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
increased neutrophil cell number Acheem1(IMPC)Mbp HET Early adult 8.30×10-07
no spontaneous movement Acheem1(IMPC)Mbp HOM E18.5 0.00
preweaning lethality, incomplete penetrance Acheem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Acheem1(IMPC)Mbp HOM E18.5 0.00
abnormal heart morphology Acheem1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Acheem1(IMPC)Mbp HET E18.5 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.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

MicroCT E18.5

Embryo reconstruction

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 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
Amyotrophic Lateral Sclerosis 3
Lower limb muscle weakness OMIM:606640
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, Slurred speech, Gait ataxia, Muscle weakness ORPHA:401953
Episodic Ataxia, Type 7
Muscle weakness, Episodic ataxia OMIM:611907
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Proximal muscle weakness OMIM:616231
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Episodic Ataxia, Type 8
Ataxia, Intention tremor, Muscle weakness, Slurred speech, Episodic ataxia OMIM:616055
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Muscle weakness, Tremor OMIM:614369
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal muscle weakness, Vocal cord paralysis, Vocal cord paresis, Tremor OMIM:158580
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Glutathionuria
Tremor OMIM:231950
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Spastic Paraplegia 42, Autosomal Dominant
Spastic paraplegia, Spastic gait, Babinski sign, Muscle weakness OMIM:612539
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Fasciculations, Tremor, Proximal muscle weakness OMIM:182980
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Neuropathy, Hereditary Thermosensitive
Muscle weakness OMIM:602107
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Babinski sign, Tremor, Muscle weakness, Spasticity OMIM:611105
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Myasthenic Syndrome, Congenital, 23, Presynaptic
Frequent falls, Neck muscle weakness, Muscle weakness OMIM:618197
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Spinocerebellar Ataxia Type 38
Distal muscle weakness, Gait ataxia, Tremor ORPHA:423296
Immunodeficiency 108 With Autoinflammation
Recurrent fever, Fever OMIM:260570
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Pulmonary Blastoma
Fever, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Thrombocythemia 1
Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... OMIM:187950
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Muscular Dystrophy, Scapulohumeral
Muscle weakness OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness OMIM:254100
Tuberculosis
Fever, Weight loss, Cough ORPHA:3389
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Abnormal autonomic nervous system physiology, Oculogyric crisis, Dysdiadochokinesis, Park... OMIM:618049
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Monomelic Amyotrophy
Tremor, Fasciculations, Muscle weakness ORPHA:65684
Myopathy, Spheroid Body
Distal muscle weakness, Neck flexor weakness, Tremor, Muscle weakness, Proximal muscle weakness OMIM:182920
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Muscle weakness ORPHA:85162
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Abnorma... ORPHA:251282
Caribbean Parkinsonism
Action tremor, Bradykinesia, Abnormal autonomic nervous system physiology, Orthostatic hypotensio... ORPHA:97355
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Distal muscle weakness, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Sp... OMIM:607317
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Parkinsonism, Rigidit... OMIM:605407
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Generalized muscle weakness, Hand tremor OMIM:609153
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Limb muscle weakness, Progressive gait ataxia OMIM:607458
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Muscle weakness OMIM:615048
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
External ophthalmoplegia, Fatigable weakness, Proximal muscle weakness OMIM:254190
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Truncal ataxia, Unsteady gait OMIM:614063
Developmental And Epileptic Encephalopathy 97
Tremor, Poor head control, Stereotypical hand wringing OMIM:619561
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Apneic episodes in infancy OMIM:610006
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Distal muscle weakness, Tremor, Proximal muscle weakness, External ophthalmoplegia OMIM:618637
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Fever, Reduced forced vital capacity, Cough, Intercostal... ORPHA:91359
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Limb muscle weakness, Muscle weakness OMIM:619141
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Abnormality of e... OMIM:300894
Multiple System Atrophy
Axial dystonia, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Abnormal autonomic... ORPHA:102
