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Gene: Mir34a MGI:3619363

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Gene Summary

Name:
microRNA 34a
Synonyms:
mmu-mir-34a,  mir 34a,  Mirn34a

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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.

DSS Histology

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8 Images

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Anti-nuclear antibody assay

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1 Images

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Ear epidermis immunophenotyping

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3 Images

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Human diseases caused by Mir34a 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 Mir34a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Sudden episodic apnea, Episodic tachypnea, Involuntary movements,... ORPHA:3095
Sandhoff Disease, Adult Form
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Inability to walk, Fatiguabl... ORPHA:90117
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Parkinsonism, Tremor, Rigidity, Respiratory i... OMIM:168605
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia, Tremor OMIM:619099
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... ORPHA:363710
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... OMIM:616269
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking OMIM:615048
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Tremor, Clums... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, P... ORPHA:240085
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... OMIM:615924
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... OMIM:302500
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia OMIM:128235
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... ORPHA:251282
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Inability to walk, Restrictive ventilatory defect, Gait disturbance, Difficulty walking, ... ORPHA:101077
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal py... ORPHA:240103
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... ORPHA:521406
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... ORPHA:454887
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Dysphagia, Up... ORPHA:276435
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Falls,... OMIM:300423
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia, Dysphagia OMIM:618637
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dyst... ORPHA:53351
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Pneumothorax, Hypertonia, Hy... OMIM:619738
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Bronchiectasis, Increased B cell count OMIM:618982
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea, Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Par... OMIM:615157
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favora... OMIM:616710
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoathetosis, Gai... ORPHA:765
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hy... OMIM:617435
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D... ORPHA:98764
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation OMIM:617916
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Respiratory insufficiency due to muscle weakness, Tremor, Tongue fasciculations, Difficulty walki... OMIM:159950
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait OMIM:600363
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity OMIM:618201
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:618598
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Dystonia, Crackles... OMIM:610978
High Altitude Pulmonary Edema
Orthopnea, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia OMIM:615010
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... OMIM:615559
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait OMIM:618387
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... OMIM:618718
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Apnea, Ataxia, Parkinsonism, Tremor, Babinski sign, Spast... OMIM:300055
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Apnea, Oculogyric crisis, Tongue thrusting, Babinski s... OMIM:608643
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... ORPHA:36238
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Glutathionuria
Tremor, Asthma, Dysdiadochokinesis, Action tremor OMIM:231950
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyperton... OMIM:618056
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... ORPHA:391417
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Dysphagia,... OMIM:616795
Hyperekplexia 1
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Aspiration, Frequent falls OMIM:149400
Hyperekplexia 3
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Respiratory arrest OMIM:614618
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di... OMIM:302800
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Oculomotor apraxia, Neonatal breathing dysr... OMIM:611560
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Abnormal pattern of respiration, Gait disturbance ORPHA:29822
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... ORPHA:227510
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Res... ORPHA:363400
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Citrullinemia Type I
Torticollis, Ataxia, Tachypnea, Slurred speech, Ankle clonus, Spasticity ORPHA:247525
Nipah Virus Disease
Respiratory distress, Anorexia, Tremor, Myoclonus, Cough ORPHA:99825
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Respiratory failure, Gait disturbance, Lo... OMIM:615838
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Tongue fasc... OMIM:608800
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharos... ORPHA:683
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure, Dysphagia OMIM:618233
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine motor coo... ORPHA:79264
