Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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lacZ Expression

Expression data not available

Associated Images

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

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
Abnormal pyramidal sign, Dysmetria, Inability to walk, Ataxia, Gait ataxia, Dysdiadochokinesis, T... OMIM:614831
Spinocerebellar Ataxia 44
Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis 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
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Posterior Column Ataxia
Ataxia, Scoliosis, Impaired proprioception, Impaired vibratory sensation OMIM:176250
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Sensory ataxia, Ataxia OMIM:256860
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Epilepsy, Benign Occipital
EEG abnormality OMIM:132090
Epilepsy, Reading
EEG abnormality OMIM:132300
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism, Ataxia ORPHA:1180
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Glutathionuria
Tremor OMIM:231950
Schizophrenia
EEG abnormality OMIM:181500
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensation, Motor deterior... ORPHA:98765
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Memory impairment, Dementia, Progressive cerebellar ataxia, Postural tre... ORPHA:85292
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
X-Linked Complicated Spastic Paraplegia Type 1
Cognitive impairment, Mental deterioration, Ataxia, Spastic paraplegia, Upper motor neuron dysfun... 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
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Hand tremor, Somatic sensory dysfunction, Steppage gait OMIM:300905
Episodic Ataxia, Type 8
Episodic ataxia, Ataxia, Slurred speech, Intention tremor OMIM:616055
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Nephrotic syndrome, Proteinuria, Intention tremor, Gait ataxia, Glomerulopathy, Ne... OMIM:254900
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Ataxia, Tremor OMIM:615945
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait ORPHA:94122
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Impaired vibratory sensation, Tremor ORPHA:217012
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Mental deterioration, Ataxia, Spasticity, Hemiplegia, Gait dis... OMIM:614561
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:300494
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
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia, Tremor OMIM:617018
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Lack of peer relationships OMIM:300496
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Lack of peer relationships OMIM:300425
Autism
Impaired ability to form peer relationships, EEG abnormality OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, EEG abnormality OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, EEG abnormality OMIM:608636
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign ORPHA:401840
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Difficulty walking, Tremor ORPHA:423296
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Ataxia, Hypertonia ORPHA:2672
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Parkinsonism, Memory impairment, Dystonia, Anxiety, Ataxia, Upper motor neu... ORPHA:401901
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Cognitive impairment, Ataxia, Spasticity, Babinski sign, Tremor OMIM:611105
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Proteinuria, Mesangial hypercellularity, Steroid-resistant neph... OMIM:619201
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Motor stereotypy... ORPHA:98807
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Spastic paraplegia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephrop... OMIM:182690
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Unsteady gait, Tremor OMIM:616127
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Ataxia, Myoclonus, Tremor OMIM:616187
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Inability to walk OMIM:606053
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Kinetic tremor, Tremor OMIM:611808
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Cognitive impairment, Dementia, Motor deterioration, Mental deterioratio... ORPHA:79262
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Oculorenocerebellar Syndrome
Glomerular sclerosis, Choreoathetosis, Nephropathy, Spastic diplegia OMIM:257970
Cerebellar Ataxia, Cayman Type
Gait ataxia, Broad-based gait, Intention tremor OMIM:601238
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus ORPHA:308
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Roussy-Lévy Syndrome
Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation, Impaired pain sensatio... ORPHA:3115