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia, Myoclonus, Growth delay, Abnormal autonomic nervous system physiology ORPHA:168593
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysm... ORPHA:363710
Developmental And Epileptic Encephalopathy 78
Hypothermia, Cerebral palsy, Spasticity, Chorea OMIM:618557
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Tremor, Epicanthus, Low-set ears OMIM:618951
Spontaneous Periodic Hypothermia
Abnormal pattern of respiration, Hypothermia ORPHA:29822
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Muscle weakness, Hand tremor OMIM:253550
Migraine, Familial Hemiplegic, 1
Hemiplegia, Fever, Ataxia, Hemiparesis, Tremor OMIM:141500
Barth Syndrome
Abnormality of neutrophils, Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, External ophthalmop... OMIM:615768
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Poor head control, Dystonia OMIM:619651
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Ophthalmoparesis, Head tremor, Kinetic tremor... ORPHA:101109
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk OMIM:606053
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Macrophagic Myofasciitis
Myalgia, Generalized muscle weakness, Fatigue, Arthralgia ORPHA:592
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Parkinsonism, Ri... ORPHA:329284
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Spasticity... ORPHA:99027
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... ORPHA:157941
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Lower limb muscle weakness, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lowe... OMIM:600363
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Babinski sign, Incoordi... OMIM:613908
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia OMIM:614860
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Abnormal autonomic... ORPHA:98933
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Kinetic tremor, Narrow palpebral fissure, Waddling gait, Macrotia, Blepharophi... OMIM:616269
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... OMIM:610245
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Proximal muscle weakness OMIM:612016
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Gabriele-De Vries Syndrome
Abnormal pinna morphology, Downslanted palpebral fissures, Tremor, Waddling gait, Posteriorly rot... OMIM:617557
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Hypertonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Failure to thrive, Respiratory insufficiency, Neonatal respiratory distress, Respira... OMIM:245400
Neuropathy, Painful
Fever OMIM:256870
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity OMIM:617393
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age, Gait ataxia, Macrotia, Low-set ea... OMIM:609425
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Neck ... OMIM:606703
Spinal Muscular Atrophy, Type Iii
Hand tremor, Pelvic girdle muscle weakness, Limb fasciculations, Lower limb muscle weakness, Prox... OMIM:253400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... ORPHA:139578
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... OMIM:270500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Gowers sign, Myoclonus, Fasciculations, Tongue fasciculations, Frequent falls, Tremor, Proximal m... OMIM:159950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal muscle weakness, Foot dorsiflexor weakness, Tremor, Gait ataxia OMIM:618387
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor ORPHA:210571
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Abnormal autonomic... ORPHA:227510
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia, Tachypnea OMIM:616501
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Inguinal hernia, Flexion contracture, Abnormal autonomic nervous system physiology, B... OMIM:614498
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia, Dystonia OMIM:619150
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Tip-toe gait, Frequent falls, Gait disturbance, Spasticity, Weig... ORPHA:216866
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Tremor, Spasticity, Dystonia, Progressive sensorine... OMIM:304700
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Parkinsonism, Ophthalmoparesis, Tremor OMIM:260540
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Epicanthus, Choreoathetosis,... OMIM:618218
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Primary Erythromelalgia
Hypothermia ORPHA:90026
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Large fleshy ears, Upslanted palpebral fissure, Overfolded ... OMIM:619092
Permanent Congenital Hypothyroidism
Hypothermia, Tetraplegia, Umbilical hernia, Short stature ORPHA:226292
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Downslanted palpebral fissures, Epicanthus, Gait atax... OMIM:619717
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Abnormal autonomic nervous system physiology DECIPHER:59
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Nonprogressive cerebellar ataxia, Babinski sign, Truncal... ORPHA:453521
