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Gene: Abca2 MGI:99606

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Gene Summary

Name:
ATP-binding cassette, sub-family A member 2
Synonyms:
D2H0S1474E,  Abc2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased exploration in new environment Abca2em1(IMPC)J HOM Early adult 1.20×10-05
decreased grip strength Abca2em1(IMPC)J HOM Early adult 1.48×10-05
increased circulating phosphate level Abca2em1(IMPC)J HOM Early adult 2.99×10-06
hyperactivity Abca2em1(IMPC)J HOM Early adult 2.34×10-12

Download data as:  TSV  XLS

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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 Lateral Orientation

3 Images

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X-ray

XRay Images Forepaw

3 Images

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Electroretinography 3

Fundus file

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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X-ray

XRay Images Skull Lateral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Abca2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Abca2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Incoordination, Aggressive behavior OMIM:618808

The table below shows human diseases predicted to be associated to Abca2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... ORPHA:401901
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, 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
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Schizophrenia 15
Hyperactivity OMIM:613950
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia OMIM:620270
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili... ORPHA:66624
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Brunner Syndrome
Kinetic tremor, Impulsivity, Aggressive behavior, Self-injurious behavior, Low frustration tolerance OMIM:300615
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... OMIM:615924
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... OMIM:128235
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... ORPHA:251282
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... OMIM:616269
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, In... OMIM:302500
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Lower limb spasticity, Parkinsonism, Anorexia, A... ORPHA:3077
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Depression, Limb... ORPHA:71517
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... ORPHA:101109
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinemia, Cognitive impairment OMIM:238700
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cereb... ORPHA:314978
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... OMIM:615362
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dysphagia, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dystonia OMIM:261630
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... ORPHA:248111
Spinocerebellar Ataxia Type 12
Ataxia, Postural tremor, Parkinsonism, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Autoimmune Hypoparathyroidism
Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoca... ORPHA:36913
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Dysphagia, Inte... OMIM:620221
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Hartnup Disorder
Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional l... OMIM:234500
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... ORPHA:98764
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Depression, Irritability, Dystonia, Action tremor OMIM:606438
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... OMIM:619738
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism... OMIM:616710
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... OMIM:613135
Spinocerebellar Ataxia Type 35
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... ORPHA:276193
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali... ORPHA:382
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... OMIM:616795
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Obsessive-... OMIM:617665
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Dysphagia, Choreoathetosis, Br... OMIM:261640
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation OMIM:617916
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Lichtenstein-Knorr Syndrome
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Spastic paraplegia, Babinsk... ORPHA:100988
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Motor tics OMIM:615483
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig... OMIM:137440
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Spinocerebellar Ataxia 19
Postural tremor, Truncal ataxia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebel... OMIM:607346
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Spinocerebellar Ataxia 17
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Limb ata... OMIM:607136
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Atypical Rett Syndrome
Restrictive behavior, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, ... ORPHA:3095
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ... ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... ORPHA:284324
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia OMIM:612126
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia OMIM:605909
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... ORPHA:240085
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Irritability, Hypertonia, Sp... OMIM:616881
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Oromandibular dystonia, Scissor gait, Ankle clonus, Bradykin... ORPHA:521406
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cognitive impairment OMIM:612462
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Dystonia, Ataxia, Incoordination, Aggressive behavior, Tremor, Paraparesis, Gait ... OMIM:615157
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:618598
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... ORPHA:206443
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Dysphagia, Choreoathetosis, Irritability, Hyperkinetic movements, Dystonia, Lim... OMIM:233910
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Limb myoclonus, Truncal ataxia, Limb ataxia, Dysmetria, Hand tremor, Tongu... ORPHA:276198
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Aggressive behavior ORPHA:208441
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, Myoclonus, Dysto... OMIM:606703
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hy... OMIM:617435
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Depression, Inappropriate be... OMIM:168605
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Falls,... OMIM:300423
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Clumsiness, Eye... ORPHA:2590
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Spasticity OMIM:609260
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... OMIM:618718
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment, Dysphagia OMIM:607734
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... OMIM:210000
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... ORPHA:391417
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory impairment, Hand tr... OMIM:302800
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, ... OMIM:614298
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotional lability, Spasticity ORPHA:542310
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My... ORPHA:254881
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder, Failure ... OMIM:619556
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Babinski sign... ORPHA:93952
Pseudohypoparathyroidism Type 1B
