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
no spontaneous movement Acheem1(IMPC)Mbp HOM E18.5 0.00
increased neutrophil cell number Acheem1(IMPC)Mbp HET Early adult 1.29×10-06
hemorrhage Acheem1(IMPC)Mbp HOM E18.5 0.00
no spontaneous movement Acheem1(IMPC)Mbp HET E18.5 0.00
preweaning lethality, incomplete penetrance Acheem1(IMPC)Mbp HOM   Early adult 0.00
abnormal heart morphology Acheem1(IMPC)Mbp HET Early adult 0.00
small heart Acheem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

60 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
Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport
Muscle weakness OMIM:251945
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Episodic Ataxia With Slurred Speech
Muscle weakness, Tremor, Gait ataxia, Slurred speech 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
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Episodic Ataxia, Type 8
Muscle weakness, Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal muscle weakness, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Muscle weakness, Tremor, Distal muscle weakness OMIM:614369
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Spastic Paraplegia 42, Autosomal Dominant
Spastic paraplegia, Spastic gait, Muscle weakness, Babinski sign OMIM:612539
Glutathionuria
Tremor OMIM:231950
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Neuropathy, Hereditary Thermosensitive
Muscle weakness OMIM:602107
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Muscle weakness, Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Proximal muscle weakness OMIM:182980
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Myasthenic Syndrome, Congenital, 23, Presynaptic
Neck muscle weakness, Frequent falls, Muscle weakness OMIM:618197
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Babinski... OMIM:300660
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Steppage gait, Hand tremor, Sensorineural hearing impairment OMIM:300905
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia Type 38
Distal muscle weakness, Tremor, Gait ataxia ORPHA:423296
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Fever, Recurrent fever OMIM:260570
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal muscle weakness, Distal lower limb muscle weakness, Paresis of extensor muscles of the big... OMIM:158590
Pulmonary Blastoma
Dyspnea, Cough, Weight loss, Recurrent pneumonia, Fever ORPHA:64741
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Oculopharyngeal Muscular Dystrophy
Neck muscle weakness, Proximal muscle weakness, Distal muscle weakness, Facial palsy, Limb muscle... OMIM:164300
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Muscular Dystrophy, Scapulohumeral
Muscle weakness OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness OMIM:254100
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Spinal Muscular Atrophy, Type Iii
Muscle weakness, Hand tremor, Proximal muscle weakness, Tongue fasciculations, Limb fasciculations OMIM:253400
Tuberculosis
Cough, Fever, Weight loss ORPHA:3389
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet ... OMIM:187950
Monomelic Amyotrophy
Muscle weakness, Fasciculations, Tremor ORPHA:65684
Myopathy, Spheroid Body
Muscle weakness, Tremor, Proximal muscle weakness, Distal muscle weakness, Neck flexor weakness OMIM:182920
N-Acetylaspartate Deficiency
Truncal ataxia, Decreased body weight, Unsteady gait, Stereotypy, Microcephaly OMIM:614063
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Hearing impairment, Spasticity ORPHA:217012
Facial Onset Sensory And Motor Neuronopathy
Muscle weakness, Fasciculations ORPHA:85162
Sudden Infant Death Syndrome
Malignant hyperthermia, Apneic episodes in infancy OMIM:272120
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Generalized muscle weakness, Hand tremor, Periodic paralysis OMIM:609153
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Abnormal eyelid morphology, Spastic ataxia, Limb ataxia, Di... ORPHA:251282
Pontiac Fever
Cough, Fever ORPHA:99748
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Spinocerebellar Ataxia 35
Neck muscle weakness, Incoordination, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski ... OMIM:613908
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria, Limb muscle weakness OMIM:607458
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Neck muscle weakness, Gait ataxia, Limb ataxia, Progressive cerebellar at... ORPHA:276193
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness, External ophthalmoplegia, Proximal muscle weakness OMIM:254190
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Stereotypy OMIM:606053
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor, Proximal muscle weakness OMIM:271150
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Stereotypy, Progres... OMIM:617862
Spinal Muscular Atrophy, Jokela Type
Muscle weakness, Fasciculations, Tremor OMIM:615048
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Caribbean Parkinsonism
Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxia, Abnorma... ORPHA:97355
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Cerebral atrophy, Stereotypy, Failure to thrive, Microcephaly, Spasticity OMIM:617393
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, External ophthalmoplegia, Ataxia, Proximal muscle weakness, Distal muscle weakness OMIM:618637
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia,... OMIM:615889
