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Gene: Lamb1 MGI:96743

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Lamb1em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof... OMIM:619565
Autosomal Dominant Focal Dystonia, Dyt25 Type
Laryngeal dystonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Lingual dystonia, Torti... ORPHA:329466
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Difficulty walking, Spastic paraplegia, Dystonia, Laryngeal dystonia OMIM:619681
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Gait disturbance, Torticollis, Focal dystonia OMIM:620456
Dystonia 4, Torsion, Autosomal Dominant
Hemidystonia, Generalized dystonia, Limb dystonia, Gait ataxia, Torticollis, Torsion dystonia OMIM:128101
Dystonia 30
Arm dystonia, Leg dystonia, Loss of ambulation, Oromandibular dystonia, Torticollis, Dystonia, Wr... OMIM:619291
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Torticollis, Progressive cerebellar ataxia OMIM:611694
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Difficulty walking, Dystonia, Sensory ataxia, Rigidity OMIM:619661
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
EEG with parietal sharp waves, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Wr... ORPHA:163727
Dystonia 25
Limb dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia OMIM:615073
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Tremor, Gait disturbance, Ataxia, Dystonia OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Tip-toe gait, Unsteady gait, Spastic gait, Dystonia ORPHA:320411
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3
Spasticity, Limb ataxia, Rigidity, Loss of ambulation, Lower limb spasticity, Dystonia, Upper lim... OMIM:620447
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Spastic paraplegia, Dystonia, Tip-toe gait, Unsteady gait OMIM:615030
Dystonia 33
Spasticity, Limb dystonia, Axial dystonia, Dystonia, Axial hypotonia OMIM:619687
Primary Dystonia, Dyt17 Type
Craniofacial dystonia, Generalized dystonia, Torticollis ORPHA:370103
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis, Writer's cramp, Torsion dystoni... OMIM:602629
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Hypotonia, Tremor, Hypsarrhy... ORPHA:599373
Spastic Ataxia 1, Autosomal Dominant
Dystonia, Spastic paraplegia, Spastic ataxia, Gait disturbance OMIM:108600
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Striatonigral Degeneration, Childhood-Onset
Hypotonia, Loss of ambulation, Craniofacial dystonia, Steppage gait, Hypertonia, Unsteady gait, D... OMIM:617054
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Dystonia, Gait disturbance, Spastic tetraparesis, Spasticity OMIM:620515
Episodic Kinesigenic Dyskinesia 3
Dystonia, Choreoathetosis, Torticollis OMIM:620245
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Torticollis, Ataxia, Dystonia, Axial hypotonia OMIM:618425
Dystonia 23
Head tremor, Limb dystonia, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Developmental And Epileptic Encephalopathy 92
Spasticity, Difficulty walking, Inability to walk, EEG abnormality, Ataxia, Dystonia OMIM:617829
Sandhoff Disease, Adult Form
Spasticity, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dystonia, Gait ataxia, Rigidity, Spasticity OMIM:620448
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Developmental And Epileptic Encephalopathy 7
EEG with burst suppression, Dystonia, Spastic tetraparesis, Hypotonia OMIM:613720
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, EEG abnormality, Dystonia, Axial hypotonia OMIM:618760
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Spastic gait, Dystonia, Cogwheel rigidity, Hypertonia OMIM:618284
Dystonia 17, Torsion, Autosomal Recessive
Focal dystonia, Torticollis OMIM:612406
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia, Torticollis OMIM:118800
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Normal interictal EEG, Paroxysmal dystonia OMIM:602066
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Tremor, Craniofacial dystonia, Gait di... OMIM:617284
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:128200
Developmental And Epileptic Encephalopathy 17
Inability to walk, EEG with burst suppression, Chorea, Hypsarrhythmia, Dystonia, Athetosis OMIM:615473
Spastic Paraplegia 87, Autosomal Recessive
Spastic gait, Dystonia, Lower limb spasticity, Upper limb spasticity OMIM:619966
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lower limb spasticity, T... OMIM:620453
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dystonia, Choreoathetosis ORPHA:98811
Paroxysmal Kinesigenic Dyskinesia
Dystonia, Chorea, Athetosis, Writer's cramp ORPHA:98809
Developmental And Epileptic Encephalopathy 69
Inability to walk, Hypsarrhythmia, EEG abnormality, Dystonia, Spastic tetraplegia, Axial hypotonia OMIM:618285
Dentatorubral-Pallidoluysian Atrophy
Dystonia, Chorea, Choreoathetosis, Ataxia OMIM:125370
Spinocerebellar Ataxia Type 11
Difficulty walking, Dystonia, Gait imbalance, Progressive cerebellar ataxia ORPHA:98767
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigidity, Torticollis, Writer'... OMIM:128230
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spasticity, Gait ataxia, Dysmetria, Spastic ataxia, Dystonia, Spastic dysarthria, Progressive cer... ORPHA:314603
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Ataxia, Dystonia, Athetosis, Axial hypotonia OMIM:615159
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Kinetic tremor ORPHA:101109
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Rigidity, Ataxia, Dystonia ORPHA:401901
Dystonia 32
Limb dystonia, Torticollis, Laryngeal dystonia OMIM:619637
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Generalized hypotonia, Inability to walk... OMIM:128100
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Gait ataxia, Tremor, Rigidity, Axial hypotonia OMIM:605407
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Spasticity, Inability to walk, Hypotonia, EEG abnormality, Dystonia OMIM:617820
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Chorea, EEG abnormality, Ataxia, Dystonia, Axial hypotonia OMIM:619150
Alternating Hemiplegia Of Childhood 1
Dystonia, Choreoathetosis OMIM:104290
Spinocerebellar Ataxia, Autosomal Recessive 29
Generalized dystonia, Inability to walk, Hypotonia, Lower limb spasticity, Ataxia, Axial hypotonia OMIM:619389
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Hypsarrhythmia, Spastic tetraplegia, Axial hypotonia OMIM:251280
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Ataxia OMIM:619196
Episodic Kinesigenic Dyskinesia 2
Dystonia, Chorea OMIM:611031
Paroxysmal Non-Kinesigenic Dyskinesia
Chorea, Rigidity, Torticollis, Dystonia, Choreoathetosis ORPHA:98810
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Oxoglutarate Dehydrogenase Deficiency
Falls, Hypotonia, Gait ataxia, Dysmetria, Rigidity, Unsteady gait, Dystonia OMIM:203740
3-Methylglutaconic Aciduria Type 1
Dystonia, Spastic tetraparesis, Progressive cerebellar ataxia ORPHA:67046
Neurodegeneration With Brain Iron Accumulation 7
Hypotonia, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Axial ... OMIM:617916
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Hypotonia, Positive Romberg sign, Dysmetria, Loss of ambulation, Ataxia, Dystonia, Ch... OMIM:618088
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized hypotonia, Tremor, Rigidity, EEG abnormality, Ataxia, Dystonia OMIM:617836
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor OMIM:314250
Primary Dystonia, Dyt21 Type
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Axial dystonia, Paroxysma... ORPHA:306734
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Gait disturbance, Lower limb spasticity, Dystonia, Upper limb sp... OMIM:618418
Cerebellar Ataxia, Cayman Type
Broad-based gait, Hypotonia, Gait ataxia, Ataxia, Truncal ataxia, Dystonia, Intention tremor OMIM:601238
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance ORPHA:98934
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Hypotonia, Loss of ambulation, Ataxia, Choreoathetosis OMIM:620427
Alternating Hemiplegia Of Childhood 2
Dystonia, Choreoathetosis, Ataxia OMIM:614820
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Dysdiadochokinesis, Progressive cerebellar... OMIM:604326
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Dyston... OMIM:614898
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Gait ataxia, Tremor, Torticollis, Ataxia, Dystonia, Axial hypotonia OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Hypotonia, Limb ataxia, Gait ataxia, Appendicular hypotonia, Dysmetria, Unstead... OMIM:616127