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Dementia, Mental deterioration, Ataxia, Emotional lability, Abnormality of extrapyramidal motor f... OMIM:615362
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... OMIM:616053
Autosomal Spastic Paraplegia Type 72
Spastic gait, Memory impairment, Rigidity, Impaired vibration sensation at ankles, Postural tremor ORPHA:401849
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Ataxia, Spasticity, Epicanthus, Stage 5 ch... OMIM:617731
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Spinocerebellar Ataxia Type 35
Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Torticollis, Limb ataxia... ORPHA:276193
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cogwheel rigidity, Gait disturbance, Dysdiadochokinesis, Limb dysmet... ORPHA:363710
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Ataxia, Gait disturbance ORPHA:2274
Galloway-Mowat Syndrome 2, X-Linked
Dysmetria, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Scoliosis, Spasticity, Stage 5 ... OMIM:301006
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Upper limb spasticity, Lower limb spasticity, Spastic paraplegia, Scoliosis, Gait distu... OMIM:611225
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Gait ataxia, Dysdiadochokinesis,... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Cognitive impairment, Unsteady gait, Spasticity, Limb ataxia, Truncal ataxia, Babin... OMIM:615768
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Ataxia OMIM:617769
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Bradykinesia, Resting tremor, Tremor OMIM:616710
Spinocerebellar Ataxia 35
Incoordination, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski sign, Difficulty walking OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... OMIM:616948
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Cognitive impairment, Action tremor, Parkinsonism, Intention tremor, Dem... ORPHA:98762
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Cognitive impairment, Parkinsonism, Dystonia, Shuffling gait, Bradykines... OMIM:615528
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Memory impairment, Impaired proprioception, Spastic dysarthri... ORPHA:251282
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski si... OMIM:610245
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Cognitive impairment, Violent behavior, Frequent falls, Parkinsonism, Fo... ORPHA:216873
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... ORPHA:314978
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:615573
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:613728
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Steppage gait, Distal sensory impairment, Stage 5 chronic kidney disease, Focal segm... OMIM:614455
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Gait disturbance, Torticollis, Writer's cramp, Myoclonus OMIM:614860
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Torticollis, P... ORPHA:210571
Spinocerebellar Ataxia 12
Parkinsonism, Action tremor, Dysmetria, Axial dystonia, Anxiety, Dementia, Head tremor, Progressi... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Spinocerebellar Ataxia Type 14
Cognitive impairment, Somatic sensory dysfunction, Gait ataxia, Progressive cerebellar ataxia, Ri... ORPHA:98763
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Dementia, Ataxia, Spasticity, Tremor OMIM:615889
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Gait ataxia, Scoliosis, Spasticity, Limb ataxia OMIM:610743
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Distal sensory impairment, Kyphosis, Difficulty walking, Scoliosis OMIM:617087
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Spinocerebellar Ataxia Type 28
Kinetic tremor, Cognitive impairment, Parkinsonism, Memory impairment, Dystonia, Head tremor, Lim... ORPHA:101109
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Corticobasal Syndrome
Somatic sensory dysfunction, Parkinsonism, Memory impairment, Dystonia, Dementia, Involuntary mov... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cognitive impairment, Ataxia, Truncal ataxia OMIM:617584
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Dementia, Ataxia, Myoclonus OMIM:208700
Dystonia With Ringbinden
Dystonia, Chorea, Gait disturbance OMIM:224550
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Broa... OMIM:270500
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:600995
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progressive gait ataxia, ... ORPHA:284332
Nail-Patella-Like Renal Disease
Renal insufficiency, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:2613
Glut1 Deficiency Syndrome 2
Cognitive impairment, Dystonia, Choreoathetosis, Ataxia, Irritability, Tremor OMIM:612126
Spinocerebellar Ataxia 19
Cognitive impairment, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia,... OMIM:607346