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Microcephaly, Attent... OMIM:618709
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Muscle weakness, Fasciculations, Limb muscle weakness OMIM:619141
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Distal muscle weakness, Myoclonus, Babinski sign, Fasciculations, Fr... OMIM:607317
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Paroxysmal Non-Kinesigenic Dyskinesia
Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Generalized muscle weakne... ORPHA:98810
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait... ORPHA:401820
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypothermia OMIM:610006
Spinal Muscular Atrophy, Type Ii
Muscle weakness, Tongue fasciculations, Hand tremor OMIM:253550
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Abnormal posturing, Chorea, Gait disturbance, Poor fine ... ORPHA:157941
Cardiomyopathy, Dilated, 1X
Proximal muscle weakness OMIM:611615
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypothermia, Respiratory failure, Respiratory insufficiency OMIM:618329
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Abnormal cerebral white matter morphology, Epicanthus, Ataxia, Failure to thrive OMIM:618951
Gabriele-De Vries Syndrome
Dystonia, Tremor, Abnormal cerebral white matter morphology, Abnormality of the pinna, Posteriorl... OMIM:617557
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus, Growth delay, Hypothermia, Abnormal autonomic nervous system physiology ORPHA:168593
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, External ophthalmoplegia, Limb ataxia, Ankle clonus, Babinski sign, Spast... OMIM:615768
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Posteriorly rotated ears, Small for gestational age, Stereotypy, Hyperacti... OMIM:609425
Spontaneous Periodic Hypothermia
Hypothermia, Abnormal pattern of respiration ORPHA:29822
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... OMIM:273800
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Developmental And Epileptic Encephalopathy 78
Chorea, Hypothermia, Cerebral palsy, Spasticity OMIM:618557
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, Tremor, Ataxia, Spasticity OMIM:616494
Barth Syndrome
Abnormality of neutrophils, Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Eye of the tiger anomaly of globus pallidus, Abnormal posturing, Gait disturba... ORPHA:216866
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Fever OMIM:141500
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Muscle weakness, Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic me... ORPHA:314632
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Pa... ORPHA:521406
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Abnormal autonomic ner... OMIM:300894
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Parkinsonism, B... OMIM:617013
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb muscle weakness, Lower limb spasticity, Spastic gait, Babi... OMIM:600363
Multiple System Atrophy
Postural tremor, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bla... ORPHA:102
Macrophagic Myofasciitis
Generalized muscle weakness, Fatigue, Arthralgia, Myalgia ORPHA:592
Mental Retardation, Autosomal Recessive 48
Inability to walk, Kinetic tremor, Blepharophimosis, Macrotia, Narrow palpebral fissure, Waddling... OMIM:616269
Fraxe Intellectual Disability
Clumsiness, Epicanthus, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypica... ORPHA:100973
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Proximal muscle weakness, Myoclonus OMIM:612016
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Upp... ORPHA:99027
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... OMIM:618090
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign,... OMIM:610245
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Myopathy With Extrapyramidal Signs
Tremor, Abnormality of extrapyramidal motor function, Chorea, Ataxia, Proximal muscle weakness, O... OMIM:615673
Neuropathy, Painful
Fever OMIM:256870
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Tongue fascic... OMIM:159950
Parkinsonism-Dystonia, Infantile, 2
Temperature instability, Tremor, Gait ataxia, Incoordination, Abnormal autonomic nervous system p... OMIM:618049
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Epicanthus, Ataxia, Stereotypy, Involuntary ... OMIM:618218
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Neonatal respiratory distress, Respiratory failure, Failure to thrive,... OMIM:245400
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Muscle weakness, Tremor, Ataxia, Ophthalmoplegia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Aicardi-Goutieres Syndrome 6
Dystonia, Tremor, Loss of ability to walk, Cerebral calcification, Microcephaly, Rigidity OMIM:615010
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Mental Retardation, Autosomal Recessive 39
Macrotia, Synophrys, Stereotypy, Hyperactivity, Microcephaly OMIM:615541
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Decreased motor nerve conduction velocity, Abnormal autonomic nervous system ... ORPHA:139578
Developmental And Epileptic Encephalopathy 58
Inability to walk, Secondary microcephaly, Spastic diplegia, Stereotypy OMIM:617830
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Hypoplasia of the corpus callosum, ... OMIM:617695
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Distal muscle weakness, Dysmetria, Foot dorsiflexor weakness OMIM:618387
