Gene Summary

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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Lamb1em1(IMPC)Bay HOM   Early adult 0.00
decreased lean body mass Lamb1em1(IMPC)Bay HET Early adult 6.26×10-05

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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 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
Occipital encephalocele ORPHA:352682

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dystonia 31
Leg dystonia, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal posturing, Arm ... OMIM:619565
Autosomal Dominant Focal Dystonia, Dyt25 Type
Torticollis, Lingual dystonia, Axial dystonia, Laryngeal dystonia, Craniofacial dystonia, Limb dy... ORPHA:329466
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Spastic paraplegia, Dystonia, Difficulty walking, Laryngeal dystonia OMIM:619681
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Hemidystonia, Gait ataxia, Limb dystonia, Torsion dystonia, Generalized dystonia OMIM:128101
Dystonia 30
Torticollis, Leg dystonia, Oromandibular dystonia, Loss of ambulation, Writer's cramp, Dystonia, ... OMIM:619291
Striatonigral Degeneration, Childhood-Onset
Hypertonia, Loss of ambulation, Craniofacial dystonia, Unsteady gait, Dystonia OMIM:617054
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Prolonged somatosensory evoked potentials, EEG with parietal focal spike waves, Writer's cramp, E... ORPHA:163727
Developmental And Epileptic Encephalopathy 38
Hypertonia, Ataxia, Generalized hypotonia, Dystonia OMIM:617020
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Difficulty walking, Rigidity, Dystonia, Sensory ataxia OMIM:619661
Dystonia 25
Torticollis, Lingual dystonia, Laryngeal dystonia, Limb dystonia OMIM:615073
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Gait disturbance, Tremor, Spasticity, Dystonia OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 56
Tip-toe gait, Spastic paraplegia, Unsteady gait, Spastic gait, Dystonia ORPHA:320411
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Spastic paraplegia, Unsteady gait, Dystonia, Tip-toe gait OMIM:615030
Dystonia 33
Axial dystonia, Spasticity, Limb dystonia, Dystonia, Axial hypotonia OMIM:619687
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Writer's cramp, Limb d... OMIM:602629
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Dystonia, Spastic ataxia OMIM:108600
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, EEG abnormality, Difficulty walking, Spasticity, Dystonia OMIM:617829
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Spastic... ORPHA:251282
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Generalized hypotonia, Athetosis, Hypotonia, Dystonia OMIM:615159
Dystonia 23
Torticollis, Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia OMIM:614860
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Primary Dystonia, Dyt13 Type
Torticollis, Action tremor, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Focal dystoni... ORPHA:98807
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Inability to walk, Chorea, Dystonia, Axial hypotonia OMIM:618760
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Spastic gait, Dystonia, Upper limb spasticity OMIM:619966
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Chorea, Craniofacial dystonia, Gait disturbance, Spasticity, Dystonia OMIM:617282
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Craniofacial ... OMIM:617284
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Ataxia, Dystonia, Spasticity OMIM:615889
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Normal interictal EEG, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Dystonia, Inability to walk, Spastic tetraplegia OMIM:618646
Spinocerebellar Ataxia Type 11
Gait imbalance, Difficulty walking, Progressive cerebellar ataxia, Dystonia ORPHA:98767
Developmental And Epileptic Encephalopathy 69
Inability to walk, EEG abnormality, Spastic tetraplegia, Hypsarrhythmia, Dystonia, Axial hypotonia OMIM:618285
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Dystonia, Chorea, Athetosis ORPHA:98809
Dystonia, Dopa-Responsive
Torticollis, Resting tremor, Dysdiadochokinesis, Cogwheel rigidity, Writer's cramp, Gait ataxia, ... OMIM:128230
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Progressive cerebellar ataxia, Spastic ataxia, Dysmetria, Spastic dysarthria, Gait ataxia, Spasti... ORPHA:314603
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Choreoathetosis, Dystonia, Chorea OMIM:125370
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Head tremor, Dystonic gait, Athetosis, EEG with abnormally slow frequencies, Titubation, ... ORPHA:280219
Developmental And Epileptic Encephalopathy 17
Hypsarrhythmia, Dystonia, Chorea, Athetosis OMIM:615473
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Torsion dystonia, Paresthesia, Lower limb spasticity, Dystonia ORPHA:98811
Spinocerebellar Ataxia Type 28
Limb ataxia, Rigidity, Head tremor, Kinetic tremor, Gait ataxia, Spasticity, Limb dystonia, Dystonia ORPHA:101109
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, EEG abnormality, Severe muscular hypotonia, Oculogyric crisis, Chorea, Spastic... OMIM:614254
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Tremor, Rigidity, Dystonia OMIM:168100
Mitochondrial Complex I Deficiency, Nuclear Type 17
Ataxia, Generalized hypotonia, Rigidity, Gait disturbance, Dystonia OMIM:618239
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, EEG abnormality, Falls, Chorea, Dystonia, Axial hypotonia OMIM:619150
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Dystonia 32
Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Hypertonia, Inability to walk, Blepharospasm, Generalized hy... OMIM:128100
Developmental And Epileptic Encephalopathy 7
Spastic tetraparesis, Generalized hypotonia, Dystonia, Hypotonia OMIM:613720
Episodic Kinesigenic Dyskinesia 2
Dystonia, Chorea OMIM:611031
Segawa Syndrome, Autosomal Recessive
Rigidity, Tremor, Gait ataxia, Limb dystonia, Axial hypotonia OMIM:605407
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Chorea, Choreoathetosis, Dystonia ORPHA:98810
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Inability to walk, Hypotonia, Lower limb spasticity, Axial hypotonia, Generalized dystonia OMIM:619389
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Rigidity, Falls, Gait ataxia, Unsteady gait, Hypotonia, Dystonia OMIM:203740
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Generalized hypotonia, Rigidity, Tremor, Dystonia OMIM:617836
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Dystonia OMIM:619196
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Rigidity, Chorea, Tremor, Dystonia ORPHA:401901
Neurodegeneration With Brain Iron Accumulation
Dystonia, Rigidity, Spasticity, Chorea ORPHA:385
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Tremor, Gait ataxia, Spasticity, Dystonia, Axial hypotonia OMIM:607317