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Enamel hypoplasia, Renal tubular atrophy, Focal segme... OMIM:618349
Parastremmatic Dwarfism
Short neck, Kyphosis, Scoliosis OMIM:168400
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness OMIM:618221
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Alternating Hemiplegia Of Childhood 2
Dystonia, Choreoathetosis, Mental deterioration, Ataxia, Episodic quadriplegia, Tetraplegia, Hemi... OMIM:614820
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Cognitive impairment, Dystonia, Mental deterioration, Ataxia,... OMIM:617145
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Dementia, Ataxia, Oligomenorrhea OMIM:212840
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Dentatorubral-Pallidoluysian Atrophy
Abnormal pyramidal sign, Choreoathetosis, Dementia, Ataxia, Chorea, Myoclonus OMIM:125370
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Somatic sensory dysfunction, Impaired proprioception, Fasciculations, Un... ORPHA:95434
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Truncal ataxia, Broad-based gait ORPHA:210128
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Dementia, Bradykinesia, Apathy, Irritability, Rigidity, Chorea OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Impaired pain sensation, Ataxia, Scoliosis, Gait disturbance, Tremor ORPHA:101075
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Mental deterioration, Aggressive behavior, Rigidit... OMIM:612953
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease OMIM:161900
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, Tremor OMIM:210000
Dystonia 11, Myoclonic
Anxiety, Agoraphobia, Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Paraplegia, Spasticity, Nephropathy, Gait disturbance ORPHA:2820
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Spasticity, S... OMIM:617730
Developmental And Epileptic Encephalopathy 38
Dystonia, Ataxia, Hypertonia OMIM:617020
Spinocerebellar Ataxia, Autosomal Recessive 6
Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysdiadochokinesis, Babins... OMIM:301310
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Ataxia, Myoclonus, Hypertonia OMIM:612736
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Ataxia, Ptosis, Stage 5... OMIM:617575
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Lower ... ORPHA:98811
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Mental deterioration, Ataxia, Spasticity, Myoclo... OMIM:615924
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Ataxia, Myoclonus, Tremor OMIM:614018
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Dystonia, Bradykinesia, Postural tremor, Rigidity, Gait disturbance, Babins... ORPHA:314632
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Foc... OMIM:610725
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Anxiety, Dementia, Bradykinesia, Rigidity OMIM:605909
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Dementia, Ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:162350
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Resting tremor, Impaired vibratory sensation, Impaired tac... OMIM:617225
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Impaired pain sensation, Ataxia, Scoliosis, Gait disturbance, Tremor ORPHA:101078
Brachyolmia Type 1, Toledo Type
Short neck, Intervertebral space narrowing, Increased urinary disaccharide excretion, Back pain, ... OMIM:271630
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Memory impairment, Dystonia, Bradykinesia, Ment... OMIM:618317
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Dystonia, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritabili... OMIM:618093
Scholte Syndrome
Upslanted palpebral fissure, Abnormal pyramidal sign, Micropenis, Reduced subcutaneous adipose ti... OMIM:300977
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Limb tremor, Babinski sign, ... ORPHA:401820
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Involuntary movements, Ataxia, Craniofacial dystonia, Spasticity, Chorea, Gait disturba... OMIM:617282
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Intention tremor, Ataxia, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Irritability, Progressive neurologic deterioration, Myoclonus,... OMIM:261630
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Lipodystrophy, Nephrotic syndrome, Loss of facial adipose tissue, Hematuria, Proteinuria, Membran... OMIM:613913
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Steppage gait, Gait ataxia, Distal sensory impairment, Tremor OMIM:618387
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cerebellar ataxia, Progr... ORPHA:284324
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Frasier Syndrome
Primary amenorrhea, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmen... OMIM:136680
