Gene Summary

Name:
acetylcholinesterase
Synonyms:
N/A

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
small heart Acheem1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Acheem1(IMPC)Mbp HOM E18.5 0.00
increased neutrophil cell number Acheem1(IMPC)Mbp HET Early adult 3.36×10-07
preweaning lethality, incomplete penetrance Acheem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Acheem1(IMPC)Mbp HOM E18.5 0.00
no spontaneous movement Acheem1(IMPC)Mbp HET E18.5 0.00
abnormal heart morphology Acheem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

MicroCT E18.5

Embryo reconstruction

9 Images

Gross Morphology Embryo E18.5

Images

1 Images

Human diseases caused by Ache 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Peroneus Tertius Muscle, Absence Of
Foot dorsiflexor weakness OMIM:261400
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport
Muscle weakness OMIM:251945
Episodic Ataxia With Slurred Speech
Tremor, Muscle weakness, Slurred speech, Gait ataxia ORPHA:401953
Episodic Ataxia, Type 7
Episodic ataxia, Muscle weakness OMIM:611907
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Episodic Ataxia, Type 8
Episodic ataxia, Intention tremor, Ataxia, Muscle weakness, Slurred speech OMIM:616055
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Babinski sign, Muscle weakness, Spastic paraplegia OMIM:612539
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Proximal muscle weakness, Distal muscle weakness OMIM:182980
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Dystonia 31
Abnormal posturing, Difficulty walking, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm ... OMIM:619565
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia, Muscle weakness OMIM:611105
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g... OMIM:619267
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Upper limb muscle weakness, Gait ataxia, Focal dystonia, Dyst... ORPHA:309169
Spinocerebellar Ataxia Type 38
Distal muscle weakness, Tremor, Gait ataxia ORPHA:423296
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Distal muscle weakness OMIM:158580
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal muscle weakness OMIM:614369
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Distal muscle weakness, Ataxia, Myoclonus OMIM:615957
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat... OMIM:187950
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Temperature instability, Abnormal ... OMIM:618049
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... OMIM:614561
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Muscle weakness ORPHA:85162
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait, Macrotia, Inappropriate laughter, Narrow palpebral fiss... OMIM:616269
Monomelic Amyotrophy
Fasciculations, Tremor, Muscle weakness ORPHA:65684
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Generalized muscle weakness, Chorea, ... ORPHA:98810
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Glanzmann Thrombasthenia 1
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag... OMIM:273800
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Caribbean Parkinsonism
Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, Act... ORPHA:97355
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dist... OMIM:607317
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Dystonia, Torticollis, Involuntary movements OMIM:620245
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Torticollis, Neck muscle weakness, Gai... ORPHA:276193
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Limb muscle weakness, Progressive gait ataxia, Dysmetria OMIM:607458
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Muscle weakness OMIM:615048
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Babinski sign, Hypertonia, Hypothermia, Limb hypertonia, Inguinal hernia, Abnormal... OMIM:614498
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia OMIM:615945
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare... OMIM:616053
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Decreased body weight, Unsteady gait, Motor stereotypy, Self-mu... OMIM:614063
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Proximal muscle weakness, External ophthalmoplegia, Fatigable weakness OMIM:254190
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Falls, Chorea, Dystonia, Ataxia, Inappropriate laughter, Motor stereotypy,... OMIM:619150
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Developmental And Epileptic Encephalopathy 78
Chorea, Spasticity, Hypothermia, Cerebral palsy OMIM:618557
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Muscle weakness, Limb muscle weakness OMIM:619141
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Tremor, Distal muscle weakness, Ataxia, Proximal muscle weakness OMIM:618637
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls OMIM:616921
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:102
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness OMIM:254100
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Tremor, Dystonia, Myoclonus OMIM:619651
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Neck muscle weakness, Limb hypertonia, Generalized muscle weakness, Restin... OMIM:606703
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Tremor, Chorea ORPHA:494526
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:168593
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Failure to thrive, Posteriorly rotated ears, ... OMIM:609425
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Barth Syndrome
Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis ORPHA:111