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thr... OMIM:187800
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Heat intolerance, Respiratory failure OMIM:619483
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Hyperphenylalaninemia, Bh4-Deficient, A
Recurrent fever, Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigid... OMIM:261640
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Epicanthus ORPHA:100973
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Fasciculations, Tremor, Tongue fasciculations, Distal lo... ORPHA:276435
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Decreased body weight, Limb ataxia... OMIM:617695
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Involuntary movements, Spasticity, Dystonia OMIM:617820
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walkin... ORPHA:477673
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Bulbar palsy, Parkinsonism, Muscle weakness OMIM:105500
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Cold paresis, Fasciculations, Tremor, Upper limb muscle wea... ORPHA:99965
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Asherman Syndrome
Infertility, Episodic abdominal pain, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of ... ORPHA:137686
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Hyperphenylalaninemia, Bh4-Deficient, C
Recurrent fever, Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Riboflavin Transporter Deficiency
Ataxia, Abnormal autonomic nervous system physiology, Cachexia, Myoclonus, Optic disc pallor, Abn... ORPHA:97229
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Tetanus
Hypertonia, Fever, Abnormal autonomic nervous system physiology, Opisthotonus, Rigidity, Autonomi... ORPHA:3299
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Limb muscle weakness, Bulbar palsy OMIM:313200
Riboflavin Deficiency
Hypothermia OMIM:615026
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Fatal Familial Insomnia
Fever, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus, Weight loss OMIM:600072
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Foot dorsiflexor weakness OMIM:616668
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment ORPHA:101075
Spinocerebellar Ataxia 7
Supranuclear ophthalmoplegia, Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tr... OMIM:164500
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Sleep apnea, Fever, Hypothermia, Abnormality of temperature regulation, Recurrent pneumonia, Obes... OMIM:618493
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Hypothermia, Large for gestational age ORPHA:226313
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Hyperventilation, Small for gestational age OMIM:618775
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Obesity-Hypoventilation Syndrome
Obesity, Hypoventilation OMIM:257500
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity OMIM:614947
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Inability to walk, Dystonia, Chorea OMIM:618760
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... ORPHA:98763
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss, Parkinsonism, Abnormal autonomic nervous system physiology OMIM:605543
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness OMIM:159050
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity, Small for gestational age OMIM:278780
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Distal muscle weakness, Babinski sign, Foot dorsiflexor weakness, Tremor, Limb muscle... OMIM:609260
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Broad-based gait, Motor stereotypy OMIM:619470
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Intermi... OMIM:608643
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Mitchell Syndrome
Clumsiness, Abnormal autonomic nervous system physiology OMIM:618960
Amyotrophy, Monomelic
Upper limb muscle weakness, Cold paresis, Fasciculations OMIM:602440
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Amyotrophic Lateral Sclerosis 18
Fasciculations, Muscle weakness, Spasticity OMIM:614808
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Proximal muscle weakne... ORPHA:139485
Idiopathic Congenital Hypothyroidism
Hypothermia, Umbilical hernia ORPHA:95717
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Decreased body weight, Myoclonus, Hyperkinetic movements, St... ORPHA:561854
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Progressive Nodular Histiocytosis
Cachexia, Fever ORPHA:158022
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment ORPHA:101078
Menkes Disease
Hypothermia, Hypertonia, Short stature, Babinski sign, Intrauterine growth retardation OMIM:309400
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Myositis
Proximal muscle weakness OMIM:160750
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Clumsiness, Progressive cerebellar ataxia, Abnormal pyrami... ORPHA:98757
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Clumsiness, Dysmetria, Short stature, Intention tremor, Babinski sign, Spastic dysarthria... ORPHA:447896
Amyotrophic Lateral Sclerosis 16, Juvenile
Limb muscle weakness, Muscle weakness, Spasticity OMIM:614373