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Pa... ORPHA:53583
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Head tremor, Glomerulonephritis, Ataxia, S... OMIM:619428
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia, Clumsiness, Postur... OMIM:609270
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Kyphoscoliosis, Distal sensory impairment, Ankle flexion contracture, Tremor OMIM:616668
Epilepsy, Progressive Myoclonic, 11
Rigidity, Ataxia, Myoclonus, Intention tremor OMIM:618876
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Spinocerebellar Ataxia Type 27
Hand tremor, Memory impairment, Akinesia, Aggressive behavior, Gait ataxia, Limb ataxia, Gait dis... ORPHA:98764
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Memory impairment, Bradykinesia, Athetosis, Ment... OMIM:213600
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Memory impairment, Falls, Bradykinesia, Mental deterioration, Apathy, Rigidity, Parkins... ORPHA:240085
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Short neck, Kyphosis, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:300718
Huntington Disease-Like 1
Incoordination, Dysmetria, Anxiety, Dementia, Aggressive behavior, Unsteady gait, Rigidity, Chorea OMIM:603218
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, Tremor OMIM:616719
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Hand tremor, Lower limb spasticity ORPHA:401835
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Difficulty walking, Myoclonus OMIM:619191
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Frequent falls, Dysmetria, Dystonia, Intention tremor, Unsteady gait, Gait ataxia, Truncal ataxia... ORPHA:453521
Dystonia 12
Parkinsonism, Dystonia, Anxiety, Bradykinesia, Unsteady gait, Emotional lability, Torticollis, Tr... OMIM:128235
Leukodystrophy, Hypomyelinating, 16
Abnormal pyramidal sign, Dysmetria, Dystonia, Intention tremor, Gait ataxia, Broad-based gait, Hy... OMIM:617964
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Memory impairment, Focal dy... ORPHA:240103
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lowe... OMIM:600363
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Nystagmus, Hereditary Vertical
Ataxia, Abnormal vestibulo-ocular reflex OMIM:164150
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Scoliosis, Organic aciduria, Tongue fasciculations, Kyphoscoliosis, Clumsiness OMIM:614707
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Ataxia, Irritability, Rigidity... OMIM:261640
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Dystonia, Ataxia, Tetraplegia, Oculomotor apraxia OMIM:616267
Frasier Syndrome
Nephrotic syndrome, Primary amenorrhea, Proteinuria, Glomerulopathy, Nephroblastoma, Renal insuff... ORPHA:347
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Short neck, Resting tremor, Shuffling gait, Parkinsonism, Apraxia, Choreoathetosis,... OMIM:300055
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Leg dystonia, Bradykinesia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617006
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Loss of truncal subcutaneous adipose tissue, Membrano... OMIM:608709
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Upslanted palpebral fissure, Thoracic kyphosis, Dysmetria, Hand tremor, Micropenis, Spastic parap... ORPHA:3041
Spastic Paraplegia 10, Autosomal Dominant
Parkinsonism, Spastic gait, Spastic paraplegia, Ataxia, Lower limb spasticity, Impaired vibration... OMIM:604187
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Scissor gait, Spasticity, L... ORPHA:521406
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Nephrotic syndrome, Ataxia, Recurrent myoglobinuria, Hypergonadotropic hypo... OMIM:607426
Spinocerebellar Ataxia 7
Dysmetria, Mental deterioration, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign... OMIM:164500
Dentatorubral Pallidoluysian Atrophy
Cognitive impairment, Action tremor, Memory impairment, Dysmetria, Choreoathetosis, Impaired prop... ORPHA:101
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tremor OMIM:619028
X-Linked Progressive Cerebellar Ataxia
Frequent falls, Dysmetria, Intention tremor, Spastic dysarthria, Unsteady gait, Progressive cereb... ORPHA:1175
Valinemia
Hyperkinetic movements, Valinuria OMIM:277100
Spastic Paraplegia 20, Autosomal Recessive
Dysmetria, Spastic gait, Flexion contracture, Upper limb spasticity, Spastic paraparesis, Spastic... OMIM:275900
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:618348
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Progressive spastic paraplegia, Lower limb spasticity, Knee flexion contracture, Tip-toe gait, Ky... ORPHA:496689
Baker-Gordon Syndrome
Dystonia, Choreoathetosis, Involuntary movements, Inability to walk, Ataxia, Scoliosis, Epicanthu... OMIM:618218
Galactosemia I
Hypergonadotropic hypogonadism, Aminoaciduria, Increased level of galactitol in urine, Galactosur... OMIM:230400
