Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
laminin B1
Synonyms:
Lamb-1,  C81607,  C80098,  D130003D08Rik,  Lamb1-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Lamb1 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 Lamb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lissencephaly 5
Spastic paraplegia, Hypotonia OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
ORPHA:352682

The table below shows human diseases predicted to be associated to Lamb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis, Focal d... ORPHA:329466
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Leukoencephalopathy, Brain Calcifications, And Cysts
Tremor, Dystonia, Gait disturbance, Ataxia, Spasticity OMIM:614561
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, EEG with parietal focal spike wav... ORPHA:163727
Dystonia 25
Lingual dystonia, Laryngeal dystonia, Torticollis, Limb dystonia OMIM:615073
Dystonia 30
Dystonia, Loss of ability to walk, Writer's cramp, Torticollis, Leg dystonia, Arm dystonia, Oroma... OMIM:619291
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, G... ORPHA:98807
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Gait ataxia, Torticollis, Generalized dystonia, Limb dystonia OMIM:128101
Striatonigral Degeneration, Childhood-Onset
Dystonia, Hypertonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait OMIM:617054
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Limb dystoni... OMIM:602629
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia, Torticollis OMIM:611694
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Limb dystonia OMIM:614860
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Generalized hypotonia, Chorea, EEG abnormality, Spasticity OMIM:613970
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Ataxia, Torticollis OMIM:618425
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Generalized hypotonia, Ataxia OMIM:617020
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, EEG abnormality, Spasticity OMIM:617829
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Dystonia, Toe walking, Spastic gait, Unsteady gait ORPHA:320411
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Rigidity OMIM:168100
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Resting tremor, Br... OMIM:128230
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Generalized hypotonia, Hypertonia, Dysmetria, Intention tremor, Broad-base... OMIM:617964
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Hypsarrhythmia, Chorea, Spasticity, Hypotonia OMIM:616139
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Spasticity, Ataxia, Dystonia OMIM:615889
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Gait disturbance, Dystonia, Spastic paraplegia OMIM:108600
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Rigidity OMIM:600116
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Torsion dystonia OMIM:314250
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Generalized hypotonia, Bradykinesia, Ataxia, EEG abnormality, Rigidity OMIM:617836
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Limb dystonia, Rigidity, Spasticity ORPHA:101109
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Bradykinesia, Rigidity, Shuffling gait, Spasticity OMIM:615528
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis OMIM:118800
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Hypotonia, Head tremor, Difficulty walking, Spastic tetraparesis, Abnormality of somato... ORPHA:280219
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
Dystonia 16
Postural tremor, Bradykinesia, Torticollis, Unsteady gait, Limb dystonia ORPHA:210571
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Generalized hypotonia, Abnormal posturing, Hypertonia, Blepharospasm, W... OMIM:128100
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Muscular hypotonia of the trunk, Limb dystonia, Rigidity OMIM:605407
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Mental Retardation, Autosomal Recessive 6
Tremor, Dystonia OMIM:611092
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Rigidity ORPHA:401901
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Toe walking, Spasticity, Craniofacial dystonia, Laryngeal dystonia, T... OMIM:617284
Developmental And Epileptic Encephalopathy 7
Dystonia, Spastic tetraparesis, Generalized hypotonia, Hypotonia OMIM:613720
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Muscular hypotonia of the trunk, Spasticity OMIM:607317
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Spasticity OMIM:617282
Primary Dystonia, Dyt21 Type
Paroxysmal dystonia, Axial dystonia, Dystonia, Blepharospasm, Laryngeal dystonia, Torticollis, Ge... ORPHA:306734
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Muscular hypotonia of the trunk, Oromandibular ... OMIM:617013
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Writer's cramp, Prolonged somatosensory evoked potentials OMIM:608105
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, Muscular hypotonia of the trunk, EEG abnormality OMIM:618760
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Writer's cramp, Torticollis, Hypotonia OMIM:159900
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Choreoathetosis, Hypotonia OMIM:261630
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Neonatal hypotonia, Head titubation, Spasticity OMIM:617560
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Hypsarrhythmia, Muscular hypotonia of the trunk, Spastic tetraplegia... OMIM:618285
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Oculogyric crisis, EEG abnormality, Severe muscular hypotoni... OMIM:614254
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Progressive cerebellar ataxia, Dysmetria, Spastic dysarthr... ORPHA:314603
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Difficulty walking, Chorea, Ataxia OMIM:615673
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Infantile axial hypotonia, Progressive inability to walk, Oromand... ORPHA:521406
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Ataxia, Hyperactivity, Spasticity OMIM:615924
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Ataxia, Spasticity OMIM:618276
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Generalized hypotonia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticol... ORPHA:71517
Primary Dystonia, Dyt6 Type
Dystonia, Blepharospasm, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis... ORPHA:98806
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Dy... OMIM:604326
Neurodegeneration With Brain Iron Accumulation
Chorea, Dystonia, Rigidity, Spasticity ORPHA:385
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait OMIM:260300
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia, Muscular hypotonia of the trunk OMIM:251280
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Generalized hypotonia, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Oculo... OMIM:617384
Spinocerebellar Ataxia Type 11