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Glycogen Storage Disease Xv
Muscle weakness OMIM:613507
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequ... ORPHA:2590
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Short palpebral fissure, Upslanted palpebral fissure, Small for ges... ORPHA:352490
Amish Nemaline Myopathy
Progressive muscle weakness, Tremor, Respiratory insufficiency due to muscle weakness ORPHA:98902
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral p... ORPHA:70594
Autosomal Recessive Dopa-Responsive Dystonia
Fever, Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus,... ORPHA:101150
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Mac... OMIM:155100
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... OMIM:617225
Epilepsy, Familial Adult Myoclonic, 1
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex OMIM:601068
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... ORPHA:3095
Snijders Blok-Campeau Syndrome
Motor stereotypy, Broad-based gait, Epicanthus, Speech apraxia, Unsteady gait, Low-set ears OMIM:618205
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Failure to thrive in infancy OMIM:619175
Obesity Due To Sim1 Deficiency
Obesity, Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tac... ORPHA:369873
Intellectual Developmental Disorder, X-Linked 109
Epicanthus, Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Progressive cerebellar ataxia, Dysmetria, Vestibular areflexia, Intention tremor, Distal muscle w... ORPHA:504476
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Downslanted palpebral fissures, Speech apraxia, Obesity, Failure to thrive in i... OMIM:613670
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Roussy-Levy Hereditary Areflexic Dystasia
Distal muscle weakness, Upper limb postural tremor, Action tremor, Gait ataxia OMIM:180800
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... OMIM:614831
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Hypertonia, Ataxia, Tremor, Adult onset sensorineural hearing i... ORPHA:1368
Meningococcal Meningitis
Neonatal respiratory distress, Hypothermia, Fever ORPHA:33475
Infantile Neuroaxonal Dystrophy
Ataxia, Flexion contracture, Abnormal autonomic nervous system physiology, Abnormal pyramidal sig... ORPHA:35069
Machado-Joseph Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Abnormal autonomic nervous system physiology... OMIM:109150
Cataract, Ataxia, Short Stature, And Mental Retardation
Ataxia, Muscle weakness, Postural tremor OMIM:300619
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Abnormal pinna morphology, Small for gestational age, Stereotypical han... OMIM:614104
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... ORPHA:101077
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Myoclonus, Fever, Paralysis, Abnormal autonomic nervous system physiology ORPHA:83601
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Tremor, Spasticity, Low-set ears OMIM:618718
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... ORPHA:284324
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Muscle weakness, Spasticity, Poor motor coordination, Ocu... ORPHA:1170
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Spastic ataxia, Poor f... ORPHA:137898
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity... OMIM:618917
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Central hypoventilation, Apnea, Respiratory insufficiency, Failure to thrive OMIM:300673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypothermia, Episodic tachypnea, Small for gestational age, Tachypnea, Pneu... ORPHA:26793
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Prominent ear helix, Large earlobe, Inability to walk, Thick eyebrow, Myoclonus... ORPHA:411986
Undifferentiated Pleomorphic Sarcoma
Fever, Weight loss ORPHA:2023
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Lateral ventricle dilatation, Difficulty walking... ORPHA:306669
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Bilateral ptosis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Lower limb muscle weakness, Tremor, Upper limb muscle weakness, Fatiguable w... ORPHA:90117
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Protruding ear, Thick eyebrow, Spastic diplegia, Downslanted palpebral fissures, Tremor, Hearing ... ORPHA:480907
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity OMIM:616494
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Abnormal autonomic nervous system physiology, Optic atrophy, Spasticity, Tem... OMIM:616683
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia OMIM:606438
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Spasticity, Abnormal pinna morphology OMIM:300983
Hypomagnesemia 6, Renal
Muscle weakness OMIM:613882
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Abnormal autonomic nervous system physiology, Resting tremor, Intention tremor, Dysdiadoc... ORPHA:247234
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia, Muscle weakness ORPHA:99014
Hyperprolinemia, Type I
Motor stereotypy, Ataxia OMIM:239500