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Aggressive behavior, Kinetic tremor OMIM:300615
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Fasciculations OMIM:271200
Spastic Paraplegia 48, Autosomal Recessive
Dysmetria, Spastic gait, Parkinsonism, Mental deterioration, Spastic paraplegia, Ataxia, Lower li... OMIM:613647
Galloway-Mowat Syndrome 6
Epicanthus, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic paraparesis, Aggressive behavior, Rigidit... OMIM:300894
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Increased vertebral height, Renal hypoplasia, Hyperlordosis, Abnormal vertebral m... OMIM:616817
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, Inguinal hernia, Umbilical hernia, Kyphoscoliosis, Ca... OMIM:618011
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cognitive impairment, Dysmetria, Dystonia, Apraxia, Anxiety, Spastic paraparesis,... OMIM:615157
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Dystonia, Resting tremor, Short stepped shuffling gait, Shuffling gait, ... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Cognitive impairment, Intention tremor, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:615386
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Dementia, Subcortical dementia, Bradykine... OMIM:606159
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Inability to walk, Ataxia, Poor eye contact, Gait ataxia, Chorea OMIM:618501
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Impaired pain sensation, Ataxia, Paraparesis, Scoliosis, Gait disturbance, Tremor ORPHA:99014
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Rigidity, Bradykinesia, Dysdiadochokinesis ORPHA:228169
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Flexion contracture, Inability to walk, Spastic paraplegia OMIM:617977
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Abnormal pyramidal sign, Impaired proprioception, Spastic dysarthria, Head tremor, Lower limb spa... ORPHA:352641
Dystonia 16
Abnormal pyramidal sign, Cognitive impairment, Parkinsonism, Involuntary movements, Bradykinesia,... OMIM:612067
Spinocerebellar Ataxia Type 21
Cognitive impairment, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality... ORPHA:98773
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Gait ataxia, Distal sensory impairment, Kyphoscoliosis, Upper limb postural tremor OMIM:180800
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic gait, Dystonia, Spastic paraplegia, Ataxia, Lower limb spasticity, Knee clonus, Impaired ... OMIM:607565
3-Methylglutaconic Aciduria, Type Iii
Cognitive impairment, Ataxia, Spasticity, Chorea, Abnormality of extrapyramidal motor function, B... OMIM:258501
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Tre... OMIM:613135
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Unsteady gait, Tremor OMIM:614947
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of the vertebral column, Dysmetria, Dystonia, Abnormal vertebral morphology, Ataxia, ... OMIM:250620
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Foamy urine, Stage 5 chronic ki... ORPHA:656
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Parkinsonism, Spastic gait, Abnormality of the cervical spine, Lo... ORPHA:306511
You-Hoover-Fong Syndrome
Kyphoscoliosis, Spasticity, Ataxia OMIM:616954
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Intention tremor, Fasciculations, Tip-toe gai... ORPHA:397946
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Parkinsonism, Apraxia, Bradykinesia, Impaired tandem gait, Rigidity, Spasticity, G... OMIM:300423
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Dystonia, Intention tremor, Detrusor sphincter dyssynergia, Urina... ORPHA:466722
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Rigidity, Chorea, Tortic... ORPHA:98810
Galloway-Mowat Syndrome 9
Hiatus hernia, Diffuse mesangial sclerosis, Choreoathetosis, Almond-shaped palpebral fissure, Sta... OMIM:619603
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Cognitive impairment, Spastic gait, Ataxia, Unsteady gait, Impaired vibr... OMIM:616795
Spinocerebellar Ataxia 5
Incoordination, Dysmetria, Cognitive impairment, Impaired vibratory sensation, Intention tremor, ... OMIM:600224
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Spastic gait, Kyphosis, Upper limb spasticity, Head tremor, Upper limb dysmetria, Sp... OMIM:614409
3-Methylglutaconic Aciduria Type 3
Ataxia, Spastic paraparesis, Choreoathetosis, Gait disturbance ORPHA:67047
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Flexion contracture, Reduced subcutaneous adipose tissue, Upper motor neuron dysfunction, Kyphosc... OMIM:612079
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Glomerular sclerosis, Congenital nephrotic syndrome, Proteinuria, Re... OMIM:256300