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dysp... OMIM:261640
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... ORPHA:206443
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus OMIM:609541
Tetanus
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Dysphagia, Spasticit... ORPHA:3299
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory failure, Abnormal... OMIM:614299
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Gait disturbance ORPHA:99014
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function, Central hypoventilation ORPHA:178509
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... OMIM:312080
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Steppage gait, Hypert... OMIM:616505
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Vocal ... OMIM:211530
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Impaired tandem gait, Ga... OMIM:300623
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... ORPHA:442835
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Clumsiness, Poor fine motor... ORPHA:137898
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesi... OMIM:607483
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... OMIM:312170
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... OMIM:183090
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio... OMIM:607694
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Chorea, Clumsiness, Choreoathe... OMIM:615673
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance OMIM:118300
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Ataxia, Gait disturbance OMIM:603472
Subacute Inflammatory Demyelinating Polyneuropathy
Tremor, Leukocytosis, Choreoathetosis, Steppage gait, Gait disturbance, Difficulty walking, Frequ... ORPHA:206594
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
4H Leukodystrophy
Dystonia, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of ... ORPHA:289494
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... OMIM:615530
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Hypertonia, Spasticity OMIM:616881
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Frequent falls, Tremor, Inability to walk... ORPHA:845
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder OMIM:619556
Riboflavin Transporter Deficiency
Ataxia, Aggressive behavior, Tremor, Respiratory insufficiency, Myoclonus, Dysphagia ORPHA:97229
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Anorexia, Tachypnea, Thrombocytopenia ORPHA:79242
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Stridor, Impaired tandem gait, Fasciculations, Dysphagia, Vocal cord p... OMIM:619574
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxia, Truncal ataxia, L... OMIM:208920
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Recurrent hand fla... ORPHA:544254
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Recurrent sinusitis, Increased B cell count ORPHA:98813
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa... OMIM:300894
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Abnormal repetitive mannerisms OMIM:619092
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... ORPHA:101
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Propionic Acidemia
Pancytopenia, Apnea, Thrombocytopenia, Tachypnea, Neutropenia, Dystonia, Anemia, Limb hypertonia OMIM:606054
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Abnormality of extrapyramidal motor function, Difficulty walking, P... ORPHA:320406
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Myoclonus OMIM:300673
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... OMIM:137440
Tay-Sachs Disease
Aspiration, Exaggerated startle response, Hypertonia OMIM:272800
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Beta-Ketothiolase Deficiency
Ataxia, Thrombocytosis, Anorexia, Leukocytosis, Tachypnea, Agitation, Extrapyramidal dyskinesia, ... ORPHA:134
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Postpoliomyelitis Syndrome
Hypoventilation, Fasciculations, Respiratory insufficiency, Dysphagia ORPHA:2942
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... OMIM:614298
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria OMIM:615578
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Spasticity, Lymphopenia ORPHA:100
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe... OMIM:617710
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea, Polyphagia OMIM:620085
Joubert Syndrome
Apnea, Episodic tachypnea, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia, Abnormal pattern... ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Reduced forced vital capacity, Restrictive ventilatory defect, Tip-toe gait, Noctu... OMIM:607155
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait,... OMIM:168601
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Tachypnea, Hypertonia, Agitation, Myoclonus ORPHA:43116
Joubert Syndrome 3
Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathing dysregulation OMIM:608629
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Hypertonia, Spasticity OMIM:617864
Typhoid
Ataxia, Epistaxis, Tremor, Splenomegaly, Hypertonia, Cough ORPHA:99745
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Difficulty walking, Nocturnal hypoventilation, Frequ... OMIM:603689
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia, Short stepped ... OMIM:168600
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Respiratory ... ORPHA:98915
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... OMIM:616586
Muscular Dystrophy, Duchenne Type
Waddling gait, Hypoventilation, Respiratory insufficiency due to muscle weakness, Restrictive ven... OMIM:310200
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... OMIM:614381
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Dystonia, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoathetosi... OMIM:616271
Triosephosphate Isomerase Deficiency
Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory insuffi... OMIM:615512
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia ORPHA:3124
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia, Dysphagia OMIM:617301