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Rigidity, ... OMIM:616840
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Dystonia OMIM:600795
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity ORPHA:500545
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypothermia, Respiratory insufficiency, Respiratory failure OMIM:618329
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Abnormal autonomic nervous system physiology OMIM:156310
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Spastic paraparesis, Resting tremor, Ankle clonus, Babinski sign, Lateral ventricle... ORPHA:363654
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Poor head control, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclo... ORPHA:79263
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Diamond-Blackfan Anemia 4
Atrial septal defect, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Xq28 (MECP2) duplication
Motor stereotypy, Failure to thrive, Inability to walk, Progressive spasticity, Gait ataxia, Macr... DECIPHER:45
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Abnormality of coordinat... ORPHA:352649
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Synophrys, Impaired pain sensa... ORPHA:505652
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Sensorineural hearing impairment, Hand tremor, Dysmetria, Tip-toe gait, Babinski sig... OMIM:302800
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Sensorineural hearing impairment, Protruding ear, Decreased body weight, Downsl... OMIM:618342
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia ORPHA:324588
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Fever, Progressive cerebellar ataxia, Intention tremor, Optic atrophy, Frequent falls, Gait ataxi... ORPHA:466794
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Christianson Syndrome
Motor stereotypy, Thick eyebrow, Cachexia, Truncal ataxia, Gait ataxia, Macrotia, Dystonia ORPHA:85278
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor, Thrombocytopenia OMIM:254900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal muscle weakness, Tremor OMIM:607734
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Camptodactyly of finger, Heat intolerance, Abnormal nerve ... ORPHA:2926
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Fre... ORPHA:93952
Alexander Disease
Hypothermia, Ataxia, Failure to thrive, Abnormal autonomic nervous system physiology, Abnormal py... ORPHA:58
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Thick eyebrow, Recurrent hand flapping, Sparse eyebrow, Telecanthus, Epicanthus, Macrotia, Ptosis OMIM:617268
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Synophrys, Macrotia OMIM:615541
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dy... OMIM:105210
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis, Hear... ORPHA:391417
Dystonia 34, Myoclonic
Torticollis, Hand tremor, Myoclonus, Head tremor, Writer's cramp, Impaired tandem gait, Dystonia,... OMIM:619724
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Hearing impairment, Dystonia OMIM:612438
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clea... OMIM:618449
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Malignant hyperthermia, Arthrogryposis multiplex congenita OMIM:217150
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness OMIM:254950
Congenital Enterovirus Infection
Respiratory distress, Hypothermia, Fever, Pleural effusion ORPHA:292
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Upslanted palpebral fissure, Difficulty walking, Gai... OMIM:617807
Spinocerebellar Ataxia Type 36
Ataxia, Dysmetria, Limb ataxia, Hand tremor, Intention tremor, Babinski sign, Head tremor, Trunca... ORPHA:276198
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Foot dorsiflexor weakness, Spastic paraplegia, Tremor, Spa... OMIM:616586
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Macrotia, Anteverte... ORPHA:544254
Mitochondrial Complex I Deficiency, Nuclear Type 9
Breathing dysregulation, Hypoventilation OMIM:618232
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Sudden episodic apnea, Hypothermia ORPHA:159
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Fever, Episodic respiratory distress, Hypothermia, Failure to thrive, Hyperventilation, Dy... ORPHA:255210
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Multicentric Reticulohistiocytosis
Cachexia, Fever ORPHA:139436
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Arthrogryposis multiplex congenita, Gait ataxia, Aganglionic megacolon, Abnormal autonomic nervou... OMIM:243180
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Fever, Hyperventilation OMIM:229700
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Abnormal autonomic nervous system physiology, Intention tremor, Myoclonus, Abnormal... ORPHA:171695
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, U... OMIM:616795
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Abnormal autonomic nervous system physiology, Rigidity, Parkinsonis... OMIM:168600
Attrv30M Amyloidosis
Weight loss, Abnormal autonomic nervous system physiology ORPHA:85447
Crigler-Najjar Syndrome Type 1
