertonia, Abnormal pyramidal sign, Urinary incontinence, Distal ... OMIM:616688
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Dementia, Chorea, Poor fine motor coordination, Ataxia, Motor deter... ORPHA:79263
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Dysmetria, ... ORPHA:504476
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Trisomy X
Tremor, Upslanted palpebral fissure, Epicanthus, Multicystic kidney dysplasia, Secondary amenorrh... ORPHA:3375
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Abnormal posturing, Chorea, Gait disturbance, Poor fine ... ORPHA:157941
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
Whistling Face Syndrome, Recessive Form
Short neck, Blepharophimosis, Camptodactyly, Epicanthus, Inguinal hernia, Short palpebral fissure... OMIM:277720
Cednik Syndrome
Ataxia, Nephrotic syndrome, Downslanted palpebral fissures, Hypogonadism, Proteinuria ORPHA:66631
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Aggressive behavior, Dementia, Rigidity, C... OMIM:607136
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Cognitive impairment OMIM:614947
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, Ataxia ORPHA:88637
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Foxg1 Syndrome
Inability to walk, Scoliosis, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, St... ORPHA:561854
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Charcot-Marie-Tooth Disease Type 1A
Sensory ataxia, Paresthesia, Gait disturbance, Distal sensory impairment, Spontaneous pain sensat... ORPHA:101081
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Motor deterioration, Myoclonus, Dysmetria OMIM:256731
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Weight loss, Opisthotonus, ... ORPHA:216866
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Glomerulonephritis, Microscopic he... ORPHA:567544
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Ataxia OMIM:613909
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Emotional lability, Craniofacial dystonia, Torticollis... ORPHA:71517
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Intervertebral space narrowing, Squared-off platyspondyly, Short ... OMIM:271530
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Intention tremor, ... OMIM:133190
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Aggressive behavior, Dementia, Gait ataxia, Limb ataxia, Bradyki... OMIM:137440
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor OMIM:271150
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Myoclonus, Choreoathetosis, Spasticity OMIM:616981
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Autosomal Recessive Spastic Paraplegia Type 23
Spastic paraplegia, Horseshoe kidney, Spastic gait, Waddling gait, Kyphoscoliosis ORPHA:101003
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Progressive psychomotor... ORPHA:1170
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Decrease... OMIM:174000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dementia, Dystonia, Limb ataxia, Oculomotor... OMIM:208920
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Scoliosis, Dystonia, Chorea, Hyperkinetic movements, Oculogyric crisis, Myoclo... OMIM:614254
Schimke Immunoosseous Dysplasia
Platyspondyly, Focal segmental glomerulosclerosis, Thoracic kyphosis, Ovoid vertebral bodies, Lum... OMIM:242900
Neuronal Intranuclear Inclusion Disease
Tremor, Dementia, Gait disturbance, Ataxia, Somatic sensory dysfunction, Cognitive impairment, Ri... OMIM:603472
Alport Syndrome
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Tubulointerstitial fibro... ORPHA:63
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
C3 Glomerulopathy
Hematuria, Acute kidney injury, Lipodystrophy, Membranoproliferative glomerulonephritis, Chronic ... ORPHA:329918
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Spinocerebellar Ataxia 21
Postural tremor, Cogwheel rigidity, Gait ataxia, Dystonia, Aggressive behavior, Akinesia, Abnorma... OMIM:607454
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Caribbean Parkinsonism
Dystonia, Apraxia, Rigidity, Dementia, Progressive gait ataxia, Bradykinesia, Weakness due to upp... ORPHA:97355
Seckel Syndrome 8
Ectopic kidney, Kyphoscoliosis OMIM:615807
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Arthrogryposis multiplex congenita, Hyperkinetic movements, Congenit... OMIM:618285
Dystonia 9
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Abnormal pyramidal sign, Cognitive im... OMIM:601042
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Tremor, Hematuria, Elevated urinary norepinephrine, Glomerular scleros... ORPHA:276621
Joubert Syndrome 18
Camptodactyly, Horseshoe kidney, Kyphoscoliosis OMIM:614815
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Dysmetria, Intention tremor, Cogniti... ORPHA:208513
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Choreoathetosis, Dystonia, Lethargy, Hyperkinetic m... OMIM:233910
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Kyphosis, Limb dystonia, Impaired proprioception, Clonus, Upper lim... ORPHA:319199
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irr... ORPHA:248111
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Dementia, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent ... OMIM:159950
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Mental deterioration, Myoclonus, Dementia OMIM:254800