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Spastic Paraplegia 80, Autosomal Dominant
Limb ataxia, Spastic paraplegia, Gait disturbance, Upper limb spasticity, Lower limb spasticity, ... OMIM:618418
Primary Dystonia, Dyt21 Type
Torticollis, Axial dystonia, Blepharospasm, Laryngeal dystonia, Limb dystonia, Focal dystonia, Dy... ORPHA:306734
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia OMIM:314250
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Huntington Disease-Like 2
Gait disturbance, Dystonia, Chorea ORPHA:98934
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Dystonia OMIM:616113
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Tremor, Rigidity, Dystonia OMIM:600116
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Alternating Hemiplegia Of Childhood 2
Ataxia, Choreoathetosis, Dystonia OMIM:614820
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Ataxia, Inability to walk, Generalized hypotonia, Waddling gait, Hypotonia, Low... OMIM:616756
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Limb dystonia, Torsion dystonia, Generali... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Appendicular hypotonia, Ataxia, Limb ataxia, Dysmetria, Intention tremor, Trunc... OMIM:616127
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Ataxia, Infantile muscular hypotonia, Spastic tetraplegia ORPHA:263410
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia, Axial hypotonia OMIM:251280
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, EEG abnormality, Spasticity, Hypotonia, Dystonia OMIM:617820
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Spastic te... OMIM:615643
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Ataxia, Intention tremor, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia, Spas... OMIM:614458
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Infantile Convulsions And Choreoathetosis
Chorea, Athetosis, Normal interictal EEG, Choreoathetosis, Dystonia ORPHA:31709
Primary Dystonia, Dyt6 Type
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Craniofacial dystonia, Limb dys... ORPHA:98806
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Choreoathetosis, Spasticity, Axial hypotonia OMIM:614249
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia ORPHA:53583
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Spastic paraplegia, Spastic gait, Lower ... OMIM:607565
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Gait disturbance, Lower limb hypertonia, Dyston... OMIM:614898
Dystonia 16
Torticollis, Postural tremor, Unsteady gait, Limb dystonia ORPHA:210571
Developmental And Epileptic Encephalopathy 27
Chorea, Spasticity, Hypsarrhythmia, Hypotonia, Dystonia, Axial hypotonia OMIM:616139
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, Fo... OMIM:605361
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Limb hypertonia, Generalized hypotonia, Oculogyric crisis, Dystonia... OMIM:617384
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Dysmetria, Gait ataxia, Spasticity, Dystonia OMIM:611390
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Head... OMIM:604326
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Spasticity, Hypsarrhythmia OMIM:618397
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia ORPHA:67046
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Inability to walk, Spasticity, Hypotonia, Dystonia OMIM:618276
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Inability to walk, Dystonia, Hypotonia OMIM:618497
Familial Dyskinesia And Facial Myokymia
Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Dystonia, Axial hypotonia ORPHA:324588
Glut1 Deficiency Syndrome 2
Ataxia, EEG abnormality, Tremor, Choreoathetosis, Dystonia OMIM:612126
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Shuffling gait, Hypotonia, Dystonia, Axial... OMIM:618049
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Choreoathetosis, Hypotonia, Dystonia OMIM:261630
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Generalized hypotonia, Dystonia OMIM:618224
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Limb ataxia, Truncal ataxia, Head titubation, Spasticity, Limb dystonia, Hypotonia OMIM:617560
Glut1 Deficiency Syndrome 1
Ataxia, EEG abnormality, Choreoathetosis, Spasticity, Paroxysmal dystonia OMIM:606777
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Rigidity, Chorea, Gait disturbance, Tremor, Spasticity, Limb dystonia, Fo... ORPHA:216873
Partington Syndrome
Gait disturbance, EEG abnormality, Lower limb spasticity, Limb dystonia ORPHA:94083
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Rigidity, Chorea, Athetosis, Gait disturbance, Tremor, Limb dysmetria, Dystonia OMIM:213600
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Ataxia, Dystonia ORPHA:1171
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Dysmetria, Progressive spasticity, Abnormal motor nerve cond... OMIM:618404
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Prolonged somatosensory evoked potentials, Paroxysmal dystonia OMIM:608105
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Infantile muscular hypotonia, Dysmetria, Intention tremor, Nonprogressive cerebellar ataxia, Trun... ORPHA:453521
Baker-Gordon Syndrome
Neonatal hypotonia, Inability to walk, Ataxia, EEG abnormality, Choreoathetosis, Dystonia OMIM:618218
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Generalized hypotonia, Chorea, EEG with generalized epile... ORPHA:88616
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Infantile axial hypotonia, Tremor, Spasticity, Scisso... ORPHA:521406
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Dysmetria, Generalized hypotonia, Choreoathetosis, Spasticity, Dystonia OMIM:618088
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Pill-rolling tremor, Limb hypertonia, Rigidity, Shuffling gait, Spasticity, D... OMIM:615528
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait disturbance, Tremor, Gait ataxia, Dystonia OMIM:617145
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Ataxia, Dystonia, Spasticity OMIM:615924
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia, Axial hypotonia OMIM:612438
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Resting tremor, Generalized hypotonia, Craniofacial dystonia, Gait ataxia, Limb dyst... ORPHA:71517
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Limb dystonia ORPHA:306741
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Hypertonia, Dysmetria, Intention tremor, Shuffling gait, Choreoathetosis, Gait ... OMIM:617964
Dystonia 12
Torticollis, Tremor, Dystonia, Unsteady gait OMIM:128235
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Dystonia, Dysmetria, Chorea OMIM:618317
Rare Non-Syndromic Intellectual Disability
Dystonia, Difficulty walking, Generalized hypotonia, Spasticity ORPHA:101685
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Dystonia OMIM:611092
Leukoencephalopathy, Cystic, Without Megalencephaly