Difficulty walking, Progressive cerebellar ataxia, Dystonia, Gait imbalance ORPHA:98767
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Generalized hypotonia, Gait disturbance, Ataxia, Rigidity OMIM:618239
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia OMIM:611031
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Ataxia, Lower limb spasticity, Choreoathetosis ORPHA:98811
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, EEG abnormality, Choreoathetosis, Paroxysmal lethargy, Spa... OMIM:606777
Huntington Disease-Like 2
Dystonia, Chorea, Action tremor, Bradykinesia, Rigidity OMIM:606438
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Chorea, Gait disturbance, Focal dystonia, Limb dystonia, Oromandibular dystonia, Rigidity... ORPHA:216873
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Normal interictal EEG, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Rigidity, Chorea, Torticollis, Choreoathetosis ORPHA:98810
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Muscular hypotonia of the trunk, Limb hyper... ORPHA:324588
Alternating Hemiplegia Of Childhood 2
Dystonia, Choreoathetosis, Ataxia OMIM:614820
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Hypsarrhythmia, Spasticity OMIM:618397
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Ataxia, Muscular hypotonia of the trunk, Hyperactivity, Choreoathetosis, Spasti... OMIM:612716
Leukodystrophy, Hypomyelinating, 2
Dystonia, Decreased motor nerve conduction velocity, Rigidity, Spastic paraparesis, Head titubati... OMIM:608804
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Generalized hypotonia, Hypotonia, Ataxia, Spasticity OMIM:614458
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Generalized hypotonia, Hypotonia, Ataxia, Lower limb spasticity, Wad... OMIM:616756
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Dystonia, Generalized hypotonia OMIM:616763
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Bradykinesia, Ataxia, Muscular hypotonia of the trunk, Ch... OMIM:261640
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Unsteady gait, Dysmetria, Intention tremor, Infantile musc... ORPHA:453521
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Ataxia OMIM:619196
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Generalized hypotonia, Ataxia, Bradykinesia, Oculogyric c... ORPHA:101150
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Muscular hypotonia of the trunk, Ataxia, Falls, EEG abnormality OMIM:619150
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Generalized hypotonia, Ataxia, Athetosis, Hypotonia OMIM:615159
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Spasticity OMIM:610246
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Focal dystoni... OMIM:605361
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Generalized hypotonia, Ataxia OMIM:618224
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Spastic tetraplegia, Ataxia, Infantile muscular hypotonia ORPHA:263410
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Muscular hypotonia of the trunk, Choreoathetosis, Spasticity OMIM:612438
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Resting tremor, Bradykinesia OMIM:605909
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Gait disturbance, Bradykinesia, Rigidity ORPHA:314632
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Dysmetria OMIM:617145
Huntington Disease-Like 2
Chorea, Dystonia, Gait disturbance ORPHA:98934
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Choreoathetosis, Hypotonia OMIM:618497
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia OMIM:616113
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia, Dysmetri... OMIM:607136
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibular dystonia OMIM:602124
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity... ORPHA:248111
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Ataxia, Bradykinesia, Laryngeal dystonia, Upper li... ORPHA:101110
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, EEG with generalized epileptiform discharges, Hypotonia, Hypsarr... ORPHA:88616
Baker-Gordon Syndrome
Inability to walk, Dystonia, Neonatal hypotonia, Ataxia, EEG abnormality, Choreoathetosis OMIM:618218
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Chorea, Resting tremor, Muscular hypotonia of the trunk, Limb hypertonia OMIM:606703
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Bradykinesia, Ath... OMIM:213600
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Generalized hypotonia, Chorea, Progressiv... ORPHA:98756
Gabriele-De Vries Syndrome
Tremor, Waddling gait, Dystonia OMIM:617557
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Resting tremor, Bradykinesia, Short stepped s... ORPHA:391411
Partington Syndrome
Lower limb spasticity, EEG abnormality, Focal dystonia, Limb dystonia OMIM:309510
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Limb dystonia ORPHA:306741
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Ataxia, Spastic gait, Lower limb spasticity, Impaired vibration sen... OMIM:607565
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Difficulty walking, Chorea, Blepharospasm, Resting tremor, Bradykinesia, Progre... ORPHA:53351
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Hypsarrhythmia, Chorea, Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Oculo... ORPHA:13
Alternating Hemiplegia Of Childhood 1
Dystonia, Choreoathetosis OMIM:104290
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Dystonia, Generalized hypotonia OMIM:618222
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Generalized hypotonia, Gait disturbance, Hypertonia, Spasti... ORPHA:352649
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Chorea, Hypertonia, Ataxia, EEG abnormality, Choreoathetosis, Spasticity ORPHA:71277
Corticobasal Syndrome
Tremor, Dystonia, Akinesia, Gait disturbance, Bradykinesia, Progressive extrapyramidal muscular r... ORPHA:454887
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Opisthotonus, Generalized d... ORPHA:216866
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Abnormal posturing, Dystonia OMIM:304700
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Ataxia, Bradykinesia, Dysmetria OMIM:618317
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Dysmetria, Spasticity OMIM:611390
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Dystonia, Impaired vibratory sensation, Gait disturbance, Lower limb hyperton... OMIM:614898
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Interictal EEG abnormality, Chorea, Ataxia, Unsteady gait, Dysmetria, EEG with ... ORPHA:79263
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Episodic ataxia, Gait ataxia, Truncal ataxia, Dystonia, Episodic generalized hypotonia, Dysmetria OMIM:601338
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Generalized hypotonia, Chorea, Gait disturbance, A... ORPHA:98755
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Choreoathetosis ORPHA:53583