Oculomotor nerve palsy, Tremor ORPHA:79234
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait OMIM:619405
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Recurrent hand flapping, Downslanted palpebral fissures, Overweight, Posteriorly rota... OMIM:615032
Radio-Tartaglia Syndrome
Motor stereotypy, Large earlobe, Ataxia, Conductive hearing impairment, Gait imbalance, Thick eye... OMIM:619312
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Pulmonary arterial hypertension, Abnormal posturing, Tachypnea OMIM:614857
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Hyperphenylalaninemia, Bh4-Deficient, B
Recurrent fever, Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dyst... OMIM:233910
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Upslanted palpebral fissure, Macrotia, Hearing i... OMIM:619877
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Ciliary Dyskinesia, Primary, 32
Infertility, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia OMIM:616481
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Familial Thyroid Dyshormonogenesis
Hypothermia, Umbilical hernia ORPHA:95716
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... ORPHA:96
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Large fleshy ears, Hypertonia, Ataxia, Inability to walk, Failure to thrive, Tremor OMIM:619556
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor, Hearing impairment, Long eyelashes, Synophrys, Low-set ears, Agenesis o... ORPHA:238750
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Macrotia, Upper limb spastici... ORPHA:457240
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Impaired platelet aggregation, Abnormal alpha granule content, Th... OMIM:601399
Posttransplant Acute Limbic Encephalitis
Myoclonus, Ataxia, Dystonia, Abnormal autonomic nervous system physiology ORPHA:163921
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Broad-based gait, Upslanted palpebral fissure, Bilateral ptosis, Epicanthus, Sy... OMIM:616351
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... OMIM:619911
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Dysto... ORPHA:280219
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Short palpebral fissure, Upslanted palpebral fissure, Small for gestational age... OMIM:613174
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Kufor-Rakeb Syndrome
Torticollis, Paraparesis, Ataxia, Parkinsonism with favorable response to dopaminergic medication... OMIM:606693
Oculopharyngodistal Myopathy 4
External ophthalmoplegia, Distal muscle weakness, Postural tremor, Tremor OMIM:619790
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Limb hypertonia, Myoclonus, Rigidity, Downslanted palpebral fissures, ... ORPHA:442835
Amyotrophic Lateral Sclerosis 8
Distal muscle weakness, Abnormal pyramidal sign, Fasciculations, Progressive muscle weakness, Pro... OMIM:608627
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... OMIM:617013
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis OMIM:300991
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Pain insensitivity, Inability to walk, Decreased body weight, Upslanted... OMIM:300260
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Melkersson-Rosenthal Syndrome
Fever, Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Pelizaeus-Merzbacher Disease
Broad-based gait, Failure to thrive, Ataxia, Inability to walk, Intention tremor, Abnormal pyrami... OMIM:312080
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Autonomic erectile dysfunction, Pseudobulbar paralysis, Orthostatic hypotension due to au... OMIM:169500
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Multiple joint contractures, Abnormal autonomic nervous system physiology, Oromotor apraxia, Opti... ORPHA:466934
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Decreased circulating IgA level, Decreased circulating antibody level, Muscle weakness OMIM:617744
Sneddon Syndrome
Tremor, Muscle weakness, Chorea, Hemiparesis ORPHA:820
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity ORPHA:33445
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Failure to thrive, Growth delay OMIM:251880
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Abnormal number of alpha granules, Impaired throm... OMIM:139090
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Obesity, Lower limb spast... ORPHA:3077
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Axial dystonia, ... ORPHA:240071
Spinocerebellar Ataxia Type 18
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Hearing impairment ORPHA:98771
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Infertility OMIM:615872
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Downslanted palpebral fissures, Bilateral ptosis, Recurrent hand flapping, Spasticity OMIM:618859
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... ORPHA:255
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Thin eyebrow OMIM:619690
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib OMIM:603585
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, Po... ORPHA:52368
Late-Infantile/Juvenile Krabbe Disease