Dystonia, Ataxia, Spasticity, Athetosis OMIM:612951
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, EEG abnormality, Chorea, Choreoathetosis, Spasticity, Dystonia ORPHA:71277
Partington Syndrome
EEG abnormality, Lower limb spasticity, Limb dystonia, Focal dystonia OMIM:309510
Parkinson Disease 15, Autosomal Recessive Early-Onset
Rigidity, Tremor, Scissor gait, Lower limb spasticity, Dystonia OMIM:260300
Dystonia 9
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Dystonia 11, Myoclonic
Torticollis, Generalized hypotonia, Tremor, Writer's cramp, Hypotonia OMIM:159900
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Rigidity, Chorea, Oral motor hypotonia, ... ORPHA:248111
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Dysmetria, Tip-toe gait, Spastic paraplegia, Difficulty walking, Spastic gait, Lower limb... OMIM:609195
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Dystonia OMIM:617557
Episodic Ataxia, Type 9
Dystonia, Episodic ataxia OMIM:618924
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Inability to walk, Generalized hypotonia, Chorea, Dystonia OMIM:617804
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Dystonia, Axial hypotonia OMIM:612716
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Axial hypotonia OMIM:619647
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Dysmetria, Generalized hypotonia, Spasticity, Dystonia OMIM:617954
2,4-Dienoyl-Coa Reductase Deficiency
Neonatal hypotonia, Choreoathetosis, Spasticity, Hypotonia, Dystonia OMIM:616034
Ataxia-Oculomotor Apraxia 4
Ataxia, Dystonia OMIM:616267
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Generalized hypotonia, Chorea, Kinetic tremor, Gait ataxia, Postur... ORPHA:98756
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Rigidity, Tremor, Choreoathetosis, Dystonia, Axial hypotonia OMIM:261640
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Loss of ambulation, Infantile muscular hypotonia, Rigidity, Gait disturbance,... ORPHA:225154
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Infantile muscular hypotonia, EEG abnormality, Limb hypertonia, Chorea, Gait a... ORPHA:500180
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Oculogyric crisis, Generalized hypotonia, Dysdiadochokinesis, Gait disturbanc... ORPHA:352649
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Limb ataxia, Rigidity, Limb dystonia, Generalized dystonia OMIM:618824
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Dystonia, Interictal epileptiform activity, Hypotonia OMIM:619157
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Blepharospasm, Rigidity, Chorea, Gait disturbance, Writer's cramp, Spasticit... ORPHA:98759
Neurodevelopmental Disorder With Involuntary Movements
Generalized hypotonia, Chorea, Athetosis, Spasticity, Dystonia OMIM:617493
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Ataxia, Generalized hypotonia, Falls, Spasticity, Hypotonia, Dystonia, Axial hypotonia OMIM:619224
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Spastic gait, Hemidystonia OMIM:619052
Folinic Acid-Responsive Seizures
Broad-based gait, Hypertonia, Ataxia, Chorea, Difficulty walking, Hypsarrhythmia, Spastic tetrapa... ORPHA:79097
Neurodevelopmental Disorder With Dystonia And Seizures
EEG with photoparoxysmal response, Chorea, Athetosis, Spastic tetraplegia, Hypotonia, Dystonia OMIM:619922
Leukodystrophy, Hypomyelinating, 2
Ataxia, Spastic paraparesis, Intention tremor, Decreased motor nerve conduction velocity, Rigidit... OMIM:608804
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Dysmetria, EEG with generalized slow activity grade 4, Chorea, Tremor, Spasticity, Unstea... ORPHA:79263
Amyotrophic Lateral Sclerosis 2, Juvenile
Hypertonia, Ataxia, Upper limb spasticity, Opisthotonus, Retrocollis, Tip-toe gait, Spastic diple... OMIM:205100
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Opisthotonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Dystonia, Axi... OMIM:619653
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Opisthotonus, Oculogyric crisis, Rigidity, Falls, Chorea, Choreoathetosis, Hy... ORPHA:13
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Limb ataxia, Dysmetria, Intention tremor, Positive Romberg sign, Rigidi... OMIM:607136
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Spasticity, Abnormal posturing, ... ORPHA:216866
Combined Oxidative Phosphorylation Deficiency 13
Severe muscular hypotonia, Decreased nerve conduction velocity, Choreoathetosis, Dystonia, Axial ... OMIM:614932
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Choreoathetosis, Limb dystonia, Hypotonia OMIM:619054
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Dystonia ORPHA:36899
Spinocerebellar Ataxia 28
Limb ataxia, Somatic sensory dysfunction, Gait ataxia, Spasticity, Lower limb hypertonia, Dystonia OMIM:610246
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ataxia, Generalized hypotonia, Head titubation, Progressive spasticity, Difficulty walking, Dystonia ORPHA:527497
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Choreoathetosis, Generalized hypotonia, Dystonia, Ataxia OMIM:618416
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Oculogyric crisis, Rigidity, Chorea, Tremor, Cogwheel rigidit... OMIM:613135
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Oculogyric crisis, Generalized hypotonia, Rigidity, Focal dystonia, Gait ataxia, Limb dys... ORPHA:101150
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Difficulty walking, Dystonia OMIM:616684
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Ataxia, Dystonia OMIM:619065
Atypical Rett Syndrome
Neonatal hypotonia, Inability to walk, Loss of ambulation, EEG abnormality, Pill-rolling tremor, ... ORPHA:3095
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Rigidity, Gait disturbance, Tremor, Postural tremor, Dystonia ORPHA:314632
Mitochondrial Myopathy With Lactic Acidosis
Dysmetria, Tip-toe gait, Generalized hypotonia, Spasticity, Hypotonia, Dystonia OMIM:251950
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Dysmetria, Generalized hypotonia, Hypotonia, Dystonia OMIM:250620
Spastic Paraplegia 47, Autosomal Recessive
Neonatal hypotonia, Inability to walk, Spastic paraplegia, Spasticity, Waddling gait, Dystonia OMIM:614066
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, EEG with spike-wave complexes (>3.5 Hz), Chorea, Choreoathetosis, Hypo... OMIM:619317
Huntington Disease-Like 2
Action tremor, Rigidity, Dystonia, Chorea OMIM:606438
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Athetosis, Hypotonia, Dystonia ORPHA:382
Sporadic Infantile Bilateral Striatal Necrosis
Progressive extrapyramidal muscular rigidity, Infantile muscular hypotonia, Resting tremor, Chore... ORPHA:225147
Spinocerebellar Ataxia Type 1
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokin... ORPHA:98755
Leukodystrophy, Hypomyelinating, 14
Dystonia, Generalized hypotonia, Spasticity OMIM:617899