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Sensorineural hearing impair... OMIM:270500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Menkes Disease
Intrauterine growth retardation, Hypertonia, Hypothermia, Short stature OMIM:309400
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Abnormal autonomic nervous system physiology, Bradykinesia, Parkinso... ORPHA:329284
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Muscle weakness, Fasciculations OMIM:613954
Mohr-Tranebjaerg Syndrome
Progressive sensorineural hearing impairment, Dystonia, Tremor, Abnormal posturing, Postlingual s... OMIM:304700
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Hypertonia, Upslanted palpebra... OMIM:619092
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... OMIM:300423
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign, Diffuse c... OMIM:615362
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy, Microcephaly OMIM:619150
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bla... ORPHA:98933
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity, Ophthalmoparesis OMIM:260540
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... OMIM:615924
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Flexion contracture, Myoclonic spasms, Abnormal autonomic nervous system physiology, ... OMIM:614498
Myopathy, Congenital, With Tremor
Postural tremor, Tongue tremor, Proximal muscle weakness, Distal muscle weakness, Axial muscle we... OMIM:618524
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Ptosis, Parkinsonism, Limb dysto... ORPHA:101109
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Abnormal posturing, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Neuropathy, Hereditary, With Liability To Pressure Palsies
Muscle weakness, Vocal cord paralysis OMIM:162500
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Hypertonia, Secondary microcephaly, Polymicrogyria, Cortical d... OMIM:615282
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Abnormality of the pinna, Ataxia, Cerebral cortical at... OMIM:300983
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Unsteady gait... OMIM:616948
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Microcep... ORPHA:397946
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Primary Erythromelalgia
Hypothermia ORPHA:90026
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Muscle weakness, Parkinsonism, Bulbar palsy, Paralysis OMIM:105500
Permanent Congenital Hypothyroidism
Tetraplegia, Hypothermia, Short stature, Umbilical hernia ORPHA:226292
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Abnormal autonomic nervous system physiology DECIPHER:59
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Chorea, Hypoplasia of the corpus callosum, Cerebral atrophy, ... ORPHA:88616
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Platelet... OMIM:187800
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Muscle weakness, Tongue fasciculations OMIM:613435
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bla... ORPHA:227510
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Oculomotor apraxia, Synophrys,... ORPHA:453521
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Abnormal periventricular white matter morphology, Difficulty walking, Hypop... ORPHA:280763
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, Hypoplasia of the corpus callosum, Stereotypical hand wringing OMIM:618760
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Myoclonus, Cerebral calcification, Microcephaly, Choreoathetosis OMIM:261630
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal periventricular white matter morphology, Impaired vibra... OMIM:617225
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal ... ORPHA:276435
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Hypokalemic Periodic Paralysis, Type 1
Muscle weakness, Episodic flaccid weakness OMIM:170400
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Cerebral white matter hypoplasia, Failure to thrive, Stereotypical hand wringin... ORPHA:500545
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea, Hypothermia OMIM:616501
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Hypoplasia of the corpus callosum, Babinski sign,... ORPHA:477673
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
O'Sullivan-Mcleod Syndrome
Tremor, Increased circulating antibody level, Cold paresis, Fasciculations, Upper limb muscle wea... ORPHA:99965
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Foxg1 Syndrome
Inability to walk, Dystonia, Pachygyria, Difficulty walking, Hypoplasia of the corpus callosum, H... ORPHA:561854
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Cerebral atrophy, Progressive ... ORPHA:352641
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Ataxia, Abnormal platelet function ORPHA:2585
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ataxia, ... ORPHA:97229
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Foot dorsiflexor weakness OMIM:616668
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia, Hearing impairment, Impaired pain sensation ORPHA:101075
Tetanus
Tremor, Autonomic bladder dysfunction, Hypertonia, Abnormal autonomic nervous system physiology, ... ORPHA:3299
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Supranuclear ophthalmoplegia, Progr... OMIM:164500
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Ataxia, Weight loss, Myoclonus, Fever OMIM:600072