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Spasticity, Arthrogryposis multiplex congenita OMIM:212540
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Cognitive impairment, Myoclonic spasms, Dystonia, Dementia, Motor deterioration, Ataxi... ORPHA:79263
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor OMIM:278780
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Freezing of gait, Parkinsonism, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
Nemaline Myopathy 7
Frequent falls, Knee flexion contracture, Lumbar hyperlordosis, Gait disturbance, Kyphoscoliosis,... OMIM:610687
Dystonia 31
Parkinsonism, Difficulty walking, Abnormal posturing OMIM:619565
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Spinocerebellar Ataxia 17
Dysmetria, Parkinsonism, Dystonia, Intention tremor, Apraxia, Dementia, Bradykinesia, Ataxia, Agg... OMIM:607136
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Abnormal glomerular visceral epith... ORPHA:567548
Foxg1 Syndrome
Dystonia, Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Scol... ORPHA:561854
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Myoclonus ORPHA:324588
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Abnormal pyramidal sign, Fasciculations, Scoliosis, Distal sensory impairment, Urinary incontinen... OMIM:616688
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Resting tremor, Anxiety, Bradykinesia, Craniofacial dystonia, Limb dystonia, Emotio... ORPHA:71517
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, Ataxia ORPHA:88637
Cednik Syndrome
Nephrotic syndrome, Proteinuria, Ataxia, Downslanted palpebral fissures, Hypogonadism ORPHA:66631
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Gait ataxia, Dy... ORPHA:504476
Encephalopathy, Recurrent, Of Childhood
Incoordination, Choreoathetosis, Intention tremor, Athetosis, Chorea, Truncal ataxia, Babinski sign OMIM:130950
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Short neck, Elbow flexion contracture, Blepharophimosis, Ptosis, Knee fl... OMIM:277720
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Spastic paraplegia, Babinski sign, Gait dist... ORPHA:100988
Parkinson Disease 21
Rigidity, Parkinsonism, Bradykinesia, Tremor OMIM:616361
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Parkinsonism, Dementia, Rigidity, Tremor OMIM:260540
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... ORPHA:40
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... OMIM:614817
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Inability to walk, Impaired distal vibration sensation, Tongue fasciculations, Ga... ORPHA:276435
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Dystonia, Inability to walk, Athetosis, Ataxia, Abnormality of extrapyramidal motor function OMIM:615159
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Abnormal glomerular mesangium morphology, Proteinuria, G... ORPHA:567544
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Inability to walk, Lower limb spasticity, Ataxia, Lumbar hyperlordosis, Scoliosis, Wadd... OMIM:616756
Spinocerebellar Ataxia 27
Memory impairment, Impaired vibratory sensation, Head tremor, Ataxia, Gait ataxia, Truncal ataxia... OMIM:609307
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Sensory ataxia, Paresthesia, Distal sensory impairment, Gait disturba... ORPHA:101081
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Rigidity, Spasticity OMIM:183050
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Ceroid Lipofuscinosis, Neuronal, 5
Dysmetria, Motor deterioration, Ataxia, Dysdiadochokinesis, Clumsiness, Myoclonus OMIM:256731
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Oculogyric crisis, Inability to walk, Scoliosis, Spasticity, Chorea, Hyperkinetic movem... OMIM:614254
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Ataxia, Testicular atrophy OMIM:613909
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Hand tremor, Frequent falls, Resting tremor, Focal dystonia, Shuffling gait, Bl... ORPHA:53351
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progressive gait ataxia, ... ORPHA:352403
Developmental And Epileptic Encephalopathy 69
Dystonia, Spastic tetraplegia, Inability to walk, Arthrogryposis multiplex congenita, Hyperkineti... OMIM:618285
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Dystonia, Choreoathetosis, Dementia, Mental deterioration, Oculomotor aprax... OMIM:208920
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Gait ataxia, Impaired tandem gait, Nonprogressive cerebellar ataxia,... OMIM:117360
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Intention tremor, Fasciculations, Ataxia, Gait ataxia, Spasticity, Dysdi... OMIM:133190
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Flexion contracture, Inability to walk, Spasticity OMIM:617105
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Inability to walk, Ataxia, Gait ataxia, Dysdiadochokinesis, T... OMIM:614831