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Dementia, Blepharospasm, Ataxia, Myoclonus, Cognitive impairment OMIM:607876
Masa Syndrome
Spastic paraplegia, Hyperlordosis, Kyphosis, Lower limb spasticity, Paraplegia, Shuffling gait OMIM:303350
Rahman Syndrome
Camptodactyly, Hypertonia, Telecanthus, Kyphoscoliosis OMIM:617537
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Aggressive behavior, Dementia, Parkinsonism with favorable ... OMIM:606693
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Postural tremor, Somatic sensory dysfunction, Unsteady gait, Distal sensory im... ORPHA:99950
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Poor eye contact, Gait disturbance, EEG abnormality, Athetosis OMIM:618141
Galloway-Mowat Syndrome 3
Hiatus hernia, Camptodactyly, Glomerular sclerosis, Spasticity, Epicanthus, Stage 5 chronic kidne... OMIM:617729
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Aggressive behavior, Dementia, Spastic paraparesis, Bradykinesia, Parkinsonism,... ORPHA:329284
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Dementia, Chorea, Progressive cerebellar ... ORPHA:98756
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Dementia, Poor fine motor coordination, Resting... OMIM:300623
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Hand tremor, Limb fasciculations OMIM:253400
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Abnormality of the vertebral column, Paraparesis, Cutaneou... ORPHA:53721
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Distal sensory impairment, Steppage gait, Mental deterioration... OMIM:609260
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Truncal ataxia, Reduced sperm motility, Dementia, Abnormal sperm head morphology, He... ORPHA:320391
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Progressive Supranuclear Palsy
Tremor, Dystonia, Dementia, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Unsteady... ORPHA:683
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity, Spasticity OMIM:300983
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Downslanted palpebral fissures, Atlantoaxial abnormality, Shuffling gait, Kyphoscoliosis ORPHA:3433
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Mental deteriorat... ORPHA:228360
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, EEG abnormality, Stereotypy, Impaired use of nonverb... OMIM:608049
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Lopes-Maciel-Rodan Syndrome
Scoliosis, Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Kyphosis, Ankle clonus, Bradyki... OMIM:617435
Leukodystrophy, Hypomyelinating, 3
Progressive flexion contractures, Arthrogryposis multiplex congenita, Spastic paraparesis, Abnorm... OMIM:260600
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Mental Retardation, Autosomal Recessive 48
Self-mutilation, Inability to walk, Kinetic tremor, Aggressive behavior, Waddling gait OMIM:616269
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Dystonia, Slurred speech, Kyphosis, Anterior beaking of lumbar vertebrae OMIM:230650
Chromosome 2P16.1-P15 Deletion Syndrome
Blepharophimosis, Camptodactyly, Epicanthus, Short palpebral fissure, Hydronephrosis, Ptosis, Joi... OMIM:612513
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Intention tremor, Frequent falls, ... ORPHA:512260
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Babinski sign ORPHA:101112
Perry Syndrome
Tremor, Dementia, Abnormality of extrapyramidal motor function, Apathy, Parkinsonism ORPHA:178509
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Dementia, Hypertonia, Rigidity, Spasticity OMIM:176500
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor OMIM:253550
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Cystathioninuria
Tremor, Nephrolithiasis, Cystathioninuria ORPHA:212
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Clumsiness, Impaired vibratory sensation, Gait disturbance, Kyphosis, Ataxia, Ankle cl... ORPHA:88644
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Elevated urina... ORPHA:391417
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Autosomal Recessive Spastic Paraplegia Type 9B
Postural tremor, Pollakisuria, Impaired vibration sensation at ankles, Toe walking, Spastic gait,... ORPHA:447760
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Ck Syndrome
Almond-shaped palpebral fissure, Upslanted palpebral fissure, Epicanthus, Lumbar hyperlordosis, K... ORPHA:251383
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome ORPHA:839
Ichthyosis--Cheek--Eyebrow Syndrome
Sparse lateral eyebrow, Kyphoscoliosis OMIM:146720
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Myoclonus, Choreoathetosis OMIM:618497
Combined Oxidative Phosphorylation Deficiency 24
Ptosis, Spasticity, Focal segmental glomerulosclerosis OMIM:616239
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Dystonia, Oculogyric crisis, Parkinsonism, Cognitive impairm... OMIM:618049
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ankle clonus, Ataxia, Lower limb spast... OMIM:618598
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Kyphoscoliosis, Shuff... ORPHA:3077
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis, Toe walking, Achilles tendon contracture, Waddling gait, Hip contracture, Knee fle... OMIM:615290
Congenital Muscular Dystrophy Without Intellectual Disability
Difficulty walking, Toe walking, Achilles tendon contracture, Kyphoscoliosis, Frequent falls ORPHA:370980
Sneddon Syndrome