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, ... OMIM:614104
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Small for gestational ag... OMIM:261640
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Hypertonia, Upslanted palpebral fissure, Epicanthus, Short palpebral fissu... ORPHA:352490
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Mantle Cell Lymphoma
Fever, Weight loss ORPHA:52416
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness OMIM:159050
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Sparse eyebrow, Sparse eyelashes, Protruding ea... OMIM:617988
Amyotrophic Lateral Sclerosis 18
Muscle weakness, Fasciculations, Spasticity OMIM:614808
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Resting tremor, ... ORPHA:225147
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Hypothermia, Respiratory distress ORPHA:226313
Mental Retardation With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Stereotypy, Downslanted palpebral fissures, Attenti... OMIM:613670
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Sleep apnea, Hypoventilation, Recurrent pneumonia, Abnormality of temperature regulation, Hypothe... OMIM:618493
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Amyotrophic Lateral Sclerosis 8
Postural tremor, Proximal muscle weakness, Distal muscle weakness, Progressive muscle weakness, F... OMIM:608627
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Distal muscle weakness, Babinski sign, Limb muscle weakness, Foot dorsiflexor... OMIM:609260
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Amyotrophy, Monomelic
Fasciculations, Cold paresis, Upper limb muscle weakness OMIM:602440
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Obesity-Hypoventilation Syndrome
Hypoventilation, Obesity OMIM:257500
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Myo... ORPHA:98763
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Frontotemporal cerebral atrophy, Parkinsonis... OMIM:612953
Adult Intestinal Botulism
Muscle weakness, Diaphragmatic paralysis, Cerebral palsy, Respiratory insufficiency due to muscle... ORPHA:178487
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Stereotypy, Stereotypical han... OMIM:618917
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Small for gestational age, Hyperventilation OMIM:618775
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Limb muscle weakness, Bulbar palsy OMIM:313200
Parkinson Disease 4, Autosomal Dominant
Weight loss, Parkinsonism, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:605543
Amyotrophic Lateral Sclerosis 16, Juvenile
Muscle weakness, Limb muscle weakness, Spasticity OMIM:614373
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Macrotia, Cereb... ORPHA:85278
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Hypoplasia of ... OMIM:618877
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical ... ORPHA:306669
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy,... ORPHA:391417
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia, Hearing impairment, Impaired pain sensation ORPHA:101078
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... OMIM:173470
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Mitchell Syndrome
Clumsiness, Abnormal autonomic nervous system physiology OMIM:618960
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Idiopathic Congenital Hypothyroidism
Hypothermia, Umbilical hernia ORPHA:95717
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Impaired distal proprioception, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty wa... ORPHA:137898
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Occipital cortical atrophy, Hypoplasia of the corpus callosum, Long eyelashes,... ORPHA:411986
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Tremor, Ataxia, Spasticity OMIM:278780
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Myositis
Proximal muscle weakness OMIM:160750
Amish Nemaline Myopathy
Progressive muscle weakness, Tremor, Respiratory insufficiency due to muscle weakness ORPHA:98902
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Bradykinesia, Ankle clon... OMIM:617435
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Macrotia, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Microcephaly, Choreoathetosi... OMIM:300055
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Distal muscle weakness, Progressive cerebe... ORPHA:504476
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Hearing impairment, Myo... ORPHA:139485
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Hypoplasia of the corpus callosum, Stereotypy, Failure ... DECIPHER:45
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Progressive microcephaly, Macrotia ORPHA:397933
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Tremor, Hypoplasia of the corpus callosum, Spastic diplegia, Epicanthus, Synophrys, Lon... ORPHA:480907
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Failure to thrive in infancy OMIM:619175
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Roussy-Levy Hereditary Areflexic Dystasia
Distal muscle weakness, Gait ataxia, Upper limb postural tremor, Action tremor OMIM:180800
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cor... ORPHA:33445
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Bradykinesia, Oculogyric crisis, Limb hypertonia, Small for gestational age, Pt... ORPHA:70594