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Oculogyric crisis, Generalized hypotonia, Limb hypertonia, Hypertonia, Dystonia... OMIM:617384
Primary Dystonia, Dyt2 Type
Blepharospasm, Generalized dystonia, Difficulty walking, Limb dystonia, Tremor, Torticollis, Tors... ORPHA:99657
Developmental And Epileptic Encephalopathy 27
Spasticity, Hypotonia, Chorea, Hypsarrhythmia, Dystonia, Axial hypotonia OMIM:616139
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Spastic tetraplegia, Infantile muscular hypotonia, Ataxia ORPHA:263410
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Generalized hypotonia, Inability to walk, Hypotonia, Lower limb spasticity, Ata... OMIM:616756
Developmental And Epileptic Encephalopathy 67
Gait disturbance, Hypsarrhythmia, EEG abnormality, Dystonia, Athetosis OMIM:618141
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Spasticity, Episodic ataxia, Difficulty walking, Hypotonia, Gait ataxia, Gait disturbance, Lower ... OMIM:614458
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Choreoathetosis, Axial hypotonia, Spasticity OMIM:614249
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Positive Romberg sign, Gait ataxia... OMIM:608984
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Limb hypertonia, Dystonia, Axial hypotonia ORPHA:324588
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Dystonia, Choreoathetosis ORPHA:53583
Primary Dystonia, Dyt6 Type
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Craniofacial dystonia, Li... ORPHA:98806
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Lower limb spasticity, Ataxi... OMIM:607565
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Spasticity, Inability to walk, Hypotonia, Ataxia, Dystonia OMIM:618276
Dystonia 16
Postural tremor, Limb dystonia, Torticollis, Unsteady gait ORPHA:210571
Spinocerebellar Ataxia 14
Gait ataxia, Dysmetria, Focal dystonia, Impaired vibration sensation at ankles, Progressive cereb... OMIM:605361
Infantile Convulsions And Choreoathetosis
Chorea, Dystonia, Athetosis, Choreoathetosis, Normal interictal EEG ORPHA:31709
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Head tremor, Torticollis... OMIM:613724
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Dystonia, Generalized hypotonia OMIM:616763
Dystonia 15, Myoclonic
Dystonia, Writer's cramp OMIM:607488
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Hypotonia, Tremor, Ataxia, Dystonia, Dysdiadochokinesis, Axial... OMIM:618049
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Hypotonia, Limb ataxia, Limb dystonia, Head titubation, Torticollis, Truncal ataxia OMIM:617560
Parkinson Disease 19A, Juvenile-Onset
Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Limb hypertonia, D... OMIM:615528
Glut1 Deficiency Syndrome 2
Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypotonia, Limb dystonia, Tremor, Ataxia OMIM:620270
Hyperphenylalaninemia, Bh4-Deficient, C
Hypotonia, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Generalized hypotonia, Limb dystonia, Gait ataxia, Craniofacial dystonia, Tortico... ORPHA:71517
Dystonia 12
Tremor, Dystonia, Torticollis, Unsteady gait OMIM:128235
Glut1 Deficiency Syndrome 1
Spasticity, Paroxysmal dystonia, EEG abnormality, Ataxia, Choreoathetosis OMIM:606777
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia ORPHA:1171
Leukodystrophy, Hypomyelinating, 18
Spasticity, Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity, Dysmet... OMIM:618404
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Hypotonia, Rigidity, Gait disturbance, Ataxia, Dystonia OMIM:618239
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Oromandibular dystonia, Dystonia, ... OMIM:615643
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Gait disturbance, Dystonia, Athetosis, Dysdiadochokinesis OMIM:213600
Partington Syndrome
Lower limb spasticity, Gait disturbance, Limb dystonia, EEG abnormality ORPHA:94083
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Tremor, Rigidity, Gait disturbance, Oromandibular dystonia, Fo... ORPHA:216873
Myoclonus-Dystonia Syndrome
Dystonia, Torticollis, Writer's cramp ORPHA:36899
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Hand tremor, Writer's cramp OMIM:608105
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Infantile muscular hypotonia, Unsteady gait, Truncal ataxia, Dystonia, In... ORPHA:453521
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Tip-toe gait, Difficulty walking, Dysmetria, Lo... OMIM:609195
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Spasticity, Tremor, Ataxia OMIM:615924
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Ataxia, Dystonia, Dysdiadochokinesis OMIM:617145
Spastic Paraplegia 90A, Autosomal Dominant
Spastic gait, Dystonia, Axial hypotonia, Appendicular spasticity OMIM:620416
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Infantile axial hypotonia, Tremor, Loss of ambulation, Scissor gait, Oromandibular dy... ORPHA:521406
Mepan Syndrome
Hemidystonia, Spasticity, Chorea, Hypotonia, Limb dystonia, Axial dystonia, Craniofacial dystonia... ORPHA:508093
Dystonia 11, Myoclonic
Hypotonia, Writer's cramp, Tremor, Torticollis OMIM:159900
Leukodystrophy, Hypomyelinating, 25
Hypotonia, Dystonia, Gait ataxia OMIM:620243
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Difficulty walking, Abnormal exteroceptive sensation, Spasticity of facial muscles, O... OMIM:205100
Leukoencephalopathy, Cystic, Without Megalencephaly
Dystonia, Athetosis, Spasticity, Ataxia OMIM:612951
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Inability to walk, Hypotonia, Dysmetria, Ataxia, Dystonia OMIM:617954
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Limb hypertonia, EEG... ORPHA:500180
Mitochondrial Myopathy With Lactic Acidosis
Spasticity, Tip-toe gait, Hypotonia, Dysmetria, Dystonia OMIM:251950
Baker-Gordon Syndrome
Neonatal hypotonia, Inability to walk, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:618218
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Hypotonia, Gait ataxia, Intention tremor, Dysmetria, Hypertonia... OMIM:617964
Myoclonus, Familial, 2
Dystonia OMIM:618364
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Interictal epileptiform activity, Hypotonia, Dystonia, Broad-based gait OMIM:619157
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Spastic tetraparesis, Generalized hypotonia, Limb dystonia, Tr... ORPHA:352649
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, EEG abnormality, Hypertonia, Ataxia, Dystonia, Choreoathetosis ORPHA:71277
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Tremor by anatomical site, Ataxia, K... ORPHA:101110
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Rigidity, Scissor gait, Lower limb spasticity, Dystonia OMIM:260300
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Generalized hypotonia, Ataxia OMIM:618224
Partington Syndrome
Focal dystonia, Lower limb spasticity, Limb dystonia, EEG abnormality OMIM:309510
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Abnormal posturing, Generalized dystonia, Inability to walk, Opisthoton... ORPHA:216866
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Limb dystonia ORPHA:306741
Episodic Ataxia, Type 9
Dystonia, Episodic ataxia OMIM:618924
Developmental And Epileptic Encephalopathy 53
Hypotonia, Dystonia, Hypsarrhythmia, Spastic tetraplegia OMIM:617389
Juvenile Huntington Disease
Broad-based gait, Oral motor hypotonia, Chorea, Gait ataxia, Rigidity, Ataxia, Dystonia, Progress... ORPHA:248111
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Hypertonia OMIM:618824
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Inability to walk, Chorea, Hypotonia, Severe muscular hypotonia, E... OMIM:614254
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Ataxia, Dystonia OMIM:618093
Spinocerebellar Ataxia 28
Spasticity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Dystonia, Lower limb hypertonia OMIM:610246
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Hypotonia, EEG with photoparoxysmal response, Dystonia, Athetosis, Spastic tetraplegia OMIM:619922
Dystonia 9
Spastic paraplegia, Episodic ataxia, Paresthesia, Dystonia, Choreoathetosis OMIM:601042
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Spasticity, Falls, Generalized hypotonia, Hypotonia, Ataxia, Dystonia, Axial hypotonia OMIM:619224
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Spastic tetraparesis, Gait ataxia, Cogwheel rigidity, Rigidity, Loss of ambulation, G... ORPHA:225154