Myopathy, Spheroid Body
Waddling gait, Broad-based gait, Tremor OMIM:182920
Dystonia 9
Abnormal pyramidal sign, Cognitive impairment, Dystonia, Choreoathetosis, Spastic paraplegia, Par... OMIM:601042
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Intervertebral space narrowing, Back pain, Scoliosis, Squared-off platyspon... OMIM:271530
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Cognitive impairment, Parkinsonism, Dystonia, Shuffling gait, Oculogyric crisis, ... OMIM:618049
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Rigidity, Spasticity, Gait disturbance, Hyperkinetic movements, Myoclonus OMIM:616981
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Ovoid vertebral bodies, Short neck, Nephrotic syndrome, Proteinuria, Platyspon... OMIM:242900
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Clonus, Gait d... OMIM:614898
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Neuronal Intranuclear Inclusion Disease
Cognitive impairment, Somatic sensory dysfunction, Dementia, Ataxia, Rigidity, Gait disturbance, ... OMIM:603472
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Ataxia, Tremor OMIM:617831
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Hypertonia, Glomerular sclerosis, Dystonia, Spastic tetraplegia, Proteinuri... OMIM:619487
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairment, Dysdiadochokines... OMIM:617633
Spinocerebellar Ataxia 21
Cognitive impairment, Parkinsonism, Dystonia, Intention tremor, Mental deterioration, Ataxia, Agg... OMIM:607454
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Cognitive impairment, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Progre... ORPHA:1170
Caribbean Parkinsonism
Action tremor, Parkinsonism, Dystonia, Apraxia, Dementia, Bradykinesia, Weakness due to upper mot... ORPHA:97355
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
C3 Glomerulopathy
Lipodystrophy, Glomerular extracapillary hypercellularity, Nephrotic syndrome, Hematuria, Mesangi... ORPHA:329918
Autosomal Recessive Spastic Paraplegia Type 23
Spastic gait, Horseshoe kidney, Spastic paraplegia, Kyphoscoliosis, Waddling gait ORPHA:101003
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Nephrotic syndrome, Proteinuria, Hyperlordosis, Nephropathy, Gait disturbance, Tremor ORPHA:1192
Gerstmann-Straussler Disease
Parkinsonism, Memory impairment, Apraxia, Dementia, Bradykinesia, Aggressive behavior, Emotional ... OMIM:137440
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Myoclonic Epilepsy Of Unverricht And Lundborg
Dementia, Mental deterioration, Ataxia, Myoclonus OMIM:254800
Trisomy X
Upslanted palpebral fissure, Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia... ORPHA:3375
Seckel Syndrome 8
Kyphoscoliosis, Ectopic kidney OMIM:615807
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Myoclonus, Tremor OMIM:616494
Spinocerebellar Ataxia Type 29
Dysmetria, Cognitive impairment, Intention tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Oculo... ORPHA:208513
Joubert Syndrome 18
Kyphoscoliosis, Camptodactyly, Horseshoe kidney OMIM:614815
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:614251
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Proteus Syndrome
Multiple lipomas, Ptosis, Downslanted palpebral fissures, Lipoma, Limbal dermoid, Spinal canal st... OMIM:176920
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Abnormality of the kidney, Cutaneous angiolipomas, Parapares... ORPHA:53721
Dopa-Responsive Dystonia
Dystonia, Panic attack, Abnormality of extrapyramidal motor function, Tremor, Upper motor neuron ... ORPHA:255
Rahman Syndrome
Kyphoscoliosis, Telecanthus, Camptodactyly, Hypertonia OMIM:617537
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Vocal cord paralysis, El... ORPHA:276621
Masa Syndrome
Kyphosis, Shuffling gait, Lower limb spasticity, Spastic paraplegia, Hyperlordosis, Paraplegia OMIM:303350
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic paraplegia, Ataxia, Aggressiv... OMIM:606693
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Dementia, Bradykinesia, Spastic paraparesis, Aggressive behavior, Rigidit... ORPHA:329284
Progressive Supranuclear Palsy
Cognitive impairment, Dystonia, Memory impairment, Blepharospasm, Dementia, Bradykinesia, Abnorma... ORPHA:683
Spinocerebellar Ataxia Type 2
Kinetic tremor, Parkinsonism, Dystonia, Dementia, Fasciculations, Progressive cerebellar ataxia, ... ORPHA:98756
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Galloway-Mowat Syndrome 3
Hiatus hernia, Diffuse mesangial sclerosis, Glomerular sclerosis, Nephrotic syndrome, Proteinuria... OMIM:617729
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Progressive flexion contractures, Spastic paraparesis, Arthrogryposis mu... OMIM:260600
Epilepsy, Familial Adult Myoclonic, 2