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, Inability to walk, Decreased nerve conduction vel... ORPHA:457205
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Dysdiadochokinesis, Spastic paraplegia, Difficulty walking, Spastic tetrapares... OMIM:612319
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Resting tremor, Rigidity, Shuffling gait, Gait ataxia, Dystonia, Sho... ORPHA:391411
Mitochondrial Complex I Deficiency, Nuclear Type 23
Generalized hypotonia, Dystonia, Hypotonia OMIM:618244
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Progressive cerebellar ataxia, Dystonia, Hypotonia ORPHA:139485
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, EEG abnormality, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Spastic dysarthria, ... ORPHA:313772
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Hypertonia, Ataxia, Axial dystonia, Inability to walk, Opisthotonus, Retr... ORPHA:300605
Dystonia 34, Myoclonic
Torticollis, Hand tremor, Head tremor, Writer's cramp, Impaired tandem gait, Dystonia OMIM:619724
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
EEG abnormality, Generalized hypotonia, Chorea, Spasticity, Dystonia OMIM:613970
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Impaired vibratory sensation, Limb dystonia, Upper limb hypertonia ORPHA:319199
Lopes-Maciel-Rodan Syndrome
Hypertonia, Tremor, Spasticity, Unsteady gait, Dystonia, Axial hypotonia OMIM:617435
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Spasticity, Abnormal posturing OMIM:304700
Mitochondrial Complex I Deficiency, Nuclear Type 26
Limb hypertonia, Choreoathetosis, Dystonia, EEG abnormality OMIM:618247
X-Linked Dystonia-Parkinsonism
Progressive extrapyramidal muscular rigidity, Blepharospasm, Torsion dystonia, Hand tremor, Resti... ORPHA:53351
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
EEG abnormality, Chorea, Choreoathetosis, Spasticity, Dystonia OMIM:618451
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Axial hypotonia OMIM:619651
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia OMIM:610181
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Gait disturbance, Tremor, Somatic sensory... ORPHA:454887
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Head tremor, Craniofacial dystonia, Writer's cramp, Difficulty walki... ORPHA:420492
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Neonatal hypotonia, Ataxia, Spastic paraplegia, Spastic tetraplegia, Unsteady gait, Dystonia OMIM:245349
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Intention tremor, Dysdiadochokinesi... OMIM:117360
Leukodystrophy, Hypomyelinating, 21
Ataxia, Dystonia, Athetosis OMIM:619310
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic ataxia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Spasticity, Dystonia OMIM:614487
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Dystonia, Falls ORPHA:240085
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romberg sign, Abno... OMIM:277460
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal muscular rigidity, Ataxia, Resting tremor, Chorea, Difficulty walking,... ORPHA:401768
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Chorea, Choreoathetosis, Hypotonia, Dystonia, Axial hypotonia OMIM:606703
Developmental And Epileptic Encephalopathy 44
Dystonia, Generalized hypotonia, Spasticity, Athetosis OMIM:617132
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia ORPHA:97
Autosomal Recessive Spastic Paraplegia Type 26
Gait disturbance, Impaired vibration sensation at ankles, Lower limb spasticity, Dystonia ORPHA:101006
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spastic dysarthria, Difficulty walking, Progressive spastic paraplegia, Spasticity, Waddling gait... ORPHA:280763
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremo... OMIM:208920
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Rigidity, Chorea, Writer's cramp, Tremor, Choreoatheto... OMIM:606159
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Generalized hypotonia, Dystonia, Hypotonia OMIM:246900
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Rigidity, Truncal ataxia, Head titubation, Tremor, Choreoathetosis... OMIM:618877
Mitochondrial Complex I Deficiency, Nuclear Type 16
Generalized hypotonia, Choreoathetosis, Spasticity, Spastic tetraplegia, Dystonia OMIM:618238
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Inability to walk, Generalized hypotonia, Athetosis, Spasticity, Loss of ability to walk in early... OMIM:612073
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Spasticity, Axial hypotonia, Hypsarrhythmia OMIM:617669
Leber Optic Atrophy And Dystonia
Dystonia, Spasticity, Athetosis OMIM:500001
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Dysmetria, Truncal ataxia, Episodic generalized hypotonia, Gait ataxia, Hypotonia, Dyston... OMIM:601338
Combined Oxidative Phosphorylation Deficiency 35
Dystonia, Generalized hypotonia, Spasticity, EEG abnormality OMIM:617873
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Athetosis OMIM:300857
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Tremor, ... OMIM:617013
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Blepharospasm, Hand tremor, Writer's cramp, Torsion dystonia OMIM:602124
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Resting tremor, Spastic paraplegia, Tremor, Shuffling gait, Choreoathetosis, Spastic tetr... OMIM:300055
Friedreich Ataxia
Gait imbalance, Inability to walk, Limb ataxia, Dysmetria, Intention tremor, Decreased motor nerv... ORPHA:95
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Chorea, Difficulty walking, Hypotonia, Paroxysmal choreoathetosis OMIM:500003
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Limb hypertonia, Rigidity, Tremor, Choreoathetosis, Dystonia OMIM:233910
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Difficulty walking, Progressive spastic paraplegia, Spasticity, Unsteady gait, Waddling g... ORPHA:464282
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Rigidity, Chorea, Spasticity, Dystonia OMIM:617672
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hypotonia ORPHA:139406
Huntington Disease-Like 3
Ataxia, Chorea, Spasticity, Unsteady gait, Dystonia OMIM:604802
16P11.2P12.2 Microduplication Syndrome
Dystonia ORPHA:261204
Huntington Disease-Like 1
EEG abnormality, Dysmetria, Generalized hypotonia, Chorea, Gait disturbance, Gait ataxia, Abnorma... ORPHA:157941
Dystonia 16
Laryngeal dystonia, Retrocollis, Gait disturbance, Limb dystonia, Postural tremor OMIM:612067
3-Methylglutaconic Aciduria, Type I
Ataxia, Athetosis, Spasticity, Spastic tetraplegia, Dystonia OMIM:250950
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Ataxia, Dystonia ORPHA:459033
Primary Dystonia, Dyt4 Type
Torticollis, Blepharospasm, Laryngeal dystonia, Dysdiadochokinesis, Gait disturbance, Upper limb ... ORPHA:98805
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Spasticity, Dystonia OMIM:618917