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94089
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Manganese Poisoning
Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, ... ORPHA:306682
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking, Dysphagia... OMIM:159950
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Aggressive behavior, Impulsivity, Parkinsonism, Limb ataxia, G... OMIM:607454
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... ORPHA:442835
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior OMIM:239500
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, ... OMIM:607483
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... ORPHA:94093
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypertonia, Spasticity ORPHA:33445
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Perry Syndrome
Parkinsonism, Tremor, Depression, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Pseudohypoparathyroidism Type 1C
Calcinosis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te... ORPHA:79444
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Postural tremor, Parkinsonism, Rigidity, Unsteady gait, Bab... OMIM:183090
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation OMIM:615010
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... OMIM:619279
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spastic t... ORPHA:352649
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... OMIM:608643
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability ORPHA:428
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Irritability, Hyper... OMIM:617864
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... ORPHA:137898
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Head titubation, Rigidity, Gait ataxia, Choreo... OMIM:618877
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... OMIM:312080
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a... OMIM:208920
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... ORPHA:227510
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Dent Disease 2
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia OMIM:300555
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
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat... OMIM:619574
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Depression, Abnormal ves... OMIM:193003
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Tetraplegia, Pseu... OMIM:616586
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Abnormal repetiti... OMIM:619092
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Trisomy X
Tremor, Attention deficit hyperactivity disorder, Depression ORPHA:3375
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Dysphagia, Self-mutilation OMIM:619422
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Impaired p... ORPHA:352641
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Abnormality of pai... ORPHA:544254
Stiff Person Spectrum Disorder
Exaggerated startle response, Rigidity, Falls, Difficulty walking, Emotional lability ORPHA:3198
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Developmental And Epileptic Encephalopathy 46
Tremor, Limb hypertonia, Failure to thrive, Dysphagia OMIM:617162
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... ORPHA:363400
4H Leukodystrophy
Dystonia, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of ... ORPHA:289494
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... ORPHA:280219
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive OMIM:618201
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
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... ORPHA:36387
Pseudohypoparathyroidism Type 1A
Calcinosis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te... ORPHA:79443
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... ORPHA:98818
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Myoclonus, Dysphagia ORPHA:97229
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... ORPHA:157846
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Abnormality of ext... ORPHA:320406
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Akinesia, Involuntary movements, Rigidity, Babinski sign, Abno... ORPHA:97349
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal... ORPHA:64753
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Depression, Truncal obesity, Hyperk... OMIM:300957
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic pa... OMIM:300894
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... ORPHA:206594
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Classic Phenylketonuria
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv... ORPHA:79254
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, ... ORPHA:683
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Dystonia, Sh... OMIM:168600
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia... OMIM:610217
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait, ... OMIM:616505
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... OMIM:615516
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia OMIM:312170
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Resting tremor, Lower limb spasticity, Hoffmann sign, Babinski sign... OMIM:601162
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Dysphagia OMIM:619473
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Weight loss, Bradykinesi... ORPHA:411602
Spinocerebellar Ataxia Type 42
Resting tremor, Upper limb postural tremor, Unsteady gait, Babinski sign, Gait ataxia, Depression... ORPHA:458803
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, ... ORPHA:457240
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Dysphagia OMIM:313200
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykine... ORPHA:225147
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Linear Verrucous Nevus Syndrome
Mental deterioration, Hypophosphatemia ORPHA:2611
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... OMIM:615530
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrap... OMIM:615673
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... OMIM:614381
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Abnormal ... OMIM:606002
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
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Incoordination, Tremor, Inability to walk, Dysmetria, Clu... ORPHA:845
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shu... OMIM:168601
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, De... OMIM:618342
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
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emotion, Attentio... ORPHA:1942
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Tremor, Gait ataxia, Abdominal obesity, Emotional lability OMIM:300354
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Agitation, Increased body weight ORPHA:276608
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dystonia, Dysphagia OMIM:304700
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Dysphagia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus OMIM:609541
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Hypergonadotropic hypogonadism, Tremor, Hypoesthesia, Obesity, Prim... OMIM:619737
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Proximal 16P11.2 Microduplication Syndrome
Tremor, Attention deficit hyperactivity disorder, Compulsive behaviors, Failure to thrive, Decrea... ORPHA:370079
Hemorrhagic Fever-Renal Syndrome
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation ORPHA:340
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Exercise-Induced Malignant Hyperthermia
Confusion, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, H... ORPHA:466650