Spinocerebellar Ataxia Type 2
Generalized hypotonia, Chorea, Postural tremor, Gait ataxia, Kinetic tremor, Dystonia, Progressiv... ORPHA:98756
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Axial hypotonia, Tremor OMIM:619647
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Chorea, Rigidity, Gait disturbance, Torticollis, Ataxia, Dystonia, Wri... ORPHA:98759
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Dystonia... OMIM:619653
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Hypotonia, Limb dystonia, Torticollis, Ataxia, Choreoathetosis OMIM:619054
Folinic Acid-Responsive Seizures
Ataxia, Broad-based gait, Spastic tetraparesis, Difficulty walking, Chorea, Hypsarrhythmia, Hyper... ORPHA:79097
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Decreased motor nerve conduction velocity, Axial hypotonia, Rigidity, Head t... OMIM:608804
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Severe muscular hypotonia, Dystonia, Choreoathetosis, Axial ... OMIM:614932
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia ORPHA:330050
Spinocerebellar Ataxia 17
Broad-based gait, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Rigidity, A... OMIM:607136
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Interictal EEG abnormality, Chorea, Tremor, Dysmetria, Unsteady gait, Ataxia, Dystoni... ORPHA:79263
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Generalized hypotonia, Difficulty walking, Head titubation, Ataxia, Dystonia, Progressive spasticity ORPHA:527497
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Progressive extrapyramidal muscular rigidity, Infantile axial... ORPHA:225147
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, EEG with spike-wave complexes (>3.5 Hz), Hypotonia, Ataxia, Multifocal... OMIM:619317
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Ataxia OMIM:619065
Intellectual Developmental Disorder, X-Linked 111
Dystonia, Spasticity, Unsteady gait OMIM:301107
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Hemidystonia, Spastic tetraparesis OMIM:619052
Guanidinoacetate Methyltransferase Deficiency
Hypotonia, Chorea, Ataxia, Dystonia, Athetosis ORPHA:382
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Generalized hypotonia, Postural tremor, Hypotonia, Limb ... ORPHA:101150
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Gait disturbance, Dystonia ORPHA:314632
Spinocerebellar Ataxia With Epilepsy
Gait ataxia, EEG with occipital epileptiform discharges, Dysmetria, Tremor, Dystonia, Dysdiadocho... ORPHA:254881
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Chorea, Hypotonia, Limb hypertonia, Dystonia, Choreoathetosis, Axial hypotonia OMIM:606703
Ataxia-Telangiectasia-Like Disorder 1
Chorea, Hypotonia, Gait ataxia, Dysmetria, Unsteady gait, Lower limb spasticity, Ataxia, Dystonia... OMIM:604391
Pyruvate Dehydrogenase E2 Deficiency
Neonatal hypotonia, Generalized dystonia, Hypotonia, Paroxysmal dystonia, Ataxia, Dystonia, Chore... OMIM:245348
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Oromandibular dyst... OMIM:613135
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing, Tremor, Spasticity OMIM:304700
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Limb dystonia, Upper limb hypertonia, Impaired proprioception ORPHA:319199
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Hypotonia, Limb ataxia, Gait ataxia, Intention tremor, Dysm... OMIM:117360
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Ataxia OMIM:616684
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Ataxia, Hypoesthesia, Dystonia OMIM:618317
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis,... ORPHA:420492
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action potential ampl... ORPHA:457205
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Spastic tetraparesis, Difficulty walking, Dysmetria, Lower limb spasticity, A... OMIM:612319
Leukodystrophy, Hypomyelinating, 14
Dystonia, Generalized hypotonia, Spasticity OMIM:617899
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Axial hypotonia, Tremor OMIM:619651
Raynaud-Claes Syndrome
Generalized hypotonia, Hypotonia, Lower limb spasticity, Dystonia, Progressive cerebellar ataxia OMIM:300114
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypotonia, Dystonia, Generalized hypotonia OMIM:618244
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Abnormal nerve conduction velocity, Abnormality of somatosensory e... ORPHA:98755
Ataxia With Vitamin E Deficiency
Tremor, Dysmetria, Gait disturbance, Hypertonia, Ataxia, Dystonia, Dysdiadochokinesis, Abnormalit... ORPHA:96
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Hypotonia, Dystonia, Tremor, Progressive cerebellar ataxia ORPHA:139485
Leukodystrophy, Hypomyelinating, 6
Spasticity, Hypotonia, Tremor, Rigidity, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia OMIM:612438
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Resting tremor, Inability to walk, Akinesia, Gait a... ORPHA:391411
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Hypotonia, Rigidity, Opisthotonus, Hypsarrhythmia, Hypertonia, ... ORPHA:13
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysmetria, EEG abnormality, Ataxia, Dystonia, Spastic dysarthria... ORPHA:313772
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Spastic diplegia, Retr... ORPHA:300605
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Generalized hypotonia, Chorea, Multifocal epileptiform discharges, Dystonia, Athetosis OMIM:617493
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Hypotonia, Dystonia OMIM:620359
Spastic Paraplegia 47, Autosomal Recessive
Spastic paraplegia, Spasticity, Neonatal hypotonia, Inability to walk, Hypertonia, Dystonia, Wadd... OMIM:614066
Atypical Rett Syndrome
Spasticity, Pill-rolling tremor, Impaired pain sensation, Neonatal hypotonia, Abnormal muscle ton... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Generalized hypotonia, Chorea, EEG abnormality, Dystonia OMIM:613970
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Spasticity, Hand tremor, Ataxia OMIM:615889
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia OMIM:610181
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Difficulty walking,... ORPHA:53351
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty walking, Chorea, Ataxia,... ORPHA:401768
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Gait ataxia, Dysmetria, Loss of ambulation, Spastic ataxia, Ataxia, Dystonia OMIM:611390
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Spasticity, Limb hypertonia, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia OMIM:615905
Leukodystrophy, Hypomyelinating, 21
Dystonia, Athetosis, Ataxia OMIM:619310
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Chorea, EEG abnormality, Hypertonia, Dystonia, Choreoathetosis, Axial hypotonia OMIM:618451
Dystonia 16
Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Limb dystonia, Gait distu... OMIM:612067
Corticobasal Syndrome
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Akinesia, Limb dystoni... ORPHA:454887
Developmental And Epileptic Encephalopathy 44
Dystonia, Athetosis, Axial hypotonia, Spasticity OMIM:617132
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Arm dystonia, Episodic ataxia, Episodic generalized hypoto... OMIM:601338
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Spastic paraplegia, Neonatal hypotonia, Unsteady gait, Dystonia, Spastic tetraplegia OMIM:245349
Familial Paroxysmal Ataxia
Dystonia, Torticollis, Ataxia ORPHA:97
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Falls, Tremor, Rigidity ORPHA:240085
Ataxia With Vitamin E Deficiency
Positive Romberg sign, Dysmetria, Impaired proprioception, Gait disturbance, Ataxia, Delayed soma... OMIM:277460
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Writer's cramp, ... OMIM:606159
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Hypotonia, Dysmetria, Head titubation, Ataxia, Truncal ataxia, Dystonia OMIM:250620
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ambulation, Ataxia, ... OMIM:208920
Autosomal Recessive Spastic Paraplegia Type 26
Dystonia, Gait disturbance, Lower limb spasticity, Impaired vibration sensation at ankles ORPHA:101006
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Hypotonia, Dystonia, Spasticity, Ataxia OMIM:620094
Huntington Disease-Like 2
Dystonia, Chorea, Action tremor, Rigidity OMIM:606438
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysmetria, Spastic ataxia, Ataxia, Dystonia, Dysdiadochokinesis OMIM:614487