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Bradykinesia, Falls, Rigidity ORPHA:240085
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Dysmetria OMIM:618093
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal motor nerve conduction velocity, Spastic tetraplegia, Dysmetria, Decreased ner... OMIM:618404
Developmental And Epileptic Encephalopathy 1
Dystonia, Hypsarrhythmia, Hypertonia, Spastic tetraparesis, EEG with burst suppression, Muscular ... OMIM:308350
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Resting tremor, Bradykinesia... ORPHA:225147
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Tremor, Gait ataxia, Hypotonia, Neonatal hypoto... ORPHA:3095
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Rigidity, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Laryngea... OMIM:606159
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Hypertonia, Bradykinesia, Generalized dystonia, Limb dystonia, Rigidity OMIM:618824
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Unsteady gait, Spast... OMIM:617435
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Dystonia, Generalized hypotonia, Spasticity OMIM:617820
Myoclonus-Dystonia Syndrome
Writer's cramp, Dystonia, Torticollis ORPHA:36899
Dystonia 16
Postural tremor, Gait disturbance, Bradykinesia, Laryngeal dystonia, Limb dystonia, Retrocollis OMIM:612067
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Dystonia, Spastic tetraparesis ORPHA:67046
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Hypotonia, Dystonia ORPHA:139485
Partington Syndrome
Lower limb spasticity, Gait disturbance, EEG abnormality, Limb dystonia ORPHA:94083
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Generalized hypotonia, Difficulty walking, Head titubation, Ataxia, Progressive spasticity ORPHA:527497
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Impaired pain sensation, Chorea, Limb hypertonia, EEG a... ORPHA:500180
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia ORPHA:1171
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Limb dystonia, Ha... ORPHA:420485
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Cogwheel rigidity, Rigidity, Gait disturbance, Loss of ability to walk, Hy... ORPHA:225154
Parkinson Disease 14, Autosomal Recessive
Tremor, Dystonia, Bradykinesia, Rigidity, Spasticity OMIM:612953
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Rigidity, Hypotonia, Hypertonia... OMIM:618877
Leukodystrophy, Hypomyelinating, 14
Dystonia, Generalized hypotonia, Spasticity OMIM:617899
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Generalized hypotonia OMIM:618244
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Dystonia, Generalized hypotonia, Hypotonia OMIM:616277
16P11.2P12.2 Microduplication Syndrome
Dystonia, Attention deficit hyperactivity disorder ORPHA:261204
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Spastic tetraparesis, Bradykinesia, Hemidystonia OMIM:619052
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Generalized hypotonia, Ataxia, Dysmetria, Choreoathetosis, Spasticity OMIM:618088
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Neonatal hypotonia, Spasticity, Choreoathetosis, Hypotonia OMIM:616034
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Chorea, Hypertonia, Upper limb s... ORPHA:300605
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Lethargy, Dystonia, Rigidity, Limb hypertonia, Severe muscular hypotonia, Choreoathetosis OMIM:233910
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Dystonia, Muscular hypotonia of the trunk, Oculogyric crisis, Shuffling gait OMIM:618049
Developmental And Epileptic Encephalopathy 17
Chorea, Athetosis, Hypsarrhythmia, Dystonia OMIM:615473
Dystonia 12
Unsteady gait, Dystonia, Bradykinesia, Torticollis OMIM:128235
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Broad-based gait, Interictal epileptiform activity, Attention deficit hyperactivity dis... OMIM:619157
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Generalized hypotonia, Difficulty walking, Bradykinesia ORPHA:306669
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Spastic gait, Lower limb s... OMIM:609195
Spinocerebellar Ataxia Type 17
Dystonia, Chorea, Gait disturbance, Blepharospasm, Ataxia, Writer's cramp, Torticollis, Rigidity,... ORPHA:98759
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity OMIM:300894
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Limb dystonia, Rigidity OMIM:613135
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis ORPHA:330050
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Chorea, Resting tremor, Ataxia, Progressive extrapyramidal muscular... ORPHA:401768
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Generalized hypotonia, Chorea, Ataxia OMIM:617804
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia OMIM:610181
Dystonia 9
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Choreoathetosis OMIM:601042
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Generalized hypotonia, Ataxia, Dysmetria, Spasticity OMIM:617954
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis, Torsion dystonia OMIM:224500
Rare Non-Syndromic Intellectual Disability
Difficulty walking, Dystonia, Generalized hypotonia, Spasticity ORPHA:101685
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia OMIM:618924
Huntington Disease-Like 1
Gait ataxia, Generalized hypotonia, Abnormal posturing, Chorea, Gait disturbance, Bradykinesia, E... ORPHA:157941
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Gait disturbance, Blepharospasm, Laryngeal dystonia, Torticollis, Upper limb ... ORPHA:98805
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Muscular hyp... ORPHA:255
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Decreased motor nerve conduction velocity, Chorea, Limb... ORPHA:95
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Spasticity of pharyngeal muscles, Spastici... OMIM:205100
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Hypsarrhythmia, Muscular hypotonia of the trunk, Spasticity OMIM:617669
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Muscular hypotonia of the trunk, Decreased nerve conduction velocity, Severe muscular h... OMIM:614932
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Generalized hypotonia, Toe walking, Spasticity, Dysmetria, Hypotonia OMIM:251950
Dystonia 24
Head tremor, Torticollis, Blepharospasm, Oromandibular dystonia OMIM:615034
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Akinesia, Gait disturbance, Hypertonia, Ataxia, Bradykinesi... OMIM:606693
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Atax... OMIM:612319
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Spastic paraparesis, Ataxia, Bradykinesia, Dysmetria OMIM:615157
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Torticollis, Limb dystonia, Choreoathetosis, Hypotonia OMIM:619054
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Rigidity OMIM:606324
Caribbean Parkinsonism
Dystonia, Progressive gait ataxia, Action tremor, Bradykinesia, Rigidity ORPHA:97355
