Gene Summary

Name:
ATP-binding cassette, sub-family A (ABC1), member 2
Synonyms:
D2H0S1474E,  Abc2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased exploration in new environment Abca2em1(IMPC)J HOM   Early adult 1.20×10-05
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
decreased grip strength Abca2em1(IMPC)J HOM Early adult 1.48×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

Electroretinography 3

Fundus file

4 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

Auditory Brain Stem Response

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

8 Images

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
Incoordination, Gait ataxia, 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
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Depression, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Inappropriate behavior, T... ORPHA:401901
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tr... OMIM:619491
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Impulsivity, Irritability, Emotional lability, Depression, Ab... ORPHA:216873
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... ORPHA:280397
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Depression, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality of extrapyr... OMIM:615362
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Dystonia... OMIM:606438
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor OMIM:141500
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Depression, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia ORPHA:94122
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... OMIM:604326
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Cachexia, Babinski sign, Parkinsonism, Anxiety, Chorea, Tremor, Ga... OMIM:618093
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Irritability, Hypocalcemic seizures OMIM:146200
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia, Irritability OMIM:239350
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor, Writer's cramp OMIM:159900
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... OMIM:128235
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity ORPHA:401849
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Chorea,... ORPHA:66624
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic ... ORPHA:251282
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations, Distal sensory impairment OMIM:615048
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... ORPHA:363710
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Myoclonus, Anxiety, Difficulty walking, Attention deficit hyperact... OMIM:619191
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics OMIM:615483
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia OMIM:300660
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Craniofacial dyston... ORPHA:71517
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Depression, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Writ... ORPHA:36899
Immunodeficiency 8
Hyperactivity OMIM:615401
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dyst... OMIM:615924
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Spinocerebellar Ataxia 35
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait, Self-biting OMIM:619988
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Spinocerebellar Ataxia Type 28
Limb ataxia, Depression, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait... ORPHA:101109
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... OMIM:610245
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Aggressive behavior, Oculomotor aprax... OMIM:612716
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Tremor, Kinetic tremor OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordination OMIM:603218
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Depression, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Ch... OMIM:213600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... ORPHA:3077
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor... OMIM:261640
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity, Small for gestational age OMIM:278780
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impulsivity, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Depression,... ORPHA:248111
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Depression, Myoclo... ORPHA:314632
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... ORPHA:306692
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Depression, Truncal ataxia, Gait disturbance, Tremor, Difficu... ORPHA:98764
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Anxiety, Tremor, Dystonia OMIM:619651
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... OMIM:617225
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity OMIM:210000
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia, Irritability OMIM:261630
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hypogonadism OMIM:312910
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... OMIM:600363
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... OMIM:619725
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Aggressive behavior, Torsion dystonia, Pa... ORPHA:98811
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Glutathionuria
Tremor OMIM:231950
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Brunner Syndrome
Self-injurious behavior, Impulsivity, Kinetic tremor, Aggressive behavior, Low frustration tolerance OMIM:300615
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Tremor, Aggressive behavior, Spasticity OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Action tremor, Poor coordination, Anxiety, Attention deficit hyperactiv... OMIM:617665
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia OMIM:614860
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait OMIM:618387
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Depression, Dysdiadochokinesis, Babinski si... OMIM:615157
Autoimmune Hypoparathyroidism
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Abnormal neuron morph... ORPHA:412066
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity OMIM:616494
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity OMIM:614947
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Spinocerebellar Ataxia 42
Ataxia, Impaired vibration sensation at ankles, Depression, Babinski sign, Abnormal pyramidal sig... OMIM:616795
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Self-injurious behavior, Abnormality of extrapyramidal motor function, Cho... ORPHA:382
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Inappropriate crying, Hand apraxia, Pill-rolling tremor, P... ORPHA:3095
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Gait disturbance, Spastic paraplegia, Postural tremo... ORPHA:100988
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Huntington Disease
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Weight loss, Depres... ORPHA:399
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Anxiety, Rigidity, Parkinsonism, Dystonia OMIM:605909
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradykinesia, Depression... ORPHA:240085
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Limb dystonia, P... ORPHA:210571
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... ORPHA:352641
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Anxiety, Chorea, Choreoathetosis, Involuntary movemen... OMIM:606703
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Depression, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor,... OMIM:137440
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Perry Syndrome