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized hypotonia, Chorea, Gait atax... ORPHA:251347
Developmental And Epileptic Encephalopathy 16
Dystonia, Generalized hypotonia, Severe muscular hypotonia OMIM:615338
Developmental And Epileptic Encephalopathy 1
Hypertonia, EEG with burst suppression, Choreoathetosis, Hypsarrhythmia, Spastic tetraparesis, Dy... OMIM:308350
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Tremor, Dystonia ORPHA:96
Progressive Myoclonic Epilepsy With Dystonia
EEG with irregular generalized spike and wave complexes, Dystonia, Generalized neonatal hypotonia ORPHA:352596
Infantile Dystonia-Parkinsonism
Hypertonia, Limb hypertonia, Oculogyric crisis, Chorea, Dystonia, Axial hypotonia ORPHA:238455
Sulfite Oxidase Deficiency, Isolated
Hypertonia, Ataxia, Infantile muscular hypotonia, Generalized hypotonia, Choreoathetosis, Multifo... OMIM:272300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Generalized hypotonia, Choreoathetosis, Hypotonia, Dystonia, Episodic ataxia OMIM:312170
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Gait ataxia, Lower limb spasticity, Dystonia OMIM:604391
Pyruvate Dehydrogenase E2 Deficiency
Neonatal hypotonia, Choreoathetosis, Paroxysmal dystonia, Ataxia OMIM:245348
Continuous Spikes And Waves During Sleep
Continuous spike and waves during slow sleep, EEG with generalized polyspikes, EEG with frontal f... ORPHA:725
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Oculogyric crisis, Rigidity, Gait disturbance, Tremor, Difficult... ORPHA:255
Aicardi-Goutieres Syndrome 3
Dystonia, Generalized hypotonia, Spasticity, Hypotonia OMIM:610329
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Inability to walk, Intention tremor, Progressive spastic quadriplegia, ... OMIM:312080
Spinocerebellar Ataxia Type 6
Progressive cerebellar ataxia, Blepharospasm, Intention tremor, Gait ataxia, Unsteady gait, Dystonia ORPHA:98758
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Rigidity, Chorea,... OMIM:607483
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Resting tremor, Rigidity, Postural tremor, Dystonia OMIM:619911
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Spasticity, Progressive gait ataxia, ... ORPHA:157946
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Inability to walk, Generalized hypotonia, Chorea, EEG with abnormally slow frequencies, S... ORPHA:70472
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ataxia, Dysmetria, Intention tremor, Infantile axial hypotonia, Difficulty walking, Lower limb hy... ORPHA:438114
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Dysmetria, Tremor, Spasticity, Postural tremor, Dystonia OMIM:607694
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Cogwheel rigidity... OMIM:607454
Autosomal Dominant Spastic Paraplegia Type 9B
Loss of ambulation, Spastic dysarthria, Progressive gait ataxia, Focal dystonia, Spastic gait, Po... ORPHA:447757
Spinocerebellar Ataxia Type 8
Ataxia, Limb ataxia, Impaired vibratory sensation, Rigidity, Spastic dysarthria, Gait ataxia, Spa... ORPHA:98760
Kufor-Rakeb Syndrome
Torticollis, Hypertonia, Ataxia, Akinesia, Rigidity, Distal sensory impairment, Spastic paraplegi... OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait OMIM:619405
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Dystonia, Resting tremor OMIM:605909
Baralle-Macken Syndrome
Dystonia, Neonatal hypotonia, Inability to walk, Spasticity OMIM:619255
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Tremor, Dystonia OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Choreoathetosis, Dystonia, Axial hypotonia OMIM:619422
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Upper limb postura... ORPHA:420485
Posttransplant Acute Limbic Encephalitis
EEG with focal epileptiform discharges, Ataxia, Dystonia, EEG with abnormally slow frequencies ORPHA:163921
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Chorea, Tremor, Dystonia OMIM:619738
Caribbean Parkinsonism
Action tremor, Rigidity, Dystonia, Progressive gait ataxia ORPHA:97355
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Difficulty walking, Generalized hypotonia, Dystonia ORPHA:306669
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Generalized hypotonia, Choreoathetosis, Spasticity, Dystonia OMIM:617664
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Dysmetria, Impaired vibration sensation in the lower limbs, Intention tremor, Impaired di... ORPHA:447896
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Inability to walk, Tremor, Shuffling... ORPHA:52368
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Generalized hypotonia, Chorea, Gait disturbance, Spa... OMIM:250100
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Dysmetria, Spasticity, Dystonia, Axial hypotonia OMIM:618087
Episodic Ataxia, Type 2
Paresthesia, Progressive cerebellar ataxia, Dystonia, Episodic ataxia OMIM:108500
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Head titubation, Hypsarrhythmia, Hypotonia, Dystonia ORPHA:88639
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Dystonia, Spastic tetraplegia, Hypotonia OMIM:619301
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dystonia ORPHA:289494
Leukodystrophy, Hypomyelinating, 15
Ataxia, Loss of ambulation, Intention tremor, Athetosis, Spasticity, Dystonia OMIM:617951
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Dystonia ORPHA:98757
Developmental And Epileptic Encephalopathy 64
Inability to walk, Limb hypertonia, Generalized hypotonia, Chorea, Dystonia OMIM:618004
Leigh Syndrome With Leukodystrophy
Progressive cerebellar ataxia, Progressive spastic paraplegia, Spasticity, Hypotonia, Dystonia ORPHA:255241
Harel-Yoon Syndrome
Ataxia, Inability to walk, Spasticity, Hypotonia, Dystonia, Axial hypotonia OMIM:617183
Foxg1 Syndrome
Inability to walk, Difficulty walking, Choreoathetosis, Spasticity, Hypotonia, Dystonia ORPHA:561854
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Generalized hypotonia, Inability to walk, Dystonia OMIM:611890
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Rigidity, Dystonia OMIM:600795
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Dystonia, Ataxia, Spasticity OMIM:617341
Autosomal Recessive Spastic Paraplegia Type 78
Progressive cerebellar ataxia, Progressive spastic quadriplegia, Difficulty walking, Progressive ... ORPHA:513436
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Neonatal hypotonia, Ataxia, Truncal ataxia, Spasticity, Dystonia OMIM:252011
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Blepharospasm, Progressive cerebellar ataxia, Limb... ORPHA:101
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Extrapyramidal muscular rigidity, Tremor by anatomical site, Rig... ORPHA:99750
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Dystonia, Spastic tetraplegia, Hypotonia OMIM:619302
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Generalized hypotonia, Chorea, Hypotonia, Spastic tetra... OMIM:272750