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Generalized hypotonia, Chorea, Ataxia, Dysmetria, Inte... ORPHA:251347
Spinocerebellar Ataxia Type 6
Dystonia, Gait ataxia, Blepharospasm, Progressive cerebellar ataxia, Unsteady gait, Intention tremor ORPHA:98758
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Gait disturbance, Hypertonia, Ataxia, Dysmetria ORPHA:96
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Generalized hypotonia, Ataxia, Dysmetria, Hypotonia OMIM:250620
Spastic Paraplegia 47, Autosomal Recessive
Inability to walk, Spastic paraplegia, Dystonia, Neonatal hypotonia, Waddling gait, Spasticity OMIM:614066
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity ORPHA:329284
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Chorea, Ataxia, Muscular hy... OMIM:619317
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, EEG abnormality, Abnormal peripheral action potential amplitude, Dec... ORPHA:457205
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Generalized hypotonia, Progressive spastic quadriplegia, Head titubation, Ataxi... OMIM:312080
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Ataxia, EEG abnormality, Dysmetria, Spastic dy... ORPHA:313772
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Impaired vibratory sensation, Limb dystonia, Impaired proprioception ORPHA:319199
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Generalized hypotonia, Dysmetria, Choreoathetos... OMIM:617988
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Ataxia OMIM:619065
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Gait ataxia, Lethargy, Cogwheel rigidity, Chorea, Hypertonia, Action... OMIM:607483
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Generalized hypotonia, Ataxia, Hypotonia OMIM:246900
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Ataxia OMIM:616684
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Generalized hypotonia, Choreoathetosis, Ataxia OMIM:618416
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Dystonia, Limb ataxia, Ataxia, Distal sensory impairment, Ch... OMIM:208920
Ataxia-Oculomotor Apraxia 4
Dystonia, Ataxia OMIM:616267
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Oculogyric crisis, L... ORPHA:238455
Combined Oxidative Phosphorylation Deficiency 35
Dystonia, EEG abnormality, Generalized hypotonia, Spasticity OMIM:617873
Infantile Convulsions And Choreoathetosis
Dystonia, Chorea, Athetosis, Normal interictal EEG, Choreoathetosis ORPHA:31709
Progressive Myoclonic Epilepsy With Dystonia
Dystonia, Generalized neonatal hypotonia, EEG with irregular generalized spike and wave complexes ORPHA:352596
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic paraplegia, Dystonia, Neonatal hypotonia, Ataxia, Unsteady gait, Spastic tetraplegia OMIM:245349
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Difficulty walking, Lower limb hypertonia, Ataxia, Infantile axial hypotonia, Lower lim... ORPHA:438114
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Dystonia, Generalized hypotonia OMIM:615338
Aicardi-Goutieres Syndrome 3
Dystonia, Generalized hypotonia, Hypotonia, Spasticity OMIM:610329
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Akinesia, Limb ataxia, Ataxia, Progres... OMIM:607454
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Foca... ORPHA:99750
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Absent brainstem a... ORPHA:52368
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hypotonia ORPHA:139406
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Dystonia, Chorea, EEG abnormality, Choreoathetosis, Spasticity OMIM:618451
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Lethargy, Dystonia, Generalized hypotonia, Choreoathetosis, Hypotonia OMIM:312170
Progressive Supranuclear Palsy-Corticobasal Syndrome
Tremor, Bradykinesia, Progressive extrapyramidal muscular rigidity, Somatic sensory dysfunction, ... ORPHA:240103
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive gait ataxia, Spastic gait, Progressive inability to walk, Focal dyst... ORPHA:447757
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Muscular hypotonia of the trunk, Oculogyric crisis, Limb hyperton... ORPHA:70594
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Facial hypotonia, Hypotonia, Difficulty walking, Waddling gait, Progressive spastic par... ORPHA:280763
Continuous Spikes And Waves During Sleep
Dystonia, EEG with generalized polyspikes, EEG with centrotemporal focal spike waves, Interictal ... ORPHA:725
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Difficulty walking, Ataxia, Muscular hypotonia of the trunk, Unsteady gait, Lower limb ... ORPHA:464282
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Ataxia, Dysmetria, Spasticity OMIM:614487
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Gait disturbance, Bradykinesia, Hand tremor, Rigidity, Shuffling g... ORPHA:289560
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Generalized hypotonia, Spastic tetraplegia, Choreoathetosis, Spasticity OMIM:618238
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Choreoathetosis, Limb hypertonia, EEG abnormality OMIM:618247
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Chorea, Ataxia, Rigidity, Spasticity OMIM:617672
Gm2-Gangliosidosis, Ab Variant
Dystonia, Generalized hypotonia, Chorea, Hypertonia, Spastic tetraparesis, Muscular hypotonia of ... OMIM:272750
Autosomal Recessive Spastic Paraplegia Type 26
Impaired vibration sensation at ankles, Gait disturbance, Dystonia, Lower limb spasticity ORPHA:101006
Tremor-Ataxia-Central Hypomyelination Syndrome
Positive Romberg sign, Postural tremor, Dystonia, Ataxia, Impaired vibration sensation in the low... ORPHA:447896
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Ataxia, Bradykinesia, Unsteady ... ORPHA:98760
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Progressive gait ataxia, Ataxia, Dysmetria ORPHA:289494
Familial Paroxysmal Ataxia
Dystonia, Ataxia, Torticollis ORPHA:97
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Hypotonia, Gait disturbance, Ataxia, Choreoathetosis, Spasticity ORPHA:765
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Generalized hypotonia, Dystonia OMIM:617248
Huntington Disease-Like 3
Dystonia, Chorea, Ataxia, Unsteady gait, Spasticity OMIM:604802
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Truncal ataxia, Hypsarrhythmia, Head titubation, Hypotonia ORPHA:88639
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Infantile muscular hypotonia, Hypertonia ORPHA:26792
Neuroferritinopathy
Dystonia, Difficulty walking, Chorea, Blepharospasm, Resting tremor, Bradykinesia, Writer's cramp... ORPHA:157846
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Ataxia, Dysmetria, Spasticity OMIM:607694
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Axial dystonia, Dystonia, Akinesia, Blepharospasm, Bradykinesia, Progressive extrapyramid... ORPHA:240071