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Progressive spastic paraplegia, Difficulty walking, Hypotonia, Facial hypotonia, Dyst... ORPHA:280763
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Generalized hypotonia, Dystonia, Spastic tetraplegia, Choreoathetosis OMIM:618238
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Inability to walk, Chorea, Rigidity, Ataxia, Dystonia OMIM:617672
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Chorea, Limb hypertonia, Hypertonia, Dystonia, Axial hypotonia ORPHA:238455
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia OMIM:261640
Spastic Paraplegia 90B, Autosomal Recessive
Dystonia, Axial hypotonia, Appendicular spasticity OMIM:620417
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Ataxia, Dystonia ORPHA:542310
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, EEG with burst suppression, Hypsarrhythmia, Hypertonia, Dystonia, Choreoath... OMIM:308350
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Inability to walk, Hypotonia, Gait ataxia, Tremor, Rigidity, Head titubation, Hyperto... OMIM:618877
Leber Optic Atrophy And Dystonia
Dystonia, Athetosis, Spasticity OMIM:500001
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibular dystonia OMIM:602124
Friedreich Ataxia
Spasticity, Decreased motor nerve conduction velocity, Falls, Inability to walk, Chorea, Limb ata... ORPHA:95
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Dystonia, Tremor, Generalized hypotonia ORPHA:306669
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Generalized dystonia, Laryngeal dystonia, Gait disturb... ORPHA:98805
Encephalopathy Due To Prosaposin Deficiency
Hypotonia, Dystonia ORPHA:139406
Huntington Disease-Like 3
Ataxia, Spasticity, Chorea, Unsteady gait, Dystonia OMIM:604802
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Athetosis OMIM:300857
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Dystonia, Tremor, Rigidity OMIM:615010
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Generalized hypotonia, Choreoathetosis, Ataxia OMIM:618416
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Inability to walk, Chorea, Gait ataxia, Dystonia OMIM:618917
Continuous Spikes And Waves During Sleep
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, EEG with... ORPHA:725
Huntington Disease-Like 1
Abnormal posturing, Generalized hypotonia, Chorea, Gait ataxia, Dysmetria, Gait disturbance, EEG ... ORPHA:157941
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Hypotonia, Limb dystonia, Trem... OMIM:617013
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Hypotonia, Dystonia, Choreoathetosis OMIM:618497
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Spasticity, Progressive spastic paraplegia, Difficulty walking, Lower limb spasticity, Un... ORPHA:464282
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Progressive Myoclonic Epilepsy With Dystonia
Dystonia, EEG with irregular generalized spike and wave complexes, Generalized neonatal hypotonia ORPHA:352596
Ataxia-Telangiectasia-Like Disorder
Generalized hypotonia, Chorea, Gait ataxia, Intention tremor, Dysmetria, Ataxia, Dystonia, Dysdia... ORPHA:251347
Mitochondrial Complex I Deficiency, Nuclear Type 26
EEG abnormality, Dystonia, Limb hypertonia, Choreoathetosis OMIM:618247
3-Methylglutaconic Aciduria, Type I
Spasticity, Ataxia, Dystonia, Athetosis, Spastic tetraplegia OMIM:250950
16P11.2P12.2 Microduplication Syndrome
Dystonia ORPHA:261204
Pelizaeus-Merzbacher Disease
Ataxia, Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Hypotonia,... OMIM:312080
Aicardi-Goutieres Syndrome 3
Hypotonia, Dystonia, Generalized hypotonia, Spasticity OMIM:610329
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Rigidity OMIM:605909
Huntington Disease-Like 3
Spasticity, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Progressive gait ataxia, ... ORPHA:157946
Spinocerebellar Ataxia Type 6
Blepharospasm, Gait ataxia, Unsteady gait, Dystonia, Intention tremor, Progressive cerebellar ataxia ORPHA:98758
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hypertonia, Ataxia, Dystonia OMIM:619738
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Difficulty walking, Infantile axial hypotonia, Dysmetria, Lower limb spasticity, Ataxia, Dystonia... ORPHA:438114
Hyperphenylalaninemia, Bh4-Deficient, B
Generalized hypotonia, Hypotonia, Tremor, Rigidity, Severe muscular hypotonia, Limb hypertonia, D... OMIM:233910
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Generalized hypotonia, Hypertonia, Ataxia, Multifocal epileptiform discharg... OMIM:272300
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia OMIM:619911
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Somatic sensory dysfunction, Ataxia ORPHA:459033
Posttransplant Acute Limbic Encephalitis
EEG with abnormally slow frequencies, Dystonia, EEG with focal epileptiform discharges, Ataxia ORPHA:163921
Developmental And Epileptic Encephalopathy 16
Hypotonia, Dystonia, Severe muscular hypotonia OMIM:615338
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, EEG with generalized slo... OMIM:300055
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel rigidity, Rig... OMIM:607483
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Spasticity, Generalized dystonia, Generalized hypotonia, In... ORPHA:70472
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Lower limb spasticity, Ataxia, Dystonia, Intention tremor, Axial hypotonia OMIM:616140
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Spasticity, Inability to walk, Dysmetria, Limb hypertonia, Ataxia, Multifocal epileptiform discha... OMIM:618087
Spinocerebellar Ataxia 21
Postural tremor, Limb ataxia, Gait ataxia, Akinesia, Cogwheel rigidity, Ataxia, Dystonia, Intenti... OMIM:607454
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Tremor, Dysmetria, Loss of ambulation, Ataxia, Dystonia OMIM:607694
Mohr-Tranebjaerg Syndrome
Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentials, Inability t... ORPHA:52368
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Chorea, Hypotonia, Rigidity, Loss of ambulation, Craniofacial dystonia... OMIM:617282
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Limb ataxia, Gait ataxia, Rigidity, Unsteady gait, Atax... ORPHA:98760
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Tremor, Distal sensory impairment, Rigidity, Gait distu... OMIM:606693
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Hypertonia, Unsteady gait, Dystonia, Axial hypotonia OMIM:617435
Pontocerebellar Hypoplasia, Type 14
Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia OMIM:619301
Autosomal Dominant Spastic Paraplegia Type 9B
Spastic gait, Postural tremor, Hypotonia, Loss of ambulation, Progressive gait ataxia, Focal dyst... ORPHA:447757
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Torticollis, Oromandibular... ORPHA:420485
Baralle-Macken Syndrome
Inability to walk, Dystonia, Neonatal hypotonia, Spasticity OMIM:619255
Caribbean Parkinsonism
Progressive gait ataxia, Dystonia, Action tremor, Rigidity ORPHA:97355
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Spasticity, Impaired vibration sensation in the lower limbs, Postural tremor, Positive Ro... ORPHA:447896
Pontocerebellar Hypoplasia, Type 15
Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia OMIM:619302
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Dystonia, Paresthesia, Episodic ataxia OMIM:108500
Dihydrolipoamide Dehydrogenase Deficiency
Hypotonia, Dystonia, Ataxia OMIM:246900
Spinocerebellar Ataxia Type 3
Dystonia, Progressive cerebellar ataxia ORPHA:98757
Leukodystrophy, Hypomyelinating, 15
Spasticity, Loss of ambulation, Ataxia, Dystonia, Athetosis, Intention tremor OMIM:617951
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Hypotonia, Head titubation, Hypsarrhythmia, Truncal ataxia, Dystonia ORPHA:88639
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia OMIM:619422
4H Leukodystrophy
Dysmetria, Tremor, Progressive gait ataxia, Ataxia, Dystonia, Dysdiadochokinesis ORPHA:289494
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Hypotonia, Dystonia, Choreoathetosis ORPHA:561854
Developmental And Epileptic Encephalopathy 38
Hypsarrhythmia, Limb hypertonia, Ataxia, Dystonia, Axial hypotonia OMIM:617020
Combined Oxidative Phosphorylation Deficiency 35
Dystonia, Generalized hypotonia, EEG abnormality, Spasticity OMIM:617873
Harel-Yoon Syndrome
Spasticity, Inability to walk, Hypotonia, Ataxia, Dystonia, Axial hypotonia OMIM:617183
Metachromatic Leukodystrophy
Generalized hypotonia, Decreased nerve conduction velocity, Chorea, Hypotonia, Gait disturbance, ... OMIM:250100