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Generalized hypotonia, Dystonia OMIM:618226
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Generalized hypotonia, Difficulty walking, Gait ataxia, Spasticity, Unsteady gait, Facial hypoton... OMIM:617807
Mitochondrial Membrane Protein-Associated Neurodegeneration
Hand tremor, Spastic paraparesis, Rigidity, Gait disturbance, Shuffling gait, Spasticity, Dystonia ORPHA:289560
Hereditary Methemoglobinemia
Hypertonia, Athetosis, Spastic tetraplegia, Spasticity, Limb dystonia ORPHA:621
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, EEG with burst suppression, Hypsarrhythmia, Hypotonia, Dystonia ORPHA:439218
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia OMIM:619025
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Rigidity, Dystonia, Spastic paraparesis OMIM:300894
Pyruvate Dehydrogenase Deficiency
Ataxia, Gait disturbance, Tremor, Choreoathetosis, Spasticity, Hypotonia, Dystonia ORPHA:765
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Loss of ambulation, Dystonia OMIM:167320
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
EEG abnormality, Progressive cerebellar ataxia, Dystonia OMIM:618868
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Generalized hypotonia, Spasticity, Hypotonia OMIM:614702
Developmental And Epileptic Encephalopathy 84
Opisthotonus, Generalized hypotonia, Chorea, EEG with burst suppression, Spasticity, Hypsarrhythm... OMIM:618792
Dystonia 26, Myoclonic
Torticollis, Dystonia, Blepharospasm, Laryngeal dystonia OMIM:616398
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypertonia, Neonatal hypotonia, Dystonia OMIM:264470
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Rasmussen Subacute Encephalitis
EEG with focal spikes, Inability to walk, Hemidystonia, Continuous spike and waves during slow sl... ORPHA:1929
Progressive Supranuclear Palsy-Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Rigidity, Tremor, Somatic sensory dysfunction, Foca... ORPHA:240103
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Head tremor, Somatic sensory dysfunction, Choreoathetosis, Postural tremo... ORPHA:64753
Rett Syndrome
EEG abnormality, Gait apraxia, Truncal ataxia, Gait ataxia, Spasticity, Dystonia OMIM:312750
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Generalized hypotonia, Spastic tetraplegia OMIM:618237
Dystonia, Juvenile-Onset
Loss of ambulation, Leg dystonia, Oculogyric crisis, Generalized dystonia OMIM:607371
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Tremor, Gait ataxia, Spasticity, Dystonia OMIM:614381
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Generalized hypotonia, Dystonia, Hypotonia OMIM:614654
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Difficulty walking, Spastic paraparesis ORPHA:397725
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Resting tremor, Intention tremor, Chorea, Cogwheel rigidity, Dystonia OMIM:619725
Liang-Wang Syndrome
Ataxia, Dystonia, Axial hypotonia OMIM:618729
Leukodystrophy, Hypomyelinating, 20
Torticollis, Hypertonia, Dystonia, Spastic tetraplegia OMIM:619071
Infantile Neuroaxonal Dystrophy
Ataxia, Progressive spasticity, Gait disturbance, Spasticity, Unsteady gait, Spastic tetraparesis... ORPHA:35069
Neuroferritinopathy
Leg dystonia, Blepharospasm, Resting tremor, Chorea, Writer's cramp, Difficulty walking, Focal dy... ORPHA:157846
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hypertonia, Infantile muscular hypotonia, Dystonia ORPHA:26792
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Rigidity, Dystonia, Spastic paraparesis ORPHA:329284
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Dystonia, Axial hypotonia ORPHA:70594
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Decreased motor nerve conduction velocity, Head tremor, Chorea, Tremor, Impaired dis... OMIM:606002
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Glutaric Acidemia I
Opisthotonus, Spastic diplegia, Generalized hypotonia, Rigidity, Choreoathetosis, Hypotonia, Dyst... OMIM:231670
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Dystonia,... OMIM:617710
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Dystonia, Chorea, Hypotonia ORPHA:289916
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Generalized hypotonia, Choreoathetosis, Limb dystonia, Lower... ORPHA:319514
3-Methylglutaconic Aciduria, Type Viii
Tremor, Generalized hypotonia, Dystonia, Hypertonia OMIM:617248
Huntington Disease
Gait imbalance, Inability to walk, Rigidity, Chorea, Gait disturbance, Difficulty walking, Dystonia ORPHA:399
Pelizaeus-Merzbacher Disease
Ataxia, Gait disturbance, Choreoathetosis, Spasticity, Hypotonia, Dystonia ORPHA:702
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Generalized hypotonia, Spasticity, Hypotonia OMIM:616277
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Spasticity, Spastic tetraplegia, Hypotonia, Dystonia OMIM:619616
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Tip-toe gait, Decerebrate rigidity, Generalized hypotonia, G... ORPHA:309256
Leigh Syndrome
Ataxia, Generalized hypotonia, Spasticity, Hypotonia, Dystonia OMIM:256000
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Progressive spastic quadriplegia, Chorea, Infantile axial hypotonia... ORPHA:309246
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Progressive extrapyramidal muscular rigidity, Axial dystonia, Blepharospasm, Akin... ORPHA:240071
Chromosome 18P Deletion Syndrome
Dystonia OMIM:146390
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Ataxia, Pain insensitivity, Generalized hypotonia, Painless fractures due to injury, Hypotonia, D... OMIM:256810
Autosomal Dominant Cerebellar Ataxia
Torticollis, Impaired proprioception, Akinesia, Action tremor, Progressive cerebellar ataxia, Lar... ORPHA:99
Leber Optic Atrophy
Postural tremor, Dystonia, Ataxia OMIM:535000
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Generalized hypotonia, Spasticity, Hypotonia, Dystonia OMIM:614739
Hengel-Maroofian-Schols Syndrome
Gait imbalance, Inability to walk, Spasticity, Hypotonia, Dystonia OMIM:619641
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Intention tremor, Generalized hypotonia, Truncal ataxia, Hypotonia, Dystonia OMIM:614407
Mitochondrial Complex I Deficiency, Nuclear Type 8
Generalized hypotonia, Dystonia OMIM:618230
Developmental And Epileptic Encephalopathy 86
Generalized hypotonia, Dystonia OMIM:618910
Multiple System Atrophy
Axial dystonia, Progressive cerebellar ataxia, Resting tremor, Rigidity, Gait ataxia, Postural tr... ORPHA:102
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Intention tremor, Impaired distal proprioception, Positive Romberg sign, Rigidity, T... OMIM:258450
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Chorea, Athetosis, Hypotonia, Dystonia ORPHA:52503
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Impaired vibration sensation in the lower limbs, Rigidity, Gait ataxia, Limb... ORPHA:98808
Kaya-Barakat-Masson Syndrome