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Generalized hypotonia, Hypotonia, Chorea, Muscular hypotonia of the trunk, Opisthotonus... OMIM:612389
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Progressive gait ataxia, Chorea, Broad-based gait, Sp... ORPHA:157946
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Spasticity OMIM:618917
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Dystonia, Ataxia ORPHA:459033
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Ataxia, Intention tremor, Athetosis, Spasticity OMIM:617951
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Ataxia, Dystonia OMIM:612951
Birk-Landau-Perez Syndrome
Dystonia, Difficulty walking, Muscular hypotonia of the trunk, Ataxia, Limb hypertonia, Choreoath... OMIM:617595
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Chorea, Multifocal epileptiform discharges, Opisthotonus, Severe muscular hypotonia OMIM:616672
Pyruvate Dehydrogenase E2 Deficiency
Neonatal hypotonia, Paroxysmal dystonia, Choreoathetosis, Ataxia OMIM:245348
Pontocerebellar Hypoplasia, Type 14
Dystonia, Hypertonia, Spastic tetraplegia, Hypotonia OMIM:619301
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Lower limb spasticity OMIM:604391
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Infantile axial hypotonia, Exaggerated startl... ORPHA:309246
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Titubation, Dysmetria ORPHA:98771
Developmental And Epileptic Encephalopathy 84
Dystonia, Generalized hypotonia, Hypsarrhythmia, Chorea, EEG with burst suppression, Muscular hyp... OMIM:618792
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Chorea, Ataxia, Hyperactivity, Athetosis, Hypotonia ORPHA:382
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia OMIM:619025
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Generalized hypotonia, Impaired vibratory sensation, Titubation, Dysmetria, S... ORPHA:459056
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Resting tremor, Bradykinesia, Progressive cerebella... ORPHA:102
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Dystonia, Generalized hypotonia, Difficulty walking OMIM:611890
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Generalized hypotonia, Hypotonia, Spasticity OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Generalized hypotonia, Ataxia OMIM:618226
Baralle-Macken Syndrome
Inability to walk, Neonatal hypotonia, Dystonia, Spasticity OMIM:619255
Peroxisomal Acyl-Coa Oxidase Deficiency
Neonatal hypotonia, Dystonia, Hypertonia OMIM:264470
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Inability to walk, Dystonia, Ataxia, Muscular hypotonia of the trunk, Dysmetria, Spasticity OMIM:618087
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Steppage gait, Rigidity OMIM:613280
Sulfite Oxidase Deficiency, Isolated
Generalized hypotonia, Hypertonia, Ataxia, Generalized dystonia, Infantile muscular hypotonia, Ch... OMIM:272300
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Ataxia, Bradykinesia, Torticollis, Impaired vibration sensation in ... ORPHA:98808
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Generalized hypotonia, Chorea, Athetosis, Spasticity OMIM:617493
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Head tremor, Ataxia, Somatic sensory dysfunction, Choreoathetosis, Gai... ORPHA:64753
Leigh Syndrome With Leukodystrophy
Dystonia, Spasticity, Progressive cerebellar ataxia, Progressive spastic paraplegia, Hypotonia ORPHA:255241
Manganese Poisoning
Postural tremor, Dystonia, Cogwheel rigidity, Akinesia, Gait disturbance, Hypertonia, Bradykinesia ORPHA:306682
Rasmussen Subacute Encephalitis
Inability to walk, EEG with focal epileptiform discharges, Interictal epileptiform activity, EEG ... ORPHA:1929
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Limb ataxia, Resting tremor, Bradykinesia, Progress... ORPHA:227510
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hypertonia, Spastic tetraplegia, Hypotonia OMIM:619302
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Dystonia, Decreased motor nerve conduction velocity, Head tremor, Chorea, Pr... OMIM:606002
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Progressive Supranuclear Palsy
Tremor, Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Rigidity ORPHA:683
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Torticollis, Unsteady gait, Titubation, Dysmetria, I... ORPHA:397946
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Dystonia, Generalized hypotonia, Choreoathetosis, Spasticity OMIM:617664
Autosomal Dominant Cerebellar Ataxia
Postural tremor, Tremor, Dystonia, Impaired vibratory sensation, Akinesia, Rigidity, Chorea, Gait... ORPHA:99
Leber Optic Atrophy
Postural tremor, Dystonia, Ataxia OMIM:535000
Foxg1 Syndrome
Inability to walk, Dystonia, Hypotonia, Difficulty walking, Choreoathetosis, Spasticity ORPHA:561854
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hypertonia, Generalized hypotonia, Hypotonia OMIM:614654
Parkinson Disease 20, Early-Onset
Tremor, Dystonia, Bradykinesia, Rigidity, Shuffling gait OMIM:615530
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Episodic ataxia, Paresthesia, Dystonia OMIM:108500
Metachromatic Leukodystrophy
Dystonia, Generalized hypotonia, Chorea, Gait disturbance, Ataxia, Spastic tetraplegia, Decreased... OMIM:250100
Developmental And Epileptic Encephalopathy 64
Inability to walk, Dystonia, Generalized hypotonia, Chorea, Limb hypertonia OMIM:618004
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Limb dystonia, Hyperactivity, Spasticity ORPHA:363400
Leber Optic Atrophy And Dystonia
Athetosis, Spasticity, Bradykinesia, Dystonia OMIM:500001
Galactosemia
Postural tremor, Dystonia, Lethargy, Gait disturbance, Ataxia, Action tremor, Gait imbalance ORPHA:352
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Spastic tetraparesis, Ataxia, Muscular hypotonia of the trunk, Unstea... ORPHA:35069
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Dystonia ORPHA:98757
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Dystonia, Rigidity OMIM:600795
Classic Galactosemia
Postural tremor, Dystonia, Lethargy, Gait disturbance, Ataxia, Action tremor, Gait imbalance, Att... ORPHA:79239
Chromosome 18P Deletion Syndrome
Dystonia OMIM:146390
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Generalized hypotonia, Truncal ataxia, Intention tremor, Hypotonia OMIM:614407
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Neonatal hypotonia, Dystonia, Ataxia, Spasticity OMIM:252011
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Axial dystonia, Resting tremor, Bradykinesia, Progressive cerebella... ORPHA:98933
3-Methylglutaconic Aciduria, Type I
Dystonia, Ataxia, Spastic tetraplegia, Athetosis, Spasticity OMIM:250950
Huntington Disease
Inability to walk, Dystonia, Difficulty walking, Chorea, Gait disturbance, Bradykinesia, Rigidity... ORPHA:399
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Progressive gait ataxia, Difficulty walking, Progressive spastic quadriplegia, Progress... ORPHA:513436