Cognitive impairment, Blepharospasm, Dementia, Ataxia, Myoclonus, Tremor OMIM:607876
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Palpebral edema, Chronic kidney disease, Albuminuria, Microscopic hematuri... ORPHA:567546
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Inability to walk, Unsteady gait, Distal sensory impairment, Kyphosc... ORPHA:99950
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Tremor OMIM:618951
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Dementia, Fasciculations, Tongue fasciculations, Difficulty walking, Myoclonus, T... OMIM:159950
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Dystonia, Resting tremor, Limb hypertonia OMIM:606703
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal pyramidal sign, Cognitive impairment, Infertility, Abnormal sperm morphology, Upper limb... ORPHA:320391
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Mental deterioration, Steppage gait, Distal sensory impairment, Spasticity, Babinski ... OMIM:609260
Fragile X Tremor/Ataxia Syndrome
Action tremor, Dysmetria, Memory impairment, Resting tremor, Parkinsonism, Intention tremor, Anxi... OMIM:300623
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Inability to walk, Mental deterioration, Limb myoclonus, Diffic... ORPHA:2590
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Frequent falls, Intention tremor, Gait ataxia, Poor fine motor coordination, Difficulty walking, ... ORPHA:512260
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Downslanted palpebral fissures, Atlantoaxial abnormality, Kyphoscoliosis, Shuffling gait ORPHA:3433
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Inability to walk, Hyperkinetic movements, Myoclonus OMIM:618497
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... ORPHA:363654
Perry Syndrome
Parkinsonism, Dementia, Apathy, Abnormality of extrapyramidal motor function, Tremor ORPHA:178509
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Spinocerebellar Ataxia Type 17
Abnormal pyramidal sign, Parkinsonism, Dystonia, Blepharospasm, Involuntary movements, Mental det... ORPHA:98759
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Saccharopinuria
Cognitive impairment, Mental deterioration, Tremor, Gait ataxia, Distal sensory impairment, Spast... ORPHA:3124
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor ORPHA:139485
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Polyminimyoclonus, Impaired pain sensation, Fasciculations, Impaired temperat... OMIM:619574
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Cognitive impairment, Hypertonia, Parkinsonism, Shuffling gait, Dystonia, O... ORPHA:352649
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis, Sparse lateral eyebrow OMIM:146720
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Irritability, Rigidity, Progressive neurologic deteri... OMIM:233910
Autosomal Recessive Ataxia, Beauce Type
Dysmetria, Kyphosis, Impaired vibratory sensation, Fasciculations, Lower limb spasticity, Ataxia,... ORPHA:88644
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Frequent falls, Tip-toe gait, Kyphoscoliosis, Difficulty walking ORPHA:370980
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria ORPHA:220
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Hypertonia, Dystonia, Mental deterioration, Ataxia, Gait dist... ORPHA:96
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Short neck, Nephrotic syndrome, Flexion contracture, Long eyelashes, Proteinuria... OMIM:617303
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Kyphosis, Bradykinesia, Tremor, Unsteady gait, Scoliosis, Sp... OMIM:617435
Cln5 Disease
Dysmetria, Anxiety, Inability to walk, Poor gross motor coordination, Mental deterioration, Aggre... ORPHA:228360
Sneddon Syndrome
Memory impairment, Dementia, Mental deterioration, Hemiparesis, Chorea, Tremor ORPHA:820
Autosomal Recessive Spastic Paraplegia Type 9B
Spastic gait, Urinary retention, Tetraplegia, Spasticity, Babinski sign, Tip-toe gait, Kyphoscoli... ORPHA:447760
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Dystonia 6, Torsion
Torsion dystonia, Limb dystonia, Laryngeal dystonia, Torticollis, Lingual dystonia, Writer's cram... OMIM:602629
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Focal segmental glomerulosclerosis, Ptosis OMIM:616239
Chromosome 2P16.1-P15 Deletion Syndrome
Short palpebral fissure, Micropenis, Blepharophimosis, Hydronephrosis, Ptosis, Downslanted palpeb... OMIM:612513
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Generalized dystonia, Blepharospasm, Involuntary movements, Laryngeal dystoni... ORPHA:98805
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Ataxia, Glomerulopathy, Proteinuria ORPHA:225
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Achilles tendon contracture, Fasciculations, Hyperlordosis, Knee flexion contracture, Spasticity,... OMIM:615290
Hsd10 Disease