Dystonia 26, Myoclonic
Blepharospasm, Dystonia, Torticollis, Laryngeal dystonia OMIM:616398
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Impaired p... ORPHA:101
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Ataxia, Dystonia, Intention tremor OMIM:619725
Autosomal Recessive Spastic Paraplegia Type 78
Progressive spastic paraplegia, Difficulty walking, Progressive gait ataxia, Progressive spastic ... ORPHA:513436
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Spastic tetraparesis, Hypotonia, EEG abnormality, Dystonia, Axial hypotonia OMIM:617668
Pelizaeus-Merzbacher Disease
Spasticity, Hypotonia, Gait disturbance, Ataxia, Dystonia, Choreoathetosis, Abnormality of visual... ORPHA:702
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Spasticity, Spastic paraplegia, Generalized hypotonia, Dysmetria, T... ORPHA:459056
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Tremor, Freezing of gait, Rigidity, Focal... ORPHA:99750
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Dystonia, Inability to walk, Generalized hypotonia OMIM:611890
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait apraxia, A... OMIM:615157
Dystonia 28
Arm dystonia, Generalized dystonia, Leg dystonia, Oromandibular dystonia, Torticollis ORPHA:589618
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Neonatal hypotonia, Ataxia, Truncal ataxia, Dystonia OMIM:252011
Mitochondrial Membrane Protein-Associated Neurodegeneration
Shuffling gait, Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Gait disturbance, Dystonia ORPHA:289560
Hereditary Methemoglobinemia
Spasticity, Limb dystonia, Hypertonia, Athetosis, Spastic tetraplegia ORPHA:621
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, EEG with burst suppression, Hypotonia, Hypsarrhythmia, Dystonia ORPHA:439218
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Inability to walk, Hypotonia, Tremor, Dystonia, Choreoathetosis OMIM:617664
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Generalized hypotonia, Hypotonia, Tremor, Dystonia, Choreoathetosis OMIM:312170
Alzheimer Disease 3
Dystonia, Optic ataxia, Gait disturbance, Spastic tetraparesis OMIM:607822
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia OMIM:619025
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Chorea, Gait ataxia, Dysmetria, Tremor, Spastic ataxia, Torticollis, Un... ORPHA:397946
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Rigidity OMIM:600795
Combined Oxidative Phosphorylation Defect Type 13
Generalized hypotonia, Decreased nerve conduction velocity, Limb dystonia, Choreoathetosis, Axial... ORPHA:319514
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Dystonia, EEG abnormality, Progressive cerebellar ataxia OMIM:618868
Pyruvate Dehydrogenase Deficiency
Spasticity, Hypotonia, Tremor, Gait disturbance, Ataxia, Dystonia, Choreoathetosis ORPHA:765
Rasmussen Subacute Encephalitis
Hemidystonia, Continuous spike and waves during slow sleep, Inability to walk, Increased theta fr... ORPHA:1929
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Spasticity, Broad-based gait, Difficulty walking, Hypotonia, Gait ataxia, Facial hypotonia, Dystonia OMIM:617807
Metachromatic Leukodystrophy, Late Infantile Form
Spasticity, Tip-toe gait, Decerebrate rigidity, Generalized hypotonia, Decreased nerve conduction... ORPHA:309256
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Spastic tetraplegia, Generalized hypotonia OMIM:618237
Developmental And Epileptic Encephalopathy 84
Spasticity, Generalized hypotonia, EEG with burst suppression, Chorea, Opisthotonus, Hypsarrhythm... OMIM:618792
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypotonia, Dystonia, Neonatal hypotonia, Hypertonia OMIM:264470
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Tremor, Rigidity, Limb hypertonia, Dystonia, Axial hypotonia ORPHA:70594
Infantile Neuroaxonal Dystrophy
Ataxia, Spasticity, Spastic tetraparesis, Abnormality of peripheral nerve conduction, Axial hypot... ORPHA:35069
Gm2 Gangliosidosis, Ab Variant
Infantile axial hypotonia, Chorea, Progressive spastic quadriplegia, Exaggerated startle response... ORPHA:309246
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Head tremor, Postural tremor, Gait imbalance, Ataxia, Dystonia, Chor... ORPHA:64753
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Tremor, Dysmetria, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Athetosis, Spastic tetraplegia,... OMIM:617710
Gm2-Gangliosidosis, Ab Variant
Spastic tetraparesis, Generalized hypotonia, Chorea, Hypotonia, Hypertonia, Exaggerated startle r... OMIM:272750
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Dystonia, Gait disturbance OMIM:167320
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Tremor, Rigidity, Foca... ORPHA:240103
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Hypotonia, Chorea, Choreoathetosis ORPHA:289916
Leukodystrophy, Hypomyelinating, 20
Dystonia, Hypertonia, Spastic tetraplegia, Torticollis OMIM:619071
Leigh Syndrome, Nuclear
Spasticity, Generalized hypotonia, Hypotonia, Ataxia, Dystonia OMIM:256000
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Tremor, Rigidity ORPHA:329284
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spasticity, Hypotonia, Spastic hemiparesis, Dystonia, Spastic tetraplegia OMIM:619616
Neuroferritinopathy
Blepharospasm, Arm dystonia, Resting tremor, Difficulty walking, Chorea, Leg dystonia, Writer's c... ORPHA:157846
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor,... OMIM:606002
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dystonia, Axial dystonia, Generalized hypotonia OMIM:618230
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Dystonia, Dysdiadochokinesis OMIM:614381
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Spasticity, Inability to walk, Hypotonia, Lower limb spasticity, Ataxia, Dystonia OMIM:617854
Pyruvate Dehydrogenase E1-Alpha Deficiency
EEG with generalized sharp slow waves, Inability to walk, EEG with focal sharp waves, Hypotonia, ... ORPHA:79243
Mitochondrial Complex I Deficiency, Nuclear Type 5
Generalized hypotonia, Hypotonia, Ataxia, Dystonia, Axial hypotonia OMIM:618226
Liang-Wang Syndrome
Dystonia, Axial hypotonia, Ataxia OMIM:618729
Short Chain Acyl-Coa Dehydrogenase Deficiency
Infantile muscular hypotonia, Dystonia, Hypertonia ORPHA:26792
Leber Optic Atrophy
Dystonia, Postural tremor, Ataxia OMIM:535000
Rett Syndrome
Spasticity, Gait ataxia, EEG abnormality, Gait apraxia, Truncal ataxia, Dystonia OMIM:312750
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Generalized hypotonia, Hypotonia, Truncal ataxia, Dystonia, Intention tremor OMIM:614407
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Hypotonia, Dystonia, EEG abnormality, Generalized hypotonia OMIM:617268
Dystonia-Deafness Syndrome 1
Loss of ambulation, Oculogyric crisis, Generalized dystonia, Leg dystonia OMIM:607371
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Huntington Disease
Difficulty walking, Inability to walk, Chorea, Gait imbalance, Rigidity, Gait disturbance, Dystonia ORPHA:399
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Spasticity, Generalized hypotonia, Inability to walk, Hypotonia, Dystonia OMIM:614739
Gm1-Gangliosidosis, Type Iii
Dystonia, Ataxia OMIM:230650
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Progressive cerebellar at... ORPHA:102
Hengel-Maroofian-Schols Syndrome
Spasticity, Inability to walk, Hypotonia, Gait imbalance, Dystonia OMIM:619641
Allan-Herndon-Dudley Syndrome
Spasticity, Spastic tetraplegia, Neonatal hypotonia, Limb hypertonia, Ataxia, Dystonia, Choreoath... ORPHA:59
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypotonia, Dystonia, Generalized hypotonia, Spasticity OMIM:616277
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia OMIM:300894
Autosomal Dominant Dopa-Responsive Dystonia
Generalized dystonia, Impaired vibration sensation in the lower limbs, Postural tremor, Limb dyst... ORPHA:98808
Pyruvate Dehydrogenase E2 Deficiency
Arm dystonia, Broad-based gait, Difficulty walking, Paroxysmal dystonia, Frog-leg posture, Gait d... ORPHA:79244
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Spastic paraplegia, Gait disturbance, Ataxia, Spastic gait, Dystonia OMIM:620538
X-Linked Creatine Transporter Deficiency
Chorea, Hypotonia, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Developmental And Epileptic Encephalopathy 86
Dystonia, Generalized hypotonia OMIM:618910
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Dystonia, Spasticity, Ataxia OMIM:617341