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dystonia, Generalized hypotonia OMIM:618230
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Hypertonia, Bradykinesia, Dysmetria, Intention... OMIM:610217
Aceruloplasminemia
Tremor, Gait ataxia, Dystonia, Akinesia, Limb ataxia, Chorea, Blepharospasm, Ataxia, Craniofacial... ORPHA:48818
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Facial hypotonia, Generalized hypotonia, Difficulty walking, Unsteady gait... OMIM:617807
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Chorea, Choreoathetosis, Hypotonia ORPHA:289916
Glutaric Acidemia I
Dystonia, Generalized hypotonia, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Hypot... OMIM:231670
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Generalized hypotonia, Spastic diplegia, Dystonia ORPHA:480907
Mucolipidosis Iv
Dystonia, Generalized hypotonia, Spastic tetraplegia, Hypotonia OMIM:252650
Gaucher Disease Type 2
Dystonia, Spasticity ORPHA:77260
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia OMIM:300857
Siddiqi Syndrome
Limb dystonia OMIM:618635
Perry Syndrome
Tremor, Dystonia, Akinesia, Bradykinesia, Short stepped shuffling gait, Rigidity OMIM:168605
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Muscular hypotonia of the trunk, Limb tremor, Exaggerated startle respon... OMIM:608643
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Resting tremor, Bradykinesia, Rigidity, Shuffling gait OMIM:168601
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Dystonia, Progressive spastic paraplegia, Bradykinesia, Muscular hypotonia o... ORPHA:466722
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Dystonia, Hypsarrhythmia, EEG with burst suppression, Hypotonia ORPHA:439218
Developmental And Epileptic Encephalopathy 29
Dystonia, Generalized hypotonia, Chorea, Blepharospasm, Spasticity, Hypotonia OMIM:616339
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Limb ataxia, Ataxia, Bradykinesia, Progre... OMIM:109150
Oromandibular Dystonia
Blepharospasm, Lingual dystonia, Laryngeal dystonia, Torticollis, Generalized dystonia, Limb dyst... ORPHA:93958
Kaya-Barakat-Masson Syndrome
Generalized hypotonia, Muscular hypotonia of the trunk, Spastic tetraplegia, Limb dystonia, Spast... OMIM:619125
Parkinson Disease, Late-Onset
Tremor, Dystonia, Resting tremor, Bradykinesia, Short stepped shuffling gait, Rigidity OMIM:168600
Lipoyltransferase 1 Deficiency
Dystonia, Spastic tetraparesis, Muscular hypotonia of the trunk OMIM:616299
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Progressive cerebellar ataxia, Dystonia, EEG abnormality OMIM:618868
Leukodystrophy, Hypomyelinating, 21
Athetosis, Ataxia, Dystonia OMIM:619310
Developmental And Epileptic Encephalopathy 86
Dystonia, Generalized hypotonia OMIM:618910
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Inability to walk, Dystonia, Generalized hypotonia, Loss of ability to walk in early childhood, H... OMIM:612073
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Dystonia, Ataxia, Spasticity OMIM:617341
Developmental And Epileptic Encephalopathy 44
Athetosis, Generalized hypotonia, Spasticity, Dystonia OMIM:617132
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Hyperactivity, Athetosis, Hypotonia ORPHA:52503
Leukodystrophy, Hypomyelinating, 20
Dystonia, Hypertonia, Spastic tetraplegia, Torticollis OMIM:619071
Combined Oxidative Phosphorylation Deficiency 12
Neonatal hypotonia, Dystonia, Spastic tetraparesis, Bradykinesia OMIM:614924
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Dystonia, Hypsarrhythmia, Ataxia, EEG with focal sharp waves, EEG with focal s... ORPHA:79243
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Generalized hypotonia, Abnormal posturing, Hypotonia OMIM:614857
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Dystonia, Tremor, Generalized hypotonia, Difficulty walking, Chorea, Ataxia, W... OMIM:615356
Liang-Wang Syndrome
Muscular hypotonia of the trunk, Dystonia, Ataxia OMIM:618729
Leigh Syndrome
Dystonia, Generalized hypotonia, Spasticity, Ataxia, Hypotonia OMIM:256000
Pelizaeus-Merzbacher Disease
Dystonia, Hypotonia, Gait disturbance, Ataxia, Choreoathetosis, Spasticity ORPHA:702
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dystonia, Hypertonia, Ataxia, Muscular hypotonia of the trunk, Limb hypertonia, Spastic tetrapleg... OMIM:617710
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Generalized hypotonia, Pain insensitivity, Ataxia, Painless fractures due to injury, Hy... OMIM:256810
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Gait disturbance, Ataxia, Oromandibular dystonia, Spasticity OMIM:614298
Rett Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Gait apraxia, EEG abnormality, Spasticity OMIM:312750
Combined Oxidative Phosphorylation Defect Type 13
Generalized hypotonia, Lower limb hypertonia, Muscular hypotonia of the trunk, Limb dystonia, Dec... ORPHA:319514
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia ORPHA:85278
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Dystonia, Generalized hypotonia, Spasticity, Hypotonia OMIM:614739
Filippi Syndrome
Dystonia OMIM:272440
Aicardi-Goutieres Syndrome 7
Dystonia, Spastic tetraparesis, Generalized hypotonia, Muscular hypotonia of the trunk OMIM:615846
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Oromandibular dystonia, Spastic paraparesis ORPHA:397725
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Generalized hypotonia, Progressive gait ataxia, Decreased nerve conduction velocity, De... ORPHA:309263
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Generalized hypotonia, Spastic tetraplegia OMIM:618237
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Generalized hypotonia, Progressive gait ataxia, Decreased nerve conduction... ORPHA:309256
Postencephalitic Parkinsonism
Cogwheel rigidity, Paresthesia, Akinesia, Resting tremor, Bradykinesia, Oculogyric crisis, Rigidi... ORPHA:97349
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Rigidity, Gait disturbance, Loss of ability to walk, Toe walking, Craniofacial dystonia... ORPHA:157850
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Limb dystonia, Rigidity, Spasticity OMIM:616840
Metachromatic Leukodystrophy, Adult Form
Dystonia, Generalized hypotonia, Progressive gait ataxia, Chorea, Difficulty walking, Progressive... ORPHA:309271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Facial hypotonia, Ataxia, Exaggerated startle response, Severe muscular hypotonia, Broa... ORPHA:438216
Allan-Herndon-Dudley Syndrome
Dystonia, Neonatal hypotonia, Ataxia, Muscular hypotonia of the trunk, Limb hypertonia, Spastic t... ORPHA:59
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Choreoathetosis, Hypotonia ORPHA:79312
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Hypotonia, Chorea, Oculogyric crisis, Severe muscular hypotonia, Spasticity ORPHA:178469
Rett Syndrome
Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, EEG abnormality,... ORPHA:778