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor, Muscle weakness OMIM:253550
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston... ORPHA:101109
Migraine, Familial Hemiplegic, 1
Tremor, Fever, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Motor ster... OMIM:608636
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, External ophthalmoplegia, Truncal ataxia, Spasticity, Tremor, Ankle c... OMIM:615768
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:98933
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Spasticity, Frequent falls, Gait disturbance... ORPHA:216866
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Compulsive be... ORPHA:216873
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Spastic diplegia... OMIM:617270
Macrophagic Myofasciitis
Generalized muscle weakness, Myalgia, Arthralgia, Fatigue ORPHA:592
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Optic atrophy, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dyst... ORPHA:329284
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent ... ORPHA:157941
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Myoclonus OMIM:614860
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Spinocerebellar Ataxia 35
Babinski sign, Neck muscle weakness, Torticollis, Incoordination, Intention tremor, Ataxia, Dysme... OMIM:613908
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia, Lower lim... OMIM:600363
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:615888
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Hand tremor OMIM:617862
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticolli... OMIM:128100
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Hypothermia ORPHA:29822
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Temperature instability, Abnormal autonomic nervous system physiology, Gait ataxia,... ORPHA:99027
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Involuntary movements, Dystonia, Motor stereotypy, Self-injurious ... OMIM:617820
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Tremor, Myoclonus, C... ORPHA:363710
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Low-set ears, Failure to thrive, Ataxia, Epicanthus OMIM:618951
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnorma... ORPHA:227510
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Obesity, Ataxia, Aggressive behavior OMIM:620270
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involuntary movements, Dyston... OMIM:618218
Developmental And Epileptic Encephalopathy 97
Poor head control, Tremor OMIM:619561
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Abnormal platelet count, Prolonged bleeding time,... OMIM:614201
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Postlingual sensorineural hearing impairment, Spasticity, Tremor, Dystonia, D... OMIM:304700
Spinal Muscular Atrophy, Type Iii
Limb fasciculations, Pelvic girdle muscle weakness, Tongue fasciculations, Proximal muscle weakne... OMIM:253400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a... OMIM:614009
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Distal muscle weakness, Gait ataxia, Limb muscle weakness, Ataxia, Foot dorsiflexor weakn... OMIM:618387
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Clonus, Spastic parapleg... ORPHA:139578
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Hypertonia, Dystonia, Hypothermia OMIM:614654
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Postural tremor ORPHA:210571
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor, Generalized muscle weakness OMIM:609153
Pulmonary Blastoma
Fever, Weight loss ORPHA:64741
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Speech apraxia, Inflexible adherence to routines, Downslanted palpebral fis... OMIM:613670
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Motor stereotypy, Aggressive behavior OMIM:619470
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Spasticity, Decreased body ... OMIM:617695
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Inability to walk, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxi... ORPHA:599373
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, Macrothr... OMIM:187800
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria, Aggressive behavior OMIM:276880
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Ophthalmoparesis OMIM:260540
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Aggressive behavior, Motor stereotypy, Involuntary movements OMIM:617171
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Primary Erythromelalgia
Hypothermia ORPHA:90026
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Tremor, Low-set ears, Gait ataxia, Ataxia, Large fleshy e... OMIM:619092
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Abnormal autonomic nervous system physiology DECIPHER:59
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Spasticity, Tremor, Low-set ears, Motor stereotypy, Self-injuri... OMIM:618718
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Fasciculations, Tongu... ORPHA:276435
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Spinocerebellar Ataxia, Autosomal Recessive 8
Limb ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Abnormal au... OMIM:610743
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Babinski sign, Bradykinesia, Progressive extrapyramidal muscular rigidity, Ch... ORPHA:225147
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t... ORPHA:98762
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Dysphagia,... OMIM:302500
Foxg1 Syndrome
Hyperkinetic movements, Difficulty walking, Inability to walk, Bruxism, Spasticity, Decreased bod... ORPHA:561854