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Abnormal ... OMIM:302800
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Sensorineural hearin... ORPHA:2590
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Macrotia, Cerebral atrophy, Epicanthus, Thick eyebrow, Ptosis, Recurrent hand fla... OMIM:617268
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Stereotypy, Babinski sign, Rigi... OMIM:600795
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Weight loss, Rigidity OMIM:606438
Cataract, Ataxia, Short Stature, And Mental Retardation
Muscle weakness, Postural tremor, Ataxia OMIM:300619
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... ORPHA:93952
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... ORPHA:369873
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Recurrent hand flapping, Downslante... OMIM:618859
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Ataxia, Abnormal corpu... ORPHA:442835
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Myoclonus, Fever, Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis, Diffuse cerebral atro... ORPHA:330050
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Muscle weakness, Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Ophtha... ORPHA:1170
Meningococcal Meningitis
Neonatal respiratory distress, Hypothermia, Fever ORPHA:33475
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Glycogen Storage Disease Xv
Muscle weakness OMIM:613507
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Perching Syndrome
Camptodactyly, Fever, Flexion contracture OMIM:617055
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Abnormal cerebral white matter morphology, Myoclonus OMIM:618587
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Ptos... OMIM:614831
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated st... OMIM:608643
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Microcephaly, Choreoathetosis, Spast... OMIM:612716
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Undifferentiated Pleomorphic Sarcoma
Fever, Weight loss ORPHA:2023
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Fatiguable weakness of proximal limb muscles, Lower limb muscle weakness, Limb fasciculat... ORPHA:90117
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Cer... ORPHA:79263
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Microcephaly, Spasticity OMIM:618718
Orthostatic Hypotension 1
Intermittent hypothermia, Orthostatic hypotension OMIM:223360
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Hearing impairment, Microcephaly, Choreoathetosis, Spasticity OMIM:612438
Epilepsy, Familial Adult Myoclonic, 1
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex OMIM:601068
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Clumsiness, Autonomic bladder dysfunction, Intention tremor, Ataxia, Delayed pub... ORPHA:447896
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Hear... ORPHA:276198
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Failure to thrive, Central hypoventilation, Respiratory insufficiency OMIM:300673
Machado-Joseph Disease
Truncal ataxia, Abnormality of extrapyramidal motor function, Limb ataxia, Abnormal autonomic ner... OMIM:109150
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hypoplastic hippocampus, Hyperkinetic movements, Ataxia, Myo... OMIM:619317
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Paraparesis, Tremor, Ataxia ORPHA:99014
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, St... ORPHA:457240
Spinocerebellar Ataxia Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Progressive ce... ORPHA:98757
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Pelizaeus-Merzbacher Disease
Dystonia, Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Abnormal cranial nerve morphology, Gait ataxia, Abnormal vestibulo-ocular ref... ORPHA:247234
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Upslanted palpebral fissure, Abnormality of the pinna,... OMIM:617807
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Leukodystrophy, Hypomyelinating, 12
Temperature instability, Flexion contracture, Abnormal autonomic nervous system physiology, Optic... OMIM:616683
Hypomagnesemia 6, Renal
Muscle weakness OMIM:613882
Neuroferritinopathy
Dystonia, T2 hypointense thalamus, Palatal myoclonus, Chorea, Resting tremor, Writer's cramp, Iro... ORPHA:157846
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Secondary microcephaly, Ataxia, Stereotypy, Hyperactivity, Failure to thrive, Microceph... OMIM:300912
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait ORPHA:210128
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Head tremor, Abnormal... ORPHA:280219
Infantile Neuroaxonal Dystrophy
Temperature instability, Flexion contracture, Abnormal pyramidal sign, Abnormal autonomic nervous... ORPHA:35069
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Abnormal nerve conduction velocity, Camptodactyly of finger, Abnormality of tem... ORPHA:2926
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Hypoplasia of the corpus callosum, Abnormality of the pinna, Polymicrogyri... OMIM:617751
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, Abnormal cerebral white matter mo... ORPHA:275864
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Chorea, Babinski sign, Intention tremor, Athetosis, Choreoathetosis OMIM:130950
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Respiratory distress, Episodic tachypnea, Pneumonia, Small for gestational age, Tachy... ORPHA:26793