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Dystonia, Spastic tetraparesis, EEG abnormality OMIM:617668
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Difficulty walking, Gait disturbance, Hypertonia, Frog-leg posture, Arm dyst... ORPHA:79244
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Tremor, Chorea, Ataxia, Limb dystonia, Severe muscular hypotonia, Athetosis, Rigidity ORPHA:25
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Neonatal hypotonia, Gait disturbance, Ataxia, Lower limb spasticity... ORPHA:88644
Lesch-Nyhan Syndrome
Dystonia, Generalized hypotonia, Spasticity, Opisthotonus, Choreoathetosis, Hypotonia OMIM:300322
Gm1-Gangliosidosis, Type Iii
Dystonia OMIM:230650
Combined Malonic And Methylmalonic Acidemia
Dystonia, Muscular hypotonia of the trunk ORPHA:289504
Parkinsonian-Pyramidal Syndrome
Dystonia, Bradykinesia, Intention tremor, Rigidity, Shuffling gait, Spasticity ORPHA:171695
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Dystonia OMIM:167320
Metachromatic Leukodystrophy
Tremor, Dystonia, Decreased nerve conduction velocity, Gait disturbance, Toe walking, Ataxia, Dec... ORPHA:512
Hereditary Methemoglobinemia
Hypertonia, Spastic tetraplegia, Limb dystonia, Athetosis, Spasticity ORPHA:621
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive gait ataxia, Progressive spastic quadriplegia, Loss of ability to walk, Progressive i... ORPHA:329308
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Spastic diplegia, Spastic tetraparesis, Choreoathetosis, Hypot... ORPHA:391428
Aicardi-Goutieres Syndrome 4
Dystonia, Spasticity OMIM:610333
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Dystonia, Neonatal hypotonia, Progressive spastic quadriplegia, Choreoathetosis, Nonprogressive c... ORPHA:431361
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Paresthesia, Gait disturbance, Writer's cramp, Progressive inability to walk, Impaired vibration ... ORPHA:324442
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Decreased motor nerve conduction velocity, Axial dystonia, Decreased sensory ... OMIM:619026
Young-Onset Parkinson Disease
Tremor, Dystonia, Bradykinesia, Rigidity, Gait imbalance, Spasticity ORPHA:2828
Bilateral Generalized Polymicrogyria
Dystonia, Muscular hypotonia of the trunk, Oculogyric crisis, Spastic tetraplegia, Spasticity ORPHA:208447
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Generalized hypotonia, Spastic ataxia, Hypotonia OMIM:277410
Triosephosphate Isomerase Deficiency
Tremor, Dystonia, Generalized hypotonia, Hypotonia, Unsteady gait, Spasticity OMIM:615512
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Truncal ataxia, Spastic paraparesis, Difficulty walking, Gait distu... ORPHA:309854
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Lower limb hypertonia, Spasticity, Infantile axial hypotonia, Choreoathetosi... ORPHA:2524
Alzheimer Disease 3
Gait disturbance, Dystonia, Spastic tetraparesis OMIM:607822
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Dystonia, Spasticity OMIM:607236
Supranuclear Palsy, Progressive, 1
Tremor, Axial dystonia, Akinesia, Bradykinesia, Falls, Limb dystonia, Rigidity, Gait imbalance, R... OMIM:601104
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Difficulty walking, Ataxia, Infantile axial hypotonia, Limb hypertonia, Spastic tetrapleg... ORPHA:572798
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Dystonia, Lethargy, Ataxia OMIM:618321
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Dystonia, Rigidity, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hype... OMIM:234200
Tay-Sachs Disease
Inability to walk, Tremor, Dystonia, Generalized hypotonia, Gait disturbance, Laryngeal dystonia,... ORPHA:845
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia OMIM:300475
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Dystonia, Generalized hypotonia, Hypotonia OMIM:614105
Developmental And Epileptic Encephalopathy 51
Inability to walk, Dystonia OMIM:617339
Gm1 Gangliosidosis
Tremor, Dystonia, Generalized hypotonia, Hypotonia, Gait disturbance, Ataxia, Unsteady gait, Gene... ORPHA:354
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Interictal epileptiform activity, EEG with focal spikes, Increased theta fre... ORPHA:98784
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Dystonia, Spastic tetraparesis ORPHA:404451
Combined Oxidative Phosphorylation Defect Type 39
Hypsarrhythmia, Loss of ability to walk, Toe walking, Infantile axial hypotonia, Lower limb spast... ORPHA:565624
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Early Infantile Epileptic Encephalopathy
Tremor, Episodic ataxia, Dystonia, EEG with spike-wave complexes, Uni- and bilateral multifocal e... ORPHA:1934
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Dystonia, Generalized hypotonia, Hypotonia, Difficulty walking, Ataxia, Choreoathetosis, Broad-ba... OMIM:610978
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Dystonia, Hypotonia, Spasticity OMIM:619286
Dilated Cardiomyopathy With Ataxia
Dystonia, Neonatal hypotonia, Ataxia, Action tremor, Lower limb spasticity ORPHA:66634
Hereditary Late-Onset Parkinson Disease
Dystonia, Akinesia, Resting tremor, Bradykinesia, Rigidity, Shuffling gait ORPHA:411602
Beta-Ureidopropionase Deficiency
Neonatal hypotonia, Dystonia, Hypsarrhythmia OMIM:613161
Rett Syndrome, Congenital Variant
Dystonia, Generalized hypotonia, Chorea, Neonatal hypotonia, EEG abnormality, Athetosis, Spasticity OMIM:613454
Supranuclear Palsy, Progressive, 2
Postural tremor, Axial dystonia, Akinesia, Bradykinesia, Falls, Rigidity, Gait imbalance, Retroco... OMIM:609454
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Dystonia, Hypotonia, Ataxia, Athetosis, Spasticity ORPHA:357058
Machado-Joseph Disease Type 1
Progressive gait ataxia, Progressive cerebellar ataxia, Dystonia, Spasticity ORPHA:276238
Machado-Joseph Disease Type 2
Progressive gait ataxia, Progressive cerebellar ataxia, Dystonia, Spasticity ORPHA:276241
Adult-Onset Dystonia-Parkinsonism
Tremor, Dystonia, Bradykinesia, Focal dystonia, Rigidity, Spasticity ORPHA:199351
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Generalized hypotonia, Neonatal hypotonia, Gait disturbance, Attention deficit hyperact... OMIM:300352
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Gait disturbance, Dystonia OMIM:617903
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, EEG with frontal sharp slow waves, Hypsarrhythmia, Neonatal hypotonia, Limb hy... ORPHA:457351
Leukodystrophy, Progressive, Early Childhood-Onset
Dystonia, Spasticity OMIM:617762
Cimdag Syndrome
Dystonia, Chorea, Spasticity, Ataxia, Hypotonia OMIM:619273
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Dystonia, Generalized hypotonia, Neonatal hypotonia, Ataxia OMIM:610505
Niemann-Pick Disease, Type C1
Dystonia, Generalized hypotonia, Spasticity, Ataxia, Hypotonia OMIM:257220
Brain-Lung-Thyroid Syndrome
Dystonia, Chorea, Ataxia, Falls, Infantile muscular hypotonia, Intention tremor, Hyperactivity, C... ORPHA:209905