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Agitation, Spasticity, Tremor, Dystonia, Unsteady gait, Dysphagia, Moto... OMIM:617435
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function, Ataxia ORPHA:2585
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Gowers sign, Tremor, Facial palsy, Frequent falls, Respiratory insufficien... OMIM:159950
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Recurrent fever, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism, Dysphagia OMIM:128235
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Fasciculations, Tremor, Upper limb muscle weakness, Cold pa... ORPHA:99965
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Gait disturbance, Rigidity, Dystonia, Disinhibition, Restl... OMIM:600795
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Cachexia, Tremor, Facial palsy, Abnormal autonomic nervous sys... ORPHA:97229
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Fever, Ataxia, Weight loss, Myoclonus OMIM:600072
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Bulbar palsy, Tremor, Limb muscle weakness OMIM:313200
Tetanus
Hypertonia, Tremor, Abnormal autonomic nervous system physiology, Fever, Rigidity, Opisthotonus, ... ORPHA:3299
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysphagia, ... OMIM:618093
Riboflavin Deficiency
Hypothermia OMIM:615026
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Apraxia, Tongue thrustin... ORPHA:3095
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Spasticity, Tremor, Distal muscle weakness, Limb muscle weakness, Foot... OMIM:609260
Asherman Syndrome
Secondary amenorrhea, Infertility, Episodic abdominal pain, Oligomenorrhea, Dysmenorrhea, Abnorma... ORPHA:137686
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Spastic diplegia OMIM:617830
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Tremor, Spasticity, Ataxia, Aggressive behavior OMIM:300983
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Low-set ears, Spastic paraplegia, Fa... ORPHA:477673
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Parkinsonism, Weight loss, Abnormal autonomic nervous system physiology OMIM:605543
Amyotrophic Lateral Sclerosis 18
Fasciculations, Spasticity, Muscle weakness OMIM:614808
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Tremor, Low-set ears, Macrotia, Failure to thrive, Antalgic gait, Tetraparesis, Aggre... OMIM:620546
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Amyotrophy, Monomelic
Fasciculations, Cold paresis, Upper limb muscle weakness OMIM:602440
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Stereotypical hand wringing, Gait distu... OMIM:614104
Pontiac Fever
Fever ORPHA:99748
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Spasticity, Compulsive behaviors, Stereotypical hand wringing, Gait at... OMIM:618917
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign, Proximal mus... ORPHA:139485
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Sensorineural hearing impairment, Tremor... ORPHA:2590
Autism Spectrum Disorder Due To Auts2 Deficiency
Bilateral ptosis, Short palpebral fissure, Hypertonia, Highly arched eyebrow, Hyperactivity, Spas... ORPHA:352490
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Mitchell Syndrome
Clumsiness, Abnormal autonomic nervous system physiology OMIM:618960
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Impulsivity, Oppositional defiant disorder, Ataxia, Myoclonus, Imp... OMIM:619028
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involuntary movements, Prog... ORPHA:401768
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Idiopathic Congenital Hypothyroidism
Hypothermia, Umbilical hernia ORPHA:95717
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Attention deficit hype... OMIM:619725
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Temperature instability... ORPHA:70594
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Distal muscle weakness ORPHA:101078
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness OMIM:159050
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... OMIM:213600
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Intermittent hypothermia, Torticollis, Oculogyric crisis, Limb hypertonia, Athetos... OMIM:608643
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Menkes Disease
Babinski sign, Hypertonia, Hypothermia, Short stature, Intrauterine growth retardation OMIM:309400
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed puberty, Babinski sign, Optic atrophy, Spastic dysarthria, Spasticity, Upper motor neuron... ORPHA:447896
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Limb hypertonia, Inability to walk, Highly arched eyebrow, Chorea, Long eyel... OMIM:618004
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Progressive cerebellar ataxia, Abnormality of extrapyramid... ORPHA:98757
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Epilepsy, Familial Adult Myoclonic, 1
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex OMIM:601068
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Charcot-Marie-Tooth Disease And Deafness
Ankle weakness, Tremor, Limb muscle weakness, Distal muscle weakness, Foot dorsiflexor weakness OMIM:118300
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ... ORPHA:504476
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Sensorineural hearing impairment, Hyperactivity, Tremor, Low-set ears, Dec... OMIM:618342
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dystonia, Parkinson... OMIM:300894
Myositis
Proximal muscle weakness OMIM:160750
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet... OMIM:155100