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Limb hypertonia OMIM:620327
Ataxia-Telangiectasia
Sinusitis, Ataxia, Tremor, Inability to walk, Slurred speech, Bronchiectasis, Choreoathetosis, Pr... OMIM:208900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Gait... ORPHA:98794
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia ORPHA:163985
Joubert Syndrome 9
Oculomotor apraxia, Apnea, Episodic tachypnea OMIM:612285
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Dysphagia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Stridor, Fatigable weakness, Dysphagia OMIM:617143
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Abnormal repetitive mann... ORPHA:457240
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Anemia OMIM:184850
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Adult-Onset Distal Myopathy Due To Vcp Mutation
Reduced vital capacity, Parkinsonism, Tremor, Fasciculations, Difficulty walking, Frequent falls ORPHA:329478
Amish Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Tremor ORPHA:98902
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Diaphragmatic paralysis, Respiratory failure, Inspiratory stridor, Ventilator dependen... OMIM:604320
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell aplasia, Autoimmune thro... OMIM:613179
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... ORPHA:99027
Aceruloplasminemia
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... ORPHA:48818
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Dysphagia OMIM:313200
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Alternating Hemiplegia Of Childhood
Respiratory distress, Dystonia, Apnea, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive be... ORPHA:2131
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor, Respiratory insufficiency OMIM:605355
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Mercury Poisoning
Respiratory distress, Anorexia, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, D... ORPHA:330021
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Myoclonus, Dysph... OMIM:254900
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Classic Phenylketonuria
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder... ORPHA:79254
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Apnea, Anorexia, Spastic hemiparesis, Leukocytosis, Tachypnea, Leukopenia, Myoclonus, Thr... ORPHA:20
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Normochromic anemia, Neutropenia, Pulmonary arterial hypertension, Thrombocytopenia OMIM:614857
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... OMIM:618278
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Dystonia, ... ORPHA:2828
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compuls... ORPHA:646
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor ORPHA:713
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetraparesis OMIM:617186
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Inability to walk, Respiratory insufficiency, Gait ataxia, Tongue fasciculations... ORPHA:99949
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Aggressive behavior, Tremor, Respiratory insufficiency, Hypertonia OMIM:608093
Cap Myopathy
Fatiguable weakness of proximal limb muscles, Frequent falls, Tip-toe gait, Central hypoventilation ORPHA:171881
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Sandhoff Disease
Exaggerated startle response, Ataxia, Hepatosplenomegaly, Fasciculations, Spasticity, Upper motor... OMIM:268800
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Tremor, Inability to walk, Vocal cord paralysis, Respiratory insufficienc... ORPHA:99956
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Apnea, Rigidity, Babinski sign, Abnormal pyramidal sign, Respirator... OMIM:617527
Anterior Cutaneous Nerve Entrapment Syndrome
Leukocytosis, Allodynia, Anorexia ORPHA:51890
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Episodic tachypnea ORPHA:2872
Joubert Syndrome With Renal Defect
Apnea, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia, Abnormal pattern of respiration ORPHA:220497
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Apnea, Rigidity, Respiratory insufficiency, Progressive spastic qua... ORPHA:521426
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Pyruvate Carboxylase Deficiency
Dystonia, Ataxia, Anorexia, Tremor, Tachypnea, Abnormal pyramidal sign, Tip-toe gait, Compulsive ... ORPHA:3008
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Abnormal den... OMIM:214500
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, ... OMIM:617281
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Fasciculations ORPHA:99965
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia ORPHA:100024
Sandhoff Disease, Infantile Form
Exaggerated startle response, Myoclonus, Spasticity, Hepatosplenomegaly ORPHA:309155
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Dysdiadochokinesis, Difficulty walking... OMIM:617675
Holocarboxylase Synthetase Deficiency
Hypertonia, Tachypnea, Thrombocytopenia, Hyperventilation OMIM:253270
Japanese Encephalitis
Respiratory distress, Neutrophilia, Weakness due to upper motor neuron dysfunction, Anorexia, Par... ORPHA:79139
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Tremor, Myoclonus, Dysphagia, Loss of ambulation, Right hemiplegia, Anemia OMIM:607426
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ata... OMIM:606002
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Ataxia ORPHA:2318
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Recurrent pneumonia, Myoclonus, Asp... ORPHA:314655
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Complex Regional Pain Syndrome
Involuntary movements, Allodynia ORPHA:83452
Joubert Syndrome With Ocular Defect
Apnea, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia, Abnormal pattern of respiration ORPHA:220493
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Tachypnea, Spherocytosis, Hep... ORPHA:71275
Biotinidase Deficiency
Splenomegaly, Tachypnea, Apnea, Ataxia OMIM:253260
Joubert Syndrome 1