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Thrombocytopenia, Myoclonus, Intention tremor OMIM:254900
Retinal Dystrophy With Leukodystrophy
Bilateral ptosis, Waddling gait, Falls, Dysmetria, Truncal titubation, Prominent ear helix, Progr... OMIM:618863
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Macrotia, Gait disturbance, Poor coordination, Ataxia, Abnormality of pain sensation, Rec... ORPHA:544254
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Dystonia 24
Head tremor, Torticollis, Blepharospasm OMIM:615034
Yellow Fever
Malignant hyperthermia, Hypothermia, Cardiorespiratory arrest, Fever ORPHA:99829
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Mental Retardation, Autosomal Dominant 34
Upslanted palpebral fissure, Epicanthus, Synophrys, Hearing impairment, Stereotypy, Secondary mic... OMIM:616351
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness OMIM:254950
Multicentric Reticulohistiocytosis
Fever, Cachexia ORPHA:139436
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Gait ataxia, Progressive cerebellar ataxia, Intention tremor, Frequent falls, Optic atrophy, Feve... ORPHA:466794
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Babinski sign, Tetraplegia, Foot dorsiflexor ... OMIM:616586
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Di... OMIM:619279
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Leukoencephalopathy, Rigidity OMIM:603472
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Tremor, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Abnormal... ORPHA:765
Mental Retardation, Autosomal Recessive 41
Downslanted palpebral fissures, Stereotypy OMIM:615637
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system p... OMIM:105210
Snijders Blok-Campeau Syndrome
Speech apraxia, Epicanthus, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Radio-Tartaglia Syndrome
Narrow palpebral fissure, Downslanted palpebral fissures, Obesity, Upslanted palpebral fissure, A... OMIM:619312
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Alexander Disease
Tremor, Chorea, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Ataxia, Fa... ORPHA:58
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Spastic diplegia, Congenital fibrosis of extraocular muscles, To... ORPHA:300570
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Congenital Enterovirus Infection
Pleural effusion, Hypothermia, Respiratory distress, Fever ORPHA:292
Proximal 16P11.2 Microduplication Syndrome
Tremor, Decreased body mass index, Sparse eyebrow, Sparse eyelashes, Microtia, Failure to thrive,... ORPHA:370079
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Failure to thrive, Hypothermia, Fever, Hyperventil... ORPHA:255210
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Obesity, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling ga... ORPHA:3077
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Gait ataxia, Limb ataxia, Abnormal autonomic nervous system physiology, Ataxia OMIM:614575
Cdkl5-Deficiency Disorder
Difficulty walking, Gait disturbance, Synophrys, Impaired pain sensation, Stereotypical hand wrin... ORPHA:505652
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Fever, Dyspnea, Hyperventilation OMIM:229700
Ciliary Dyskinesia, Primary, 29
Infertility, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide OMIM:615872
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Tremor, Prelingua... ORPHA:52368
Ciliary Dyskinesia, Primary, 41
Infertility, Impaired nasal mucociliary clearance, Bronchiectasis, Immotile sperm, Recurrent sinu... OMIM:618449
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Chorea, Eyelid myoclonus, Hypoplasia of the corpu... ORPHA:178469
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Upslanted palpebral fissure, Epicanthus, Stereotypy, Impaired pain sensation, Microc... OMIM:616579
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Malignant hyperthermia, Torticollis, Arthrogryposis multiplex congenita OMIM:217150
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Xeroderma Pigmentosum, Complementation Group F
Tremor, Decreased body weight, Ataxia, Hearing impairment, Microcephaly OMIM:278760
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Crigler-Najjar Syndrome Type 1
Oculomotor nerve palsy, Tremor ORPHA:79234
Coffin-Siris Syndrome 6
Tics, Low-set, posteriorly rotated ears, Conductive hearing impairment, Narrow palpebral fissure,... OMIM:617808
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time, Abnormal alpha granule content, Abnormal ... OMIM:601399
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Eyelid myoclonus... ORPHA:208447
Trisomy X
Upslanted palpebral fissure, Tremor, Epicanthus, Attention deficit hyperactivity disorder ORPHA:3375
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Resting tremor, Parkinsoni... OMIM:616840
Ciliary Dyskinesia, Primary, 32
Infertility, Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia OMIM:616481
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Familial Thyroid Dyshormonogenesis
Hypothermia, Umbilical hernia ORPHA:95716
Spinocerebellar Ataxia Type 18
Muscle weakness, Gait ataxia, Head tremor, Titubation, Dysmetria ORPHA:98771
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy... ORPHA:83629
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gait disturbance, Hyperkinetic movements, Abnormal cerebral white matter morphology, Trun... OMIM:300957