Generalized hypotonia, Spastic tetraplegia, Spasticity, Limb dystonia, Axial hypotonia OMIM:619125
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Axial dystonia, Progressive cerebellar ataxia, Resting tremor, Limb ataxia, Rig... ORPHA:227510
Siddiqi Syndrome
Limb dystonia OMIM:618635
Mucolipidosis Iv
Dystonia, Generalized hypotonia, Spastic tetraplegia, Hypotonia OMIM:252650
Machado-Joseph Disease
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Impaired vibratory sensation, Rigidity, Trunc... OMIM:109150
Christianson Syndrome
Truncal ataxia, Gait ataxia, Dystonia ORPHA:85278
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Dystonia, Axial hypotonia OMIM:616299
Galactosemia
Gait imbalance, Ataxia, Action tremor, Gait disturbance, Postural tremor, Dystonia ORPHA:352
Gaucher Disease Type 2
Dystonia, Spasticity ORPHA:77260
Oromandibular Dystonia
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Limb dystonia, Generalized dyst... ORPHA:93958
Manganese Poisoning
Hypertonia, Akinesia, Gait disturbance, Cogwheel rigidity, Postural tremor, Dystonia ORPHA:306682
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Rigidity, Tremor, Dystonia, Steppage gait OMIM:613280
Allan-Herndon-Dudley Syndrome
Neonatal hypotonia, Ataxia, Limb hypertonia, Choreoathetosis, Spasticity, Spastic tetraplegia, Dy... ORPHA:59
Jaberi-Elahi Syndrome
Broad-based gait, Inability to walk, Dysmetria, Appendicular spasticity, Tremor, Choreoathetosis,... OMIM:617988
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Hypertonia, Broad-based gait, Frog-leg posture, Gait disturbance, Difficulty... ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Loss of ambulation, Gait disturbance, Tremor, Spasticity, Dystoni... OMIM:614298
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ataxia, Rigidity, Chorea, Craniofacial dystoni... ORPHA:48818
Progressive Supranuclear Palsy
Blepharospasm, Rigidity, Falls, Tremor, Unsteady gait, Dystonia ORPHA:683
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Tremor, Gait ataxia, Spasticity, Limb dystonia ORPHA:363400
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Gait disturbance, Postural tremor, Dystonia ORPHA:79239
Pyruvate Dehydrogenase E1-Alpha Deficiency
EEG with focal spikes, Ataxia, Inability to walk, EEG with focal sharp waves, EEG with generalize... ORPHA:79243
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Chorea, Spasticity, Limb dystonia, Axial hypotonia OMIM:616339
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Progressive cerebellar ataxia, Resting tremor, Rigidity, Gait ataxia, Postural tr... ORPHA:98933
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Resting tremor, Rigidity, Postural tremor OMIM:606324
Rett Syndrome
Inability to walk, Infantile muscular hypotonia, EEG abnormality, Gait disturbance, Difficulty wa... ORPHA:778
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Ataxia, Inability to walk, EEG abnormality, Generalized hypotonia, Chorea, Athetosis, Tremor, Dif... OMIM:615356
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Intention tremor, Decerebrate rigidity, Generalized hypotoni... ORPHA:309263
Alzheimer Disease 3
Spastic tetraparesis, Dystonia, Gait disturbance OMIM:607822
Myopathy With Extrapyramidal Signs
Ataxia, Chorea, Tremor, Difficulty walking, Choreoathetosis, Hypotonia, Dystonia OMIM:615673
Autosomal Recessive Ataxia, Beauce Type
Neonatal hypotonia, Ataxia, Dysmetria, Impaired vibratory sensation, Gait disturbance, Spasticity... ORPHA:88644
Parkinson Disease 20, Early-Onset
Tremor, Shuffling gait, Rigidity, Dystonia OMIM:615530
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Neonatal hypotonia, Nonprogressive cerebellar ataxia, Progressive spastic quadriplegia, Choreoath... ORPHA:431361
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Dystonia, Hypotonia ORPHA:79312
Autosomal Recessive Spastic Paraplegia Type 77
Loss of ambulation, Intention tremor, Progressive spastic paraplegia, Scissor gait, Lower limb sp... ORPHA:466722
Developmental And Epileptic Encephalopathy 51
Inability to walk, Dystonia OMIM:617339
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Oculogyric crisis, Ath... OMIM:608643
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Intention tremor, Decerebrate rigidity, Generalized hypotoni... ORPHA:309271
Pontocerebellar Hypoplasia, Type 2B
Opisthotonus, Limb hypertonia, Chorea, Spasticity, Hypotonia, Dystonia, Axial hypotonia OMIM:612389
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Spastic diplegia, Tremor, Generalized hypotonia, Dystonia ORPHA:480907
Combined Oxidative Phosphorylation Deficiency 27
Severe muscular hypotonia, Opisthotonus, Chorea, Hypotonia, Multifocal epileptiform discharges, D... OMIM:616672
Perry Syndrome
Akinesia, Rigidity, Tremor, Dystonia, Short stepped shuffling gait OMIM:168605
Pontocerebellar Hypoplasia Type 2
Upper limb hypertonia, Infantile axial hypotonia, Choreoathetosis, Spasticity, Lower limb hyperto... ORPHA:2524
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Rigidity, Gait disturbance, Shuffling gait, Dystonia OMIM:168601
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Gait disturbance, Dystonia OMIM:617903
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Neonatal hypotonia, Dystonia OMIM:614924
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Dysmetria, Intention tremor, Dysdiadochokinesis, Chorea, Gait ataxia, Spasticity, Dys... OMIM:610217
Hsd10 Disease, Infantile Type
Loss of ambulation, Spastic diplegia, Choreoathetosis, Hypotonia, Spastic tetraparesis, Dystonia ORPHA:391428
Birk-Landau-Perez Syndrome
Appendicular hypotonia, Limb ataxia, Limb hypertonia, Difficulty walking, Choreoathetosis, Facial... OMIM:617595
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Gait ataxia, Spastic tetraplegia, Hypsarrhythmia, Dystonia, Axial hypotonia, Gene... OMIM:618321
Parkinson Disease, Late-Onset
Resting tremor, Rigidity, Tremor, Dystonia, Short stepped shuffling gait OMIM:168600
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Rigidity, Spasticity, Limb dystonia OMIM:616840
Lesch-Nyhan Syndrome
Opisthotonus, Generalized hypotonia, Choreoathetosis, Spasticity, Hypotonia, Dystonia OMIM:300322
Gm1-Gangliosidosis, Type Iii
Dystonia OMIM:230650
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Spastic tetraparesis, EEG abnormality, Dystonia OMIM:617668
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Loss of ambulation, Impaired vibration sensation in the lower limbs, Gait disturbance, Writer's c... ORPHA:324442
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Severe muscular hypotonia, Exaggerated startle response, Facial hypoton... ORPHA:438216
Niemann-Pick Disease, Type C1
Ataxia, Generalized hypotonia, Gait ataxia, Spasticity, Hypotonia, Dystonia OMIM:257220
Fatty Acid Hydroxylase-Associated Neurodegeneration
Loss of ambulation, Falls, Progressive spastic quadriplegia, Progressive spastic paraparesis, Pro... ORPHA:329308