Amish Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Tremor, Progressive muscle weakness ORPHA:98902
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, Resting tremor... ORPHA:3077
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Tongue fasciculations, Hypothermia, Exaggerated startle response OMIM:608800
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia, Muscle weakness OMIM:300619
Obesity Due To Sim1 Deficiency
Obesity, Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tac... ORPHA:369873
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Failure to thrive in infancy OMIM:619175
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment, Ataxia ORPHA:101075
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Inappropriate behavior, Oculomotor apraxia, Falls, Tremor by anatomical site, Extra... ORPHA:99750
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Hearing impairment, Ptosis, Action tremor, Ataxia, Myoclonus, Postu... OMIM:620158
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Progressive distal muscle weakness, Foot dorsiflexor weakness, Spastic paraparesis, Proxi... ORPHA:101077
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Intrauterine growth retardation, Failure to thrive, Hypothermia, Growth delay OMIM:245400
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Difficulty walking, Spastic dysarthria, Spasticity, Waddling gait, Dystonia, Motor... ORPHA:280763
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Recu... OMIM:261640
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Heari... OMIM:617145
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex, Myoclonus OMIM:613608
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Upper limb postural tremor, Distal muscle weakness, Gait ataxia OMIM:180800
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Infantile Neuroaxonal Dystrophy
Optic atrophy, Spasticity, Progressive spasticity, Spastic tetraparesis, Temperature instability,... ORPHA:35069
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Chronic otitis media, Oral-pharyngeal dysphagia, Tremor, Low-set ears, Long eyelashes, Hearing im... ORPHA:480907
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ophthalmoplegia, At... ORPHA:1170
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Bruxism, Tremor, Shuffling ga... OMIM:300055
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Lateral ventricle ... ORPHA:306669
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... OMIM:619279
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Abnormality of temperature regulation, Hypothermia, Elbow flexion contracture, Sho... OMIM:618493
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Dysphagia, Loss of ambulation, Dysmetria OMIM:617916
Christianson Syndrome
Truncal ataxia, Cachexia, Gait ataxia, Macrotia, Dystonia, Thick eyebrow, Dysphagia, Inappropriat... ORPHA:85278
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Decreased nerve conduction velocity, Tremor, Short stature, Ataxia ORPHA:1368
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Spasticity, Temperature instability, Abnormal autonomic nervous system physiology,... OMIM:616683
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Abnormal pyramidal sign, Parkins... OMIM:612067
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Resting tremor, Abnormal cranial nerve morpholog... ORPHA:247234
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Xq28 (MECP2) duplication
Inability to walk, Progressive spasticity, Gait ataxia, Macrotia, Failure to thrive, Dysphagia, M... DECIPHER:45
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hypertonia, Hypothermia OMIM:237310
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Spasticity, Tremor, Impulsivity, Involuntary movements, Ptos... ORPHA:442835
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia, Distal muscle weakness OMIM:616719
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral ptosis, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Dystonia ORPHA:330050
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Synophrys, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Spasticity, Abnormal autonomic nervous system physiology, Limb dystonia, Rigidity... OMIM:616840
Alexander Disease Type Ii
Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Rigidity, Ataxia, Spasti... ORPHA:363722
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Telecanthus, Prominent ear helix, Synophrys, Long eyelashes, Thick eyebrow, Mo... ORPHA:411986
Radio-Tartaglia Syndrome
Highly arched eyebrow, Impulsivity, Attention deficit hyperactivity disorder, Ataxia, Dysphagia, ... OMIM:619312
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Spasticity, Difficulty walking, Motor stereotypy OMIM:617393
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Neu... ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ptosis, Ataxia, Abnormal pyramidal si... OMIM:614831
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Tremor, Anteverted ears, Recurrent han... ORPHA:544254
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Muscle weakness, Paraparesis ORPHA:99014
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Fever, Abnormal autonomic nervous system physiology ORPHA:83601
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Motor stereotypy OMIM:615282
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Sensorineural hearing... OMIM:302800
Infantile Neuronal Ceroid Lipofuscinosis
Poor head control, Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dy... ORPHA:79263
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Hypothermia, Umbilical hernia ORPHA:226313
Undifferentiated Pleomorphic Sarcoma
Fever, Weight loss ORPHA:2023