Japanese Encephalitis
Pill-rolling tremor, Tremor, Dystonia, Cogwheel rigidity, Decreased motor nerve conduction veloci... ORPHA:79139
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Generalized hypotonia, Gait disturbance, Spastic diplegia, Ataxia, Spastic... OMIM:616878
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Hypsarrhythmia, Muscular hypotonia of the trunk, Spasticity ORPHA:500144
Dystonia-Aphonia Syndrome
Gait disturbance, Oromandibular dystonia, Generalized dystonia, Unsteady gait ORPHA:412217
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Hypsarrhythmia, Progressive spastic quadriplegia, Exaggerated startle response, Limb hy... ORPHA:521426
Choreoacanthocytosis
Dystonia, Progressive choreoathetosis OMIM:200150
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Spasticity OMIM:618186
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Spastic ataxia, Spastic diplegia, Infantile axial hypotonia, Tortico... ORPHA:300570
Niemann-Pick Disease, Type C2
Dystonia, Generalized hypotonia, Spasticity, Ataxia, Hypotonia OMIM:607625
Hermansky-Pudlak Syndrome 10
Dystonia, Generalized hypotonia, Muscular hypotonia of the trunk, EEG abnormality OMIM:617050
Machado-Joseph Disease Type 3
Progressive gait ataxia, Progressive cerebellar ataxia, Dystonia, Spasticity ORPHA:276244
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Dystonia, Generalized hypotonia, Limb hypertonia, Muscular hypotonia of the trunk OMIM:616875
Dystonia, Juvenile-Onset
Generalized dystonia OMIM:607371
Wieacker-Wolff Syndrome
Dystonia, Generalized hypotonia, Hypotonia, Spasticity OMIM:314580
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Dystonia, Generalized hypotonia, Ataxia, Choreoathetosis, Hypotonia OMIM:615471
Coach Syndrome 1
Dystonia, Generalized hypotonia, Spasticity, Ataxia, Hypotonia OMIM:216360
Mercury Poisoning
Tremor, Dystonia ORPHA:330021
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, EEG with spike-wave complexes, EEG with series of focal spikes, Chorea, Ataxia, EEG abn... ORPHA:522077
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dystonia, Ataxia, Hypotonia OMIM:619167
Nabais Sa-De Vries Syndrome, Type 2
Chorea, Dystonia, Neonatal hypotonia OMIM:618829
Propionic Acidemia
Dystonia, Lethargy, Limb hypertonia, Muscular hypotonia of the trunk OMIM:606054
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Tremor, Hypertonia, Muscular hypotonia of the trunk ORPHA:1578
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Spastic paraplegia, Difficulty walking, Spastic tetraparesis, Lower limb hype... ORPHA:171629
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Tremor, Dystonia, Generalized hypotonia, Gait disturbance, Spastic diplegia, Ataxia, Gait imbalan... OMIM:300966
Leigh Syndrome With Cardiomyopathy
Dystonia, Chorea, Hypertonia, Ataxia, Infantile muscular hypotonia, Spasticity ORPHA:70474
Developmental And Epileptic Encephalopathy 89
Dystonia, Hypsarrhythmia, Hypertonia, EEG with burst suppression, Muscular hypotonia of the trunk... OMIM:619124
Blepharonasofacial Malformation Syndrome
Torsion dystonia ORPHA:1252
Cerebrotendinous Xanthomatosis
Dystonia, Spastic paraparesis, Gait disturbance, Abnormality of somatosensory evoked potentials, ... ORPHA:909
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia ORPHA:453533
Alternating Hemiplegia Of Childhood
Tremor, Dystonia, Facial hypotonia, Rigidity, Chorea, Ataxia, Choreoathetosis, Hypotonia ORPHA:2131
Ataxia-Telangiectasia
Tremor, Choreoathetosis, Ataxia, Dystonia OMIM:208900
Monosomy 18P
Generalized dystonia, Hypotonia ORPHA:1598
Leigh Syndrome
Dystonia, Hypsarrhythmia, Chorea, Spastic diplegia, Ataxia, Infantile muscular hypotonia, Athetos... ORPHA:506
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Tremor, Spasticity, Ataxia, Dystonia OMIM:612199
Lipoid Proteinosis
Dystonia ORPHA:530
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Generalized hypotonia, Spasticity OMIM:616811
Niemann-Pick Disease Type C
Tremor, Dystonia, Axial dystonia, Progressive gait ataxia, Chorea, Gait disturbance, Ataxia, Lowe... ORPHA:646
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Ataxia, Infantile muscular hypotonia, Progressive spasticity, Spasticity ORPHA:496641
Filippi Syndrome
Hypotonia, Limb dystonia, Spasticity ORPHA:3255
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Generalized hypotonia, Ataxia, Tip-toe gait, Hypotonia ORPHA:3008
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Choreoathetosis, Attention deficit hyperactivity disorder ORPHA:261197
Aicardi-Goutieres Syndrome 1
Dystonia, Muscular hypotonia of the trunk, Spasticity OMIM:225750
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia ORPHA:79107
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Dysdiadochokinesis, Dystonia, Broad-based gait, Attention deficit hyperactivity disorder, Hypotonia OMIM:618891
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Dystonia, Ataxia OMIM:208910
Wilson Disease
Tremor, Dystonia OMIM:277900
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Gait ataxia, Chorea, Hypertonia, Ataxia, Infantile muscular hypotonia, Spasticity ORPHA:255210
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Impaired vibratory sensation, Chorea, Hypertoni... ORPHA:2388
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Facial hypotonia, Chorea, Action tremor, Lingual dystonia, EEG abnor... ORPHA:404454
Kufor-Rakeb Syndrome
Lethargy, Difficulty walking, Gait disturbance, Hypertonia, Blepharospasm, Bradykinesia, Lingual ... ORPHA:306674
Vici Syndrome
Generalized hypotonia, Abnormal posturing, Hypotonia OMIM:242840
Arthrogryposis Multiplex Congenita 5
Dystonia, Generalized hypotonia, Akinesia, Hypertonia, Hand tremor OMIM:618947
Unilateral Polymicrogyria
Abnormal posturing, Muscular hypotonia of the trunk, Giant somatosensory evoked potentials, Spast... ORPHA:268943
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia ORPHA:79233
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Hypertonia, Ataxia ORPHA:480864
Slc39A8-Cdg
Inability to walk, Dystonia, Severe muscular hypotonia, Hypsarrhythmia ORPHA:468699
Galloway-Mowat Syndrome 1
Dystonia, Spasticity, Muscular hypotonia of the trunk, Ataxia, Spastic tetraplegia, Hypotonia OMIM:251300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal hypotonia, Dystonia ORPHA:457193
Aicardi-Goutières Syndrome
Tremor, Dystonia, Extrapyramidal muscular rigidity, Spastic paraparesis, Difficulty walking, Hype... ORPHA:51
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Hypertonia, Unsteady gait, Infantile muscular hypotonia, Choreoathetosis ORPHA:17
Neuroleptic Malignant Syndrome
Oculogyric crisis, Chorea, Tremor, Extrapyramidal muscular rigidity ORPHA:94093
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Muscular hypotonia of the trunk OMIM:618278
Orofaciodigital Syndrome Type 1
Tremor, Ataxia, Dystonia ORPHA:2750
Holoprosencephaly
Chorea, Dystonia, Hypotonia, Spasticity ORPHA:2162
Gabriele-De Vries Syndrome