Pantothenate Kinase-Associated Neurodegeneration
Leg dystonia, Loss of ambulation, Tip-toe gait, Intention tremor, Rigidity, Craniofacial dystonia... ORPHA:157850
Autosomal Dominant Non-Syndromic Intellectual Disability
Severe muscular hypotonia, Oculogyric crisis, Chorea, Spasticity, Hypotonia, Dystonia ORPHA:178469
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Generalized hypotonia, Dystonia, Hypotonia OMIM:277410
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Severe muscular hypotonia, Rigidity, Chorea, Athetosis, Tremor, Limb dystonia, Dystonia ORPHA:25
Combined Malonic And Methylmalonic Acidemia
Dystonia, Axial hypotonia ORPHA:289504
Metachromatic Leukodystrophy
Ataxia, Infantile muscular hypotonia, Decreased nerve conduction velocity, Tip-toe gait, Decerebr... ORPHA:512
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Decreased motor nerve conduction velocity, Axial dystonia, Decreased sensory ... OMIM:619026
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ataxia, Generalized hypotonia, Difficulty walking, Choreoathetosis, Hypotonia, ... OMIM:610978
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Axial dystonia, Hand tremor, Resting tremor, Pill-rolling tremor, Rigidity, T... OMIM:612953
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Athetosis, Spasticity, Hypotonia, Dystonia ORPHA:357058
Postencephalitic Parkinsonism
Akinesia, Resting tremor, Tremor by anatomical site, Oculogyric crisis, Rigidity, Cogwheel rigidi... ORPHA:97349
Aicardi-Goutieres Syndrome 4
Dystonia, Spasticity OMIM:610333
Rett Syndrome, Congenital Variant
Neonatal hypotonia, EEG abnormality, Generalized hypotonia, Chorea, Athetosis, Spasticity, Dystonia OMIM:613454
Trichothiodystrophy 8, Nonphotosensitive
Spastic diplegia, Spasticity, Craniofacial dystonia, Head titubation OMIM:619691
Pontocerebellar Hypoplasia, Type 2A
Dystonia, Opisthotonus, Chorea OMIM:277470
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Generalized hypotonia, Dystonia, Hypotonia OMIM:614105
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia OMIM:300475
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Loss of ambulation, EEG abnormality, Decreased nerve conduction velocity, Tip-toe g... ORPHA:565624
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Dystonia, Spasticity OMIM:607236
Cimdag Syndrome
Ataxia, Chorea, Spasticity, Hypotonia, Dystonia OMIM:619273
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Hypertonia, Neonatal hypotonia, Gait disturbance, Spasticity, Hypotonia, Dyston... OMIM:300352
Machado-Joseph Disease Type 1
Dystonia, Progressive cerebellar ataxia, Spasticity, Progressive gait ataxia ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Progressive cerebellar ataxia, Spasticity, Progressive gait ataxia ORPHA:276241
Choreoacanthocytosis
Progressive choreoathetosis, Dystonia OMIM:200150
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Dystonia, Hypotonia OMIM:616977
Dystonia-Aphonia Syndrome
Oromandibular dystonia, Gait disturbance, Unsteady gait, Generalized dystonia ORPHA:412217
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypotonia, Ataxia, Opisthotonus, Tremor, Choreoathetosis, Spasticity, Hypotonia, Dystonia OMIM:616271
Congenital Disorder Of Glycosylation, Type Ii
Generalized hypotonia, Dystonia, Hypsarrhythmia OMIM:607906
Parkinsonian-Pyramidal Syndrome
Intention tremor, Rigidity, Shuffling gait, Spasticity, Dystonia ORPHA:171695
Filippi Syndrome
Dystonia OMIM:272440
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Neonatal hypotonia, Inability to walk, Infantile muscular hypotonia, EEG abnormality, EEG with fr... ORPHA:457351
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Spastic tetraparesis, Dystonia ORPHA:404451
Gm1 Gangliosidosis
Ataxia, Decerebrate rigidity, Generalized hypotonia, Gait disturbance, Tremor, Spasticity, Unstea... ORPHA:354
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Dystonia, Spasticity, Hypotonia OMIM:619286
Young-Onset Parkinson Disease
Gait imbalance, Rigidity, Tremor, Spasticity, Dystonia ORPHA:2828
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Infantile muscular hypotonia, Dysmetria, Limb hypertonia, Athetosis, Infantile axial hypo... ORPHA:572798
Tay-Sachs Disease
Inability to walk, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Decerebrate rigid... ORPHA:845
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Spasticity, Spastic tetraplegia, Dystonia, Axial hypotonia ORPHA:208447
Nabais Sa-De Vries Syndrome, Type 2
Neonatal hypotonia, Dystonia, Chorea OMIM:618829
Beta-Ureidopropionase Deficiency
Neonatal hypotonia, Dystonia, Hypsarrhythmia OMIM:613161
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Hypotonia OMIM:614857
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Spastic paraparesis, Dysdiadochokinesis, Rigidity, Truncal ataxia, Gai... ORPHA:309854
Coach Syndrome 1
Ataxia, Generalized hypotonia, Spasticity, Hypotonia, Dystonia OMIM:216360
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Spastic diplegia, Generalized hypotonia, Gait disturbance, Gait ataxia, Spastic tetrapleg... OMIM:616878
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Dystonia ORPHA:453533
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Dystonia, Falls, Hypotonia OMIM:618222
Dilated Cardiomyopathy With Ataxia
Neonatal hypotonia, Action tremor, Ataxia, Lower limb spasticity, Dystonia ORPHA:66634
Machado-Joseph Disease Type 3
Dystonia, Progressive cerebellar ataxia, Spasticity, Progressive gait ataxia ORPHA:276244
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Dysmetria, Intention tremor, Head titubation, Dystonia OMIM:619708
Alg3-Cdg
Spastic tetraparesis, Hypertonia, Dystonia, Hypotonia ORPHA:79321
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Dystonia, Hypotonia OMIM:619167
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, EEG abnormality, Infantile muscular hypotonia, EEG with spike-wave complexes, EEG with se... ORPHA:522077
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Ataxia, Generalized hypotonia, Choreoathetosis, Hypotonia, Dystonia OMIM:615471
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Increased theta frequency activity in EEG, Paroxysmal dystonia, Interictal... ORPHA:98784
Leukodystrophy, Progressive, Early Childhood-Onset
Dystonia, Spasticity OMIM:617762
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Spasticity OMIM:618186
Early Infantile Epileptic Encephalopathy
EEG abnormality, Infantile muscular hypotonia, EEG with spike-wave complexes, EEG with burst supp... ORPHA:1934
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Inability to walk, Spastic ataxia, Spastic diplegia, Infantile axial hypotonia, Spas... ORPHA:300570
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Spasticity, Axial hypotonia, Hypsarrhythmia ORPHA:500144
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Dysdiadochokinesis, Spastic paraplegia, Difficulty walking, Lower limb hypertonia, Spa... ORPHA:171629