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Gait ataxia, Positive Romberg sign, Rigidity, Steppage gait, Impaired distal proprio... OMIM:258450
Kaya-Barakat-Masson Syndrome
Spasticity, Generalized hypotonia, Limb dystonia, Spastic tetraplegia, Axial hypotonia OMIM:619125
Siddiqi Syndrome
Limb dystonia OMIM:618635
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Dystonia, Ataxia OMIM:616267
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity OMIM:606324
Gaucher Disease Type 2
Dystonia, Spasticity ORPHA:77260
Christianson Syndrome
Truncal ataxia, Dystonia, Gait ataxia ORPHA:85278
Developmental And Epileptic Encephalopathy 64
Inability to walk, Hypotonia, Chorea, Paroxysmal dystonia, Limb hypertonia, Dystonia OMIM:618004
Manganese Poisoning
Akinesia, Postural tremor, Cogwheel rigidity, Gait disturbance, Hypertonia, Dystonia ORPHA:306682
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Limb ataxia, Rigidity, Ataxia, Truncal ataxia, Dystonia... OMIM:109150
2,4-Dienoyl-Coa Reductase Deficiency
Spasticity, Hypotonia, Ataxia, Dystonia, Choreoathetosis OMIM:616034
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Hypotonia, Tremor, Limb hypertonia, EEG abnormality, Dystonia ORPHA:35708
Mucolipidosis Iv
Hypotonia, Dystonia, Spastic tetraplegia, Generalized hypotonia OMIM:252650
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Progressive cerebellar at... ORPHA:98933
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Generalized hypotonia, Difficulty walking, Inability to walk, Chorea, Hypotonia, Tremor, EEG abno... OMIM:615356
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Loss of ambulation, Gait disturbance, Oromandibular dys... OMIM:614298
Aceruloplasminemia
Blepharospasm, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidity, Craniofacial dystoni... ORPHA:48818
Jaberi-Elahi Syndrome
Broad-based gait, Inability to walk, Hypotonia, Gait ataxia, Tremor, Dysmetria, Appendicular spas... OMIM:617988
Metachromatic Leukodystrophy, Juvenile Form
Spasticity, Decerebrate rigidity, Generalized hypotonia, Decreased nerve conduction velocity, Pro... ORPHA:309263
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Steppage gait, Dystonia OMIM:613280
Classic Galactosemia
Postural tremor, Gait imbalance, Action tremor, Gait disturbance, Ataxia, Dystonia ORPHA:79239
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Lingual dystonia, Tortico... ORPHA:93958
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Limb dystonia, Gait ataxia, Tremor, Ataxia ORPHA:363400
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia OMIM:168605
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Spasticity, Chorea, Limb dystonia, Axial hypotonia OMIM:616339
Glutaric Acidemia I
Generalized hypotonia, Hypotonia, Rigidity, Opisthotonus, Dystonia, Choreoathetosis, Spastic dipl... OMIM:231670
Pontocerebellar Hypoplasia Type 2
Spasticity, Upper limb hypertonia, Infantile axial hypotonia, Paroxysmal dystonia, Choreoathetosi... ORPHA:2524
Myopathy With Extrapyramidal Signs
Difficulty walking, Chorea, Hypotonia, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:615673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hypotonia, Dystonia, Choreoathetosis ORPHA:79312
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Rigidity, Loss of ambulation, Gait disturbance, Dystonia OMIM:168601
Metachromatic Leukodystrophy, Adult Form
Spasticity, Decerebrate rigidity, Generalized hypotonia, Difficulty walking, Decreased nerve cond... ORPHA:309271
Pontocerebellar Hypoplasia, Type 9
Spasticity, Hypertonia, Facial hypotonia, Dystonia, Axial hypotonia OMIM:615809
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb hypertonia, Limb tremor, Torticollis, Exagg... OMIM:608643
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Shuffling gait, Tremor, Rigidity, Gait disturbance, Dystonia OMIM:615530
Lipoyltransferase 1 Deficiency
Hypotonia, Dystonia, Axial hypotonia, Spastic tetraparesis OMIM:616299
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Paroxysmal dystonia, Loss of ambulation, Scissor gait, Lower limb... ORPHA:466722
Coenzyme Q10 Deficiency, Primary, 5
Hypotonia, Dystonia, Hypertonia, Generalized hypotonia OMIM:614654
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Neonatal hypotonia, Progressive spastic quadriplegia, Dystonia, Choreoathetosis, Nonprogressive c... ORPHA:431361
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia OMIM:300475
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Inability to walk, Hypotonia, Loss of ability to walk in early childhood, Dystonia, A... OMIM:612073
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Arm dystonia, Spasticity, Neonatal hypotonia, Dysmetria, Gait distu... ORPHA:88644
Pontocerebellar Hypoplasia, Type 2B
Spasticity, Chorea, Hypotonia, Opisthotonus, Limb hypertonia, Dystonia, Axial hypotonia OMIM:612389
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Hypotonia, Opisthotonus, Severe muscular hypotonia, Multifocal epileptiform discharges, D... OMIM:616672
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Severe muscular hypotonia, Exaggerated startle response, Facial hypoton... ORPHA:438216
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Spastic diplegia, Tremor, Generalized hypotonia ORPHA:480907
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Hypotonia, Loss of ambulation, Dystonia, Choreoathetosis, Spastic diplegia ORPHA:391428
Birk-Landau-Perez Syndrome
Difficulty walking, Limb ataxia, Appendicular hypotonia, Limb hypertonia, Facial hypotonia, Dysto... OMIM:617595
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia OMIM:168600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Chorea, Gait ataxia, Hypsarrhythmia, Ataxia, Dystonia, Spastic tetraplegia,... OMIM:618321
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity OMIM:616840
Metachromatic Leukodystrophy
Tip-toe gait, Decerebrate rigidity, Decreased nerve conduction velocity, Tremor, Gait disturbance... ORPHA:512
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Generalized dystonia, Progressive spastic paraplegia, Progressive spastic paraparesis, Los... ORPHA:329308
Dystonia 21
Blepharospasm, Torticollis, Laryngeal dystonia OMIM:614588
Progressive Supranuclear Palsy
Blepharospasm, Falls, Tremor, Rigidity, Unsteady gait, Dystonia ORPHA:683
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Generalized hypotonia, Difficulty walking, Hypotonia, Ataxia, Dystonia, Choreoa... OMIM:610978
Rett Syndrome
Abnormal muscle tone, Difficulty walking, Inability to walk, Gait disturbance, EEG abnormality, I... ORPHA:778
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Impaired vibration sensation in the lower limbs, Paresthesia, Loss of ambulation, Steppage gait, ... ORPHA:324442
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Hypertonia, Dystonia, Dysdiadochoki... OMIM:610217
Autosomal Recessive Cutis Laxa Type 2A
Spasticity, Inability to walk, Hypotonia, Ataxia, Dystonia, Athetosis ORPHA:357058
Bilateral Generalized Polymicrogyria
Spasticity, Oculogyric crisis, Dystonia, Spastic tetraplegia, Axial hypotonia ORPHA:208447
Postencephalitic Parkinsonism
Oculogyric crisis, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidity, Rigidity, Tremor by ... ORPHA:97349
Niemann-Pick Disease, Type C1
Spasticity, Generalized hypotonia, Hypotonia, Gait ataxia, Ataxia, Dystonia OMIM:257220
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction... OMIM:619026
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Limb dystonia, Tremor, Rigidity, Severe muscular hypotonia, Ataxia, Dystonia, Athetosis ORPHA:25
Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Leg dystonia, Limb dystonia, Intention tremor, Rigidity, Loss of ambula... ORPHA:157850
Rett Syndrome, Congenital Variant
Spasticity, Neonatal hypotonia, Generalized hypotonia, Chorea, EEG abnormality, Dystonia, Athetosis OMIM:613454
Isolated Atp Synthase Deficiency
Spastic paraplegia, Dystonia, Hypotonia, Ataxia ORPHA:254913
Combined Malonic And Methylmalonic Acidemia
Dystonia, Axial hypotonia ORPHA:289504
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Hypotonia, Spastic ataxia, Generalized hypotonia OMIM:277410
Dystonia-Aphonia Syndrome
Oromandibular dystonia, Unsteady gait, Gait disturbance, Generalized dystonia ORPHA:412217
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia OMIM:612716
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Decreased nerve conduction velocity, Infantile axial hypotonia, Leg dystonia, Loss ... ORPHA:565624
Aicardi-Goutieres Syndrome 4
Dystonia, Spasticity OMIM:610333