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Depression,... OMIM:617675
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Nipah Virus Disease
Tremor, Myoclonus, Anorexia ORPHA:99825
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Cystinosis
Hypokalemia, Polydipsia, Abnormal repetitive mannerisms, Hypophosphatemia ORPHA:213
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Dysphagia OMIM:619790
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Gait imbalance... ORPHA:2828
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Confu... ORPHA:247585
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Developmental And Epileptic Encephalopathy 4
Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia OMIM:612164
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Dysphagia, Focal dystonia, Clumsiness, Parkinsonism with favora... ORPHA:199351
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention defici... OMIM:619680
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Irritability, Emotional lability, Failure to thrive OMIM:201100
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight OMIM:278760
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression OMIM:600740
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Depression, Myoclonic spasms, Frequent falls OMIM:184850
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... OMIM:617988
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Chorea, ... ORPHA:2131
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... ORPHA:447753
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... OMIM:105210
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Incoordination, Aggressive behavior OMIM:618808
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... ORPHA:2388
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... ORPHA:72
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis OMIM:617186
Hyperparathyroidism, Neonatal Severe
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia OMIM:239200
Insulinoma
Tremor, Increased body weight, Paresthesia, Abnormality of pain sensation, Polyphagia ORPHA:97279
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... ORPHA:449291
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation, Fasciculations, Spasticity,... OMIM:268800
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, ... OMIM:617281
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Tremor, Depression, Fasciculations, Difficulty walking, Frequent falls ORPHA:329478
Hyperlysinemia
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... ORPHA:2203
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Ataxia, Depression ORPHA:79095
Typhoid
Tremor, Hypertonia, Ataxia ORPHA:99745
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia ORPHA:163985
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dy... ORPHA:25
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Cognitive impairment, Hypophosphatemia, Polydipsia ORPHA:411629
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Irritability, Hyperkinetic movements, Emotional lability, Polydipsia, Fail... ORPHA:525731
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... ORPHA:476126
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdia... ORPHA:502423
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... OMIM:610042
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Agitation, Myoclonus ORPHA:43116
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, Self-injurious ... ORPHA:58
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Dysphagia, Intention tremor OMIM:254900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low frustration tolerance, Comp... ORPHA:646
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... OMIM:615356
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles ORPHA:3299
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Myoclonus, Dysphagia, Loss of ambulation, Right hemiplegia OMIM:607426
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Di... ORPHA:572798
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Supranuclear Palsy, Progressive, 1
Limb dystonia, Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... OMIM:601104
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Dysphagia ORPHA:397744
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Wolfram Syndrome 1
Tremor, Ataxia, Dysphagia OMIM:222300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Babinski sign, Abnormal pyramidal sign, Hypertonia, Abnor... OMIM:617527
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... ORPHA:99956
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Progressive spastic quadriplegia, Abnormality of extrapyr... ORPHA:521426
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Asparagine Synthetase Deficiency
Exaggerated startle response, Clonus, Tremor, Spastic tetraplegia, Irritability, Hypertonia, Fail... OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Hypertonia, Clonus, Dysphagia OMIM:617301
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Fasciculations, Limb hypertonia OMIM:620327
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Tremor, Spastic diplegia, Tetraparesis, Failure to thrive OMIM:613179
Kallmann Syndrome
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Obesity, Paraplegia, ... ORPHA:478
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia ORPHA:1578
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Cystinosis, Nephropathic
Hyponatremia, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Hypomagnesemia, Re... OMIM:219800
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Babinski si... ORPHA:466768
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesity OMIM:614947
Sandhoff Disease, Infantile Form
Exaggerated startle response, Myoclonus, Spasticity ORPHA:309155
Early Infantile Epileptic Encephalopathy
Hyperactivity, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, Dystonia, Episodic at... ORPHA:1934
Dent Disease 1
Hypophosphatemia OMIM:300009
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Depression, Hypophosphatemia, Self-injurious behavior, Hypokalemia, ... ORPHA:534
Tay-Sachs Disease
Exaggerated startle response, Hypertonia OMIM:272800
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia OMIM:207800
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Opsismodysplasia
Hypophosphatemia OMIM:258480
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Tongue fasciculations OMIM:608800
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Pearson Syndrome
Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Oculopharyngodistal Myopathy 1
Ataxia, Tremor, Weight loss, Difficulty walking, Dysphagia OMIM:164310
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Irritability, Hypertonia, Dysphagia, Spasticity OMIM:618367
Raine Syndrome
Hypophosphatemia OMIM:259775
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Abnormality of extrapyramidal motor function, Decerebrate rigidity,... ORPHA:79255
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Ag... ORPHA:3385
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Dysphagia, Hypertonia, Dystonia, Failure to thrive OMIM:617248
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Dystonia, Involuntary movements, Inability to wal... ORPHA:438213
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522

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 Abca2

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 Abca2.

No publications found that use IMPC mice or data for Abca2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Abca2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Abca2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abca2em1(IMPC)J Exon Deletion Mice

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