Alexander Disease
Hypothermia, Chorea, Tetraplegia, Tremor, Spasticity, Abnormal autonomic nervous system physiolog... ORPHA:58
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro... ORPHA:137898
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Abnormality of temperature regulation, Abnormal nerve conduction velocit... ORPHA:2926
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Gowers sign, Tremor, Upper limb muscle weakness, Lower limb muscle weakness ORPHA:209335
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Sensorineural hearing impairment, Tremor, Dysdiadochokinesis, G... OMIM:610185
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Progressive cerebellar ataxia, Spasticity, Frequent falls, Intention tremor, Gait ... ORPHA:466794
Spinocerebellar Ataxia, Autosomal Recessive 31
Bruxism, Tremor, Bilateral sensorineural hearing impairment, Ptosis, Dystonia, Ataxia, Dysphagia,... OMIM:619422
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Hsd10 Disease
Tremor, Gait disturbance, Hearing impairment, Rigidity, Ataxia, Dysphagia, Myoclonus, Spastic par... ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Compulsive behaviors, Titubation, Ataxia, Unsteady gait, Dysmetria OMIM:619405
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Ataxia, Spastic atax... OMIM:616795
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Small for gestational age, Hyperventilation OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Lower limb spasticity, Chorea, Progressive spasticity, Low-set ears, Decreased... OMIM:300260
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Intention ... ORPHA:171695
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Dysphagi... OMIM:609270
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism... OMIM:619738
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Upper limb muscle weakness, Fatiguable weakness of proximal limb mus... ORPHA:90117
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Chorea, Dystonia, Ataxia, Motor stereotypy, Myoclonus,... OMIM:619317
Posttransplant Acute Limbic Encephalitis
Dystonia, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:163921
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Proximal muscle weakness OMIM:612016
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dys... OMIM:168600
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Tremor, Gait disturbance, Macrotia, Upper limb spasticity, Motor stereoty... ORPHA:457240
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal muscle weakness OMIM:607734
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Failure to thrive, Ataxia, Large fleshy ears, Attention de... OMIM:619556
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Malignant hyperthermia, Torticollis OMIM:217150
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Arthrogryposis multiplex congenita, Abnormal autonomic nervous system phys... OMIM:243180
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness OMIM:254950
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Telecanthus, Hyperactivity, Almond-shaped palpebral fissure, Macrotia, Downslanted palpebral fiss... OMIM:620292
Multicentric Reticulohistiocytosis
Fever, Cachexia ORPHA:139436
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Abnormal autonomic nervous system ph... OMIM:105210
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Crigler-Najjar Syndrome Type 1
Oculomotor nerve palsy, Tremor ORPHA:79234
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Babins... ORPHA:52368
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
4Q21 Microdeletion Syndrome
Tremor, Low-set ears, Synophrys, Hearing impairment, Ptosis, Long eyelashes, Agenesis of corpus c... ORPHA:238750
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Muscle weakness... ORPHA:96
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Sensorineural hearing impairment, Hyperactivity, Stereotypical hand wringi... OMIM:600430
Pelizaeus-Merzbacher Disease, Classic Form
Poor head control, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic t... ORPHA:280219
Meningococcal Meningitis
Fever, Papilledema, Hypothermia ORPHA:33475
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Difficulty walking, ... ORPHA:206443
Pelizaeus-Merzbacher Disease
Writer's cramp, Inability to walk, Broad-based gait, Tremor, Intention tremor, Hearing impairment... OMIM:312080
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Spasticity, Autonomic erectile dysfunction, Ataxia, Orthostatic hypotension due to... OMIM:169500
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Oromotor apraxia, Spasticity, Abnormal autonomic nervous system physiology, Growth... ORPHA:466934
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Obsessive-compulsive trait, Resting tremor, Poor fine motor coordination, Dysdiadoc... OMIM:300623
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ata... OMIM:117360
Oculopharyngodistal Myopathy 4
Postural tremor, External ophthalmoplegia, Tremor, Distal muscle weakness OMIM:619790
Sneddon Syndrome
Chorea, Hemiparesis, Tremor, Muscle weakness ORPHA:820
Amyotrophic Lateral Sclerosis 8
Progressive muscle weakness, Fasciculations, Distal muscle weakness, Abnormal pyramidal sign, Pro... OMIM:608627
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Athetosis, Temperature instability, Dystonia, Spastic tetraplegia, Intrauterine growth re... OMIM:619922
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Difficulty walking, Broad-based gait, Spasticity, Gait ataxia, Dystonia, Motor stereotypy, Promin... OMIM:617807
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Ptosis, Dystonia, Myoclon... ORPHA:254881