Trichothiodystrophy 8, Nonphotosensitive
Craniofacial dystonia, Head titubation, Spastic diplegia, Spasticity OMIM:619691
Developmental And Epileptic Encephalopathy 51
Inability to walk, Hypotonia, Dystonia OMIM:617339
Choreoacanthocytosis
Dystonia, Progressive choreoathetosis OMIM:200150
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Gait disturbance OMIM:617903
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Generalized dystonia OMIM:618235
Cimdag Syndrome
Spasticity, Hypotonia, Chorea, Ataxia, Dystonia OMIM:619273
Machado-Joseph Disease Type 1
Progressive gait ataxia, Dystonia, Spasticity, Progressive cerebellar ataxia ORPHA:276238
Machado-Joseph Disease Type 2
Progressive gait ataxia, Dystonia, Spasticity, Progressive cerebellar ataxia ORPHA:276241
Pontocerebellar Hypoplasia, Type 2A
Dystonia, Opisthotonus, Chorea OMIM:277470
Intellectual Developmental Disorder, Autosomal Dominant 43
Hypotonia, Dystonia, Ataxia OMIM:616977
Cerebral Creatine Deficiency Syndrome 1
Spasticity, Broad-based gait, Neonatal hypotonia, Hypotonia, Gait disturbance, Hypertonia, Dyston... OMIM:300352
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Spasticity, Neonatal hypotonia, Inability to walk, Limb dystonia, EEG with frontal sharp slow wav... ORPHA:457351
Tay-Sachs Disease
Decerebrate rigidity, Laryngeal dystonia, Inability to walk, Generalized hypotonia, Tremor, Dysme... ORPHA:845
Parkinsonian-Pyramidal Syndrome
Shuffling gait, Spasticity, Rigidity, Dystonia, Intention tremor ORPHA:171695
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Neonatal hypotonia, Hypotonia, Tremor, Opisthotonus, Ataxia, Dystonia, Choreoathetosis OMIM:616271
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Dystonia, Spasticity OMIM:607236
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia OMIM:616113
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Dystonia, Spastic tetraparesis ORPHA:404451
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Interictal epileptiform activity, Increased theta frequency activity in EEG, EEG with focal spike... ORPHA:98784
Lesch-Nyhan Syndrome
Spasticity, Hypotonia, Opisthotonus, Dystonia, Choreoathetosis OMIM:300322
Young-Onset Parkinson Disease
Spasticity, Gait imbalance, Tremor, Rigidity, Dystonia ORPHA:2828
Combined Oxidative Phosphorylation Deficiency 10
Hypotonia, Dystonia, Spasticity OMIM:614702
Congenital Disorder Of Glycosylation, Type Ii
Dystonia, Hypsarrhythmia, Generalized hypotonia OMIM:607906
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia ORPHA:453533
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Hypotonia, Dystonia, Spasticity OMIM:619286
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Hypsarrhythmia, Axial hypotonia, Appendicular spasticity OMIM:617669
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hypotonia, Abnormal posturing OMIM:614857
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Infantile axial hypotonia, Limb dystonia, Tremor, Dysmetria, Limb hypertonia,... ORPHA:572798
Filippi Syndrome
Dystonia OMIM:272440
Gm1 Gangliosidosis
Spasticity, Decerebrate rigidity, Generalized dystonia, Generalized hypotonia, Hypotonia, Tremor,... ORPHA:354
Leukodystrophy, Progressive, Early Childhood-Onset
Dystonia, Axial hypotonia, Appendicular spasticity OMIM:617762
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Generalized hypotonia, Limb hypertonia, Abnormality of visual evoked potentials, Dystonia, Axial ... OMIM:616875
Nabais Sa-De Vries Syndrome, Type 2
Dystonia, Chorea, Neonatal hypotonia OMIM:618829
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Generalized hypotonia, Gait ataxia, Gait disturbance, Ataxia, Dystonia, Spastic tetraplegia, Spas... OMIM:616878
Machado-Joseph Disease Type 3
Progressive gait ataxia, Dystonia, Spasticity, Progressive cerebellar ataxia ORPHA:276244
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hypotonia, Dystonia, Ataxia OMIM:619167
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Gait disturbance, Hypertonia, T... ORPHA:309854
Coach Syndrome 1
Spasticity, Generalized hypotonia, Hypotonia, Ataxia, Dystonia OMIM:216360
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Limb dystonia, Axial hypotonia OMIM:620269
Dilated Cardiomyopathy With Ataxia
Neonatal hypotonia, Action tremor, Lower limb spasticity, Ataxia, Dystonia ORPHA:66634
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Decreased motor nerve conduction velocity, Spasticity OMIM:618186
Alg3-Cdg
Hypotonia, Dystonia, Hypertonia, Spastic tetraparesis ORPHA:79321
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Inability to walk, Hypotonia, Chorea, Ataxia, Dystonia OMIM:617804
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with focal sharp waves, Chorea, EEG with spike-wave complexes, EEG abnormality, Infantile mus... ORPHA:522077
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Dystonia, Spastic ataxia, Generalized dystonia, Spastic tetraparesis OMIM:620358
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dysmetria, Head titubation, Ataxia, Dystonia, Intention tremor OMIM:619708
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Hypotonia, Dystonia, Falls OMIM:618222
Early Infantile Epileptic Encephalopathy
Spasticity, Episodic ataxia, EEG with burst suppression, Uni- and bilateral multifocal epileptifo... ORPHA:1934
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Inability to walk, Infantile axial hypotonia, Spastic ataxia, Torticollis, Dystonia, ... ORPHA:300570
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Hypsarrhythmia, Axial hypotonia, Spasticity ORPHA:500144
Japanese Encephalitis
Pill-rolling tremor, Decreased motor nerve conduction velocity, EEG with burst suppression, Cogwh... ORPHA:79139
Mcleod Syndrome
Dystonia, Chorea, Impaired vibration sensation at ankles OMIM:300842
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Generalized dystonia, Difficulty walking, Dysmetria, Lower limb spasticity, S... ORPHA:171629
Intellectual Developmental Disorder, Autosomal Dominant 42
EEG with generalized epileptiform discharges, EEG with occipital slowing, Inability to walk, EEG ... OMIM:616973
Pontocerebellar Hypoplasia, Type 17
Axial hypotonia, Limb hypertonia, Spastic tetraplegia, Paroxysmal dystonia OMIM:619909
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Generalized dystonia, Opisthotonus, Hypsarrhythmia, Limb hypertonia, Ataxia, Intentio... OMIM:618076
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia ORPHA:411602
Triosephosphate Isomerase Deficiency
Spasticity, Generalized hypotonia, Hypotonia, Tremor, Unsteady gait, Dystonia OMIM:615512
Wieacker-Wolff Syndrome
Hypotonia, Dystonia, Generalized hypotonia, Spasticity OMIM:314580
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Rigidity OMIM:601104
Niemann-Pick Disease, Type C2
Hypotonia, Dystonia, Spasticity, Ataxia OMIM:607625
Aicardi-Goutieres Syndrome 1
Inability to walk, Dystonia, Axial hypotonia, Spasticity OMIM:225750
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Hypotonia, Limb dystonia, Opisthotonus, Hypertonia, Spastic tetraplegia OMIM:619847
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Akinesia, Rigidity OMIM:609454
Ataxia-Telangiectasia
Inability to walk, Intention tremor, Tremor, Ataxia, Dystonia, Dysdiadochokinesis, Choreoathetosi... OMIM:208900
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Gait disturbance, Ataxia, Dystonia, Choreo... OMIM:234200
Plaa-Associated Neurodevelopmental Disorder
Hypotonia, Rigidity, Progressive spastic quadriplegia, Hypsarrhythmia, Limb hypertonia, Exaggerat... ORPHA:521426
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypotonia, Dystonia OMIM:614105
Hermansky-Pudlak Syndrome 10
Dystonia, EEG abnormality, Axial hypotonia, Generalized hypotonia OMIM:617050
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypotonia, Dystonia, Choreoathetosis, Ataxia OMIM:615471
Brain-Lung-Thyroid Syndrome
Falls, Chorea, Infantile muscular hypotonia, Ataxia, Dystonia, Intention tremor, Choreoathetosis ORPHA:209905
Propionic Acidemia
Dystonia, Limb hypertonia, Axial hypotonia OMIM:606054
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Hypsarrhythmia, Spasticity OMIM:618397
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Spasticity, Infantile muscular hypotonia, Ataxia, Dystonia, Progressive spasticity ORPHA:496641
Pseudo-Torch Syndrome 1
Hypotonia, Dystonia, Axial hypotonia, Spasticity OMIM:251290
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Generalized hypotonia, Gait imbalance, Tremor, Gait disturbance, Ataxia, Dystonia, Sp... OMIM:300966