Central apnea, Hyperactivity, Hemifacial spasm, Ataxia, Episodic tachypnea, Aggressive behavior, ... OMIM:213300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... OMIM:615356
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea, Leukopenia, Thrombocytosis, Lymphopenia, Anemia OMIM:615934
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... OMIM:164310
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Speech apraxia, Clonus, Tachypnea, Abnormal pyramidal sign, Poor coordination, Spastic paraplegia... ORPHA:415
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Bethlem Myopathy
Waddling gait, Hypoventilation, Reduced maximal expiratory pressure, Gait disturbance, Difficulty... ORPHA:610
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Hyperlysinemia
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Recurrent ... ORPHA:2203
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Asparagine Synthetase Deficiency
Exaggerated startle response, Clonus, Tremor, Spastic tetraplegia, Respiratory insufficiency, Hyp... OMIM:615574
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Apnea, Clonus, Tremor, Neutropenia, Hypopnea, Respiratory failure, Hypertonia, Dysphagi... OMIM:617248
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Cocaine Intoxication
Respiratory distress, Involuntary movements, Tremor, Wheezing, Tachypnea, Pneumothorax, Agitation... ORPHA:90068
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... OMIM:601104
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Falls,... ORPHA:447753
Ethylene Glycol Poisoning
Ataxia, Tachypnea, Episodic respiratory distress, Slurred speech, Addictive alcohol use, Myoclonu... ORPHA:31826
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Epistaxis, Parkinsonism, Tremor, Inability t... ORPHA:167
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea, Ataxia, Tremor, Gait disturbance ORPHA:2754
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Dyspnea, Tachypnea, Polydipsia, Anemia OMIM:239200
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia,... OMIM:274150
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Abnormality of extrapyramidal motor function, D... ORPHA:79255
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Abscess, Tachypnea, Increased circulating myelocyte c... ORPHA:36234
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Respiratory arrest OMIM:614947
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Hypoventilation, Unsteady gait, Recurrent pneumonia OMIM:618493
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea OMIM:201475
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Tremor, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Dysphagia... OMIM:619482
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Listeriosis
Respiratory distress, Brain abscess, Liver abscess, Ataxia, Pneumonia, Abscess, Tremor, Abnormal ... ORPHA:533
Joubert Syndrome 5
Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Oculomotor apraxia, Neonatal brea... OMIM:610188
Joubert Syndrome 2
Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Neonatal breathing dysregulation OMIM:608091
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Hepatosplenomegaly, Dystonia, Thrombocytopenia ORPHA:79330
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea ORPHA:26793
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Inability to walk, Respiratory insufficiency, Dysphagia, Pulmonary arterial hype... ORPHA:258
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Scorpion Envenomation
Restlessness, Hemifacial spasm, Ataxia, Tremor, Tachypnea, Hyperkinetic movements, Myoclonus, Abn... ORPHA:466677
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Broad-based gait, Exaggerated startle response, Apnea, Involuntary movements, Dy... ORPHA:438213
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Respiratory insufficiency OMIM:253800
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Rigidity, Hypoventilation OMIM:620275
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea ORPHA:860
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Tachypnea, Oculomotor apraxia, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Arima Syndrome
Ataxia, Dyspnea, Tachypnea, Polydipsia, Anemia OMIM:243910
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Prader-Willi Syndrome
Hypoventilation, Poor gross motor coordination, Poor fine motor coordination, Self-injurious beha... OMIM:176270
Trigeminal Neuralgia
Allodynia ORPHA:221091
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis, Tracheomalacia OMIM:203700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Tremor, Tachypnea, Truncal ataxia, Dysmetria, Dysphagia, Spasticity OMIM:220111
Exercise-Induced Malignant Hyperthermia
Ataxia, Crackles, Tachypnea, Hypocapnia, Thrombocytopenia ORPHA:466650
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Hypertonia, Spasticity, Dysphagia OMIM:618367
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation OMIM:620155
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema, Anemia OMIM:613658
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Histiocytoid Cardiomyopathy
Hemiplegia, Tachypnea, Cough ORPHA:137675
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespiratory arrest, ... ORPHA:293987
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Anemia, Exertional dy... OMIM:233450
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia, Dysphagia OMIM:603041
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepa... ORPHA:731
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Benign Schwannoma
Allodynia ORPHA:252164
Truncus Arteriosus
Tachypnea, Hypoplasia of the thymus ORPHA:3384

Histopathology

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

There is no histopathology data for Mir34a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mir34a.

No publications found that use IMPC mice or data for Mir34a.

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MGI Allele Allele Type Produced
Mir34atm1(mirKO)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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