Urocanic Aciduria
Action tremor, Truncal ataxia, Ataxia, Gait ataxia ORPHA:210128
Familial Thyroid Dyshormonogenesis
Hypothermia, Umbilical hernia ORPHA:95716
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Impaired platelet aggregation, Abnormal platelet shape, Impaired ... OMIM:601399
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Ptosis, Dystonia, Myoclonus, Impaired tandem gait, Hand... OMIM:619724
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short palpebral fissure, Hypertonia, Recurrent hand flapping, Compulsive behaviors, Gait disturba... OMIM:300986
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hypertonia, Hypothermia, Chorea, Spasticity, Gait ataxia, Fever, Failure to thrive... ORPHA:255210
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Spasticity, Low-set ears, Compulsive behaviors, Obesity, Posteriorly rotated ears,... OMIM:618430
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... ORPHA:101
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Low-set ears, Motor stereotypy, Lateral ventricle dilatation, Upslanted palpeb... OMIM:613443
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Ataxia OMIM:603585
Dentici-Novelli Neurodevelopmental Syndrome
Hypertonia, Inability to walk, Hearing impairment, Macrotia, Motor stereotypy, Upslanted palpebra... OMIM:619877
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Involuntary movements, Lateral ventricle dilatation, Large earlobe, Bruxism, U... OMIM:615716
Melkersson-Rosenthal Syndrome
Fever, Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Limb ataxia, Broad-based gait, Truncal ataxia, Low-set ears, Recurrent hand flapping, Downslanted... OMIM:617101
Chromosome 5P13 Duplication Syndrome
Short palpebral fissure, Small for gestational age, Low-set ears, Compulsive behaviors, Long palp... OMIM:613174
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Marbach-Schaaf Neurodevelopmental Syndrome
Short palpebral fissure, Recurrent otitis media, Torticollis, Tremor, Recurrent hand flapping, Sp... OMIM:619680
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral ptosis, Broad-based gait, Synophrys, Hearing impairment, Epicanthus, Motor stereotypy, ... OMIM:616351
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Perry Syndrome
Bradykinesia, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dystonia, Disinhibition, Parkin... OMIM:168605
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Fasciculations, Tremor, Triceps weakness, Distal muscle weakness, First dorsal interossei muscle ... OMIM:619574
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Oromandibular Dystonia
Hyperkinetic movements, Torticollis, Bruxism, Blepharospasm, Lingual dystonia, Limb dystonia, Dys... ORPHA:93958
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Episodic ataxia, Ptosis, Dystonia, Agenesis of corpus callosum, Myoclonus, Choreoathetosi... OMIM:312170
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Failure to thrive, Spasticity, Hypothermia OMIM:618329
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Progressive externa... OMIM:208920
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Oculogyric crisis, Oral-pharyngeal dysphagia, Spasticity... ORPHA:208447
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Tremor, Decreased circulating IgA level, Muscle weakness OMIM:617744
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hypertonia, Tongue thrusting, Broad-based gait, Highly arched eyebrow, Hyperactivity, Progressive... OMIM:617865
Oculopharyngodistal Myopathy 3
Neck muscle weakness, Tremor, Limb muscle weakness, Ophthalmoplegia, Ataxia OMIM:619473
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Downslanted palpebral fissures, Motor stereotypy, Attention defici... OMIM:301029
Neuronal Intranuclear Inclusion Disease
Rigidity, Tremor, Ataxia, Muscle weakness OMIM:603472
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Short stature, Rigidity, Dystonia, Ataxia,... OMIM:612438
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria OMIM:617810
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Prolonged bleeding time, Impaired risto... OMIM:231200
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Cerebral palsy, Slender build, Motor stereotypy, ... OMIM:617600
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism, Clumsiness, Postural tremor OMIM:619911
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Spastic hemiparesis, Spasticity, Fever, Ataxia, Weight loss, Myoclonus ORPHA:20
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Compulsive behaviors, Synophrys, Macrotia, Downslanted palpebral fissures, Ptosis, Thick ... OMIM:617061
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p... OMIM:146500
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Hypertonia, Broad-based gait, Spasticity, Gait disturbance, Speech ... OMIM:300352
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Decreased distal sensory nerve action potential, Abnormal autonomic nervous system p... OMIM:614575
Timothy Syndrome
Hypothermia OMIM:601005
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy, Thin eyebrow OMIM:619690
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Hyperactivity, Polyphagia, Synophrys, Ataxia, Motor stereotypy, Self-injur... ORPHA:228402
Spinocerebellar Ataxia Type 18
Titubation, Head tremor, Hearing impairment, Gait ataxia, Somatic sensory dysfunction, Dysmetria ORPHA:98771
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor, Agenesis of corpus callosum OMIM:231950
Brody Disease
Fasciculations, Malignant hyperthermia, Flexion contracture OMIM:601003
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069