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Hypotonia, Hypsarrhythmia, Hypertonia, Exaggerated startle response, ... OMIM:620423
Gabriele-De Vries Syndrome
Tip-toe gait, Hypotonia, Tremor, Facial hypotonia, Dystonia, Waddling gait OMIM:617557
Leigh Syndrome
Spasticity, Chorea, Hypsarrhythmia, Infantile muscular hypotonia, Ataxia, Dystonia, Athetosis, Ch... ORPHA:506
Blepharonasofacial Malformation Syndrome
Torsion dystonia ORPHA:1252
Developmental And Epileptic Encephalopathy 89
Spasticity, EEG with burst suppression, Hypsarrhythmia, Hypertonia, Dystonia, Axial hypotonia OMIM:619124
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Choreoathetosis ORPHA:261197
Combined Oxidative Phosphorylation Deficiency 3
Neonatal hypotonia, Generalized hypotonia, Hypotonia, Tremor, Ataxia, Dystonia OMIM:610505
Cerebrotendinous Xanthomatosis
Spasticity, Abnormal auditory evoked potentials, Spastic paraparesis, Resting tremor, Somatic sen... ORPHA:909
Marbach-Schaaf Neurodevelopmental Syndrome
Tremor, Hemidystonia, Neonatal hypotonia, Torticollis OMIM:619680
Alternating Hemiplegia Of Childhood
Chorea, Hypotonia, Tremor, Rigidity, Ataxia, Facial hypotonia, Dystonia, Choreoathetosis ORPHA:2131
Combined Oxidative Phosphorylation Deficiency 57
Hypotonia, Dystonia OMIM:620167
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Chorea, Gait ataxia, Hypertonia, Ataxia, Infantile muscular hypotonia, Dystonia ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Generalized hypotonia, Spasticity OMIM:616811
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Hypertonia, Ataxia ORPHA:480864
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypotonia, Dystonia, Dysdiadochokinesis, Broad-based gait OMIM:618891
Slc39A8-Cdg
Inability to walk, Severe muscular hypotonia, Dystonia, Hypsarrhythmia ORPHA:468699
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Broad-based gait, Painless fractures due to injury, Hypotonia, Distal sensory... OMIM:256810
Aicardi-Goutieres Syndrome 9
Spasticity, Spastic tetraparesis, Spastic diplegia, Hypertonia, Dystonia, Spastic tetraplegia, Ax... OMIM:619487
Monosomy 18P
Hypotonia, Generalized dystonia ORPHA:1598
Filippi Syndrome
Hypotonia, Spasticity, Limb dystonia ORPHA:3255
Lipoid Proteinosis
Dystonia ORPHA:530
Beta-Ureidopropionase Deficiency
Hypotonia, Dystonia, Hypsarrhythmia, Neonatal hypotonia OMIM:613161
Unilateral Polymicrogyria
Abnormal posturing, Giant somatosensory evoked potentials, Appendicular hypotonia, Spastic tetrap... ORPHA:268943
Galloway-Mowat Syndrome 1
Spasticity, Hypotonia, Ataxia, Dystonia, Spastic tetraplegia, Axial hypotonia OMIM:251300
Mercury Poisoning
Dystonia, Tremor ORPHA:330021
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Spasticity, Tremor, Ataxia OMIM:612199
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Chorea, Action tremor, Lingual dystonia, EEG abnormality, Facial hypotonia, Dy... ORPHA:404454
Combined Oxidative Phosphorylation Deficiency 12
Neonatal hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Axial hypotonia OMIM:614924
Cadds
Dystonia ORPHA:369942
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia ORPHA:79107
Niemann-Pick Disease Type C
Chorea, Hypotonia, Limb dystonia, Axial dystonia, Tremor, Progressive gait ataxia, Gait disturban... ORPHA:646
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypotonia, Limb dystonia OMIM:604377
Adult-Onset Dystonia-Parkinsonism
Spasticity, Tremor, Rigidity, Focal dystonia, Dystonia ORPHA:199351
Pyruvate Carboxylase Deficiency
Tip-toe gait, Generalized hypotonia, Hypotonia, Tremor, Ataxia, Dystonia ORPHA:3008
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Inability to walk, Hypotonia, Dystonia, Ataxia OMIM:620083
Choreoacanthocytosis
Blepharospasm, Impaired vibratory sensation, Falls, Resting tremor, Decreased amplitude of sensor... ORPHA:2388
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Difficulty walking, Rigidity, Gait disturbance, Lingual dystoni... ORPHA:306674
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypotonia, Hypsarrhythmia, Hypertonia, Dystonia, Spastic tetraplegia OMIM:620024
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Spastic tetraplegia, Falls, Tip-toe gait, Spasticity, Hypotonia, Spastic dipleg... OMIM:619475
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Dystonia, Neonatal hypotonia ORPHA:457193
Nmda Receptor Encephalitis
Oculogyric crisis, Chorea, EEG with temporal sharp slow waves, Rigidity, Opisthotonus, Dystonia, ... ORPHA:217253
Mogs-Cdg
Infantile muscular hypotonia, Dystonia, Absent brainstem auditory responses, Abnormality of visua... ORPHA:79330
Arthrogryposis Multiplex Congenita 5
Hand tremor, Generalized hypotonia, Akinesia, Hypertonia, Dystonia OMIM:618947
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Axial hypotonia, Oculogyric crisis, Hypertonia, Tremor ORPHA:1578
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Unsteady gait, Infantile muscular hypotonia, Hypertonia, Dystonia, Choreoathetosis ORPHA:17
Chromosome 18P Deletion Syndrome
Hypotonia, Dystonia OMIM:146390
Fucosidosis
Spastic gait, Hypotonia, Dystonia, Spastic tetraplegia OMIM:230000
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Spastic tetraparesis, Inability to walk, Hypotonia, Hypsarrhythmia, Limb hypertonia, ... OMIM:620371
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia ORPHA:79233
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Spasticity, Tip-toe gait, Hypotonia, Lower limb spasticity, Limb hypertonia, Infantile muscular h... OMIM:619950
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Difficulty walking, Extrapyramidal muscular rigidity, Tremor, Hy... ORPHA:51
Vici Syndrome
Hypotonia, Abnormal posturing OMIM:242840
Wilson Disease
Hand tremor, Decreased nerve conduction velocity, Limb dystonia, Tremor, Rigidity, Hypoesthesia, ... OMIM:277900
Aicardi-Goutieres Syndrome 7
Spastic tetraparesis, Generalized hypotonia, Hypotonia, Lower limb spasticity, Limb hypertonia, H... OMIM:615846
Woodhouse-Sakati Syndrome
Dystonia, Choreoathetosis OMIM:241080
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Chorea, Oculogyric crisis, Tremor ORPHA:94093
Holoprosencephaly
Dystonia, Hypotonia, Chorea, Spasticity ORPHA:2162
Orofaciodigital Syndrome Type 1
Dystonia, Tremor, Ataxia ORPHA:2750
3-Methylglutaconic Aciduria, Type Viii
Generalized hypotonia, Hypotonia, Tremor, Hypertonia, Dystonia OMIM:617248
Idiopathic Camptocormia
Dystonia ORPHA:1320
Legius Syndrome
Hypotonia, Dystonia ORPHA:137605
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Spasticity, Hypotonia, Tremor, Dysmetria, Ataxia, Truncal ataxia, Dystonia OMIM:220111
Arboleda-Tham Syndrome
Neonatal hypotonia, Generalized hypotonia, Hypotonia, Gait imbalance, Dystonia, Axial hypotonia, ... OMIM:616268
Gabriele-De Vries Syndrome
Hypotonia, Tremor, Facial hypotonia, Dystonia, Waddling gait ORPHA:506358
Woodhouse-Sakati Syndrome
Dystonia, Choreoathetosis ORPHA:3464
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Hypotonia, Dystonia, Broad-based gait OMIM:620330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Infantile muscular hypotonia, Exaggerated startle response, ... ORPHA:438213
Semilobar Holoprosencephaly
Spasticity, Inability to walk, Infantile axial hypotonia, Limb dystonia, Infantile muscular hypot... ORPHA:220386
Alobar Holoprosencephaly
Spasticity, Inability to walk, Infantile axial hypotonia, Limb dystonia, Infantile muscular hypot... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Spasticity, Inability to walk, Infantile axial hypotonia, Limb dystonia, Infantile muscular hypot... ORPHA:93926
Lobar Holoprosencephaly
Spasticity, Inability to walk, Infantile axial hypotonia, Limb dystonia, Infantile muscular hypot... ORPHA:93924
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Axial hypotonia OMIM:618278
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dystonia, Limb dystonia, Spasticity OMIM:175780
Lissencephaly 5
Spastic paraplegia, Hypotonia OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele ORPHA:352682

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lamb1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lamb1.

No publications found that use IMPC mice or data for Lamb1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lamb1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lamb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Lamb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lamb1em1(IMPC)Bay Exon Deletion Mice

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