Akinesia, Apathy, Bradykinesia, Depression, Anxiety, Rigidity, Parkinsonism, Inappropriate behavi... OMIM:168605
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Dystonia, Irritability OMIM:612126
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... OMIM:609270
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Abnormality of extrapyramidal motor function, Tremor, Difficulty ... ORPHA:255
Spinocerebellar ataxia 27
Ataxia, Limb ataxia, Impaired vibratory sensation, Depression, Head tremor, Truncal ataxia, Gait ... OMIM:609307
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Poor gross motor coordination, Dysmetria, Clumsiness, D... ORPHA:228360
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:612462
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Tip-toe gait, Dysmetria, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Depression, Hemiparesis, Tremor, Spasticity OMIM:614307
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... ORPHA:101077
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Loss of ambulation, Ataxia, Upper motor neuron dysfunction, Clumsiness, Spastic parap... ORPHA:206443
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Akinesia, Ataxia, Parkinsonism with favorable response to dopaminergic m... OMIM:606693
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Hyperactivity, Self-injurious behavior, Tremor, Spasticity, ... OMIM:618718
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... OMIM:300623
X-Linked Dystonia-Parkinsonism
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... ORPHA:53351
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Ataxia, Inappropriate crying, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Ab... ORPHA:352649
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation ORPHA:99014
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Abnormal pyramidal sign, An... ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia, Irritability OMIM:233910
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Babinski sign, Distal sensory impairment, Tremor, Spasticity, Steppage gait OMIM:609260
Perry Syndrome
Apathy, Depression, Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Distal sensory impairment, Tremor, Somatic sensory dysfun... ORPHA:90117
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Clumsiness, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... ORPHA:2590
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Apathy, Limb ataxia, Impulsivity, Intention trem... OMIM:607454
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Myopathy, Spheroid Body
Broad-based gait, Tremor, Waddling gait OMIM:182920
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Action tremor, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Gai... ORPHA:93952
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Myoclonus OMIM:613608
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... ORPHA:3198
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Trisomy X
Depression, Tremor, Anxiety, Attention deficit hyperactivity disorder ORPHA:3375
Manganese Poisoning
Hypertonia, Akinesia, Bradykinesia, Impairment in personality functioning, Depression, Abnormalit... ORPHA:306682
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... OMIM:614831
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Loss of ambulation, Ataxia, Impulsivity, Depression, Babinski sign, Parki... OMIM:614298
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Depression, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia ORPHA:306669
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Multiple System Atrophy, Parkinsonian Type
Apathy, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Depression, ... ORPHA:98933
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Upper limb postural tremor, Gait ataxia, Distal sensory impairment OMIM:180800
Spinocerebellar Ataxia Type 36
Ataxia, Dysmetria, Limb ataxia, Hand tremor, Intention tremor, Babinski sign, Truncal ataxia, Hea... ORPHA:276198
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking ORPHA:477673
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait disturbance, Fa... OMIM:604484
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Apathy, Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxi... ORPHA:227510
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Spinocerebellar Ataxia Type 10
Gait imbalance, Apathy, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Depression, D... ORPHA:98761
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait OMIM:619405
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Aggressive behavior OMIM:239500
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity ORPHA:33445
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Degeneration of anterior horn cells, Tongue fasciculations, Frequent falls, Tremor, Di... OMIM:159950
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Ataxia, Inability to walk, Failure to thrive, Tremor, Attention deficit hyperactivity... OMIM:619556
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Impulsivity, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficulty ... ORPHA:442835
Monomelic Amyotrophy
Tremor, Fasciculations, Degeneration of anterior horn cells ORPHA:65684
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis ORPHA:391417
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Tip-toe gait, Dysmetria, Hand tremor, Babinski sign, Distal sensory impairment, Gait... OMIM:302800
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, A... OMIM:261600
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Pelizaeus-Merzbacher Disease
Broad-based gait, Failure to thrive, Ataxia, Inability to walk, Apathy, Intention tremor, Depress... OMIM:312080
Gabriele-De Vries Syndrome
Tremor, Dystonia, Waddling gait OMIM:617557
Neuronal Intranuclear Inclusion Disease
Ataxia, Rigidity, Gait disturbance, Tremor, Somatic sensory dysfunction OMIM:603472
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Postural tremor OMIM:254900
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Myoclonus, Panic attack, Head tremor, Craniofacial dystonia, Writer'... ORPHA:420492
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... ORPHA:137898
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Cognitive impairment OMIM:300555
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Loss of ambulation, Ataxia, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremo... OMIM:208920
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Action tremor, Limb a... ORPHA:101
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Tremor, Dysdiadochokinesis, Truncal ataxia, Dysmetria OMIM:610185
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Inability to walk, Clumsiness, Lower limb hypertonia, Tip-toe gait, Opist... OMIM:617013
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Depres... OMIM:612953
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... ORPHA:96
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Anxiety, Hyperphosphatemia, Emotional lability ORPHA:428
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Inability to walk, Truncal titubation, Action tremor, Opisthotonus, Babi... OMIM:607483
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Cognitive impairment ORPHA:457059
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Impai... OMIM:183090
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Oculogy... OMIM:608643
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia OMIM:614867
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Borderline personality disorder, Tremor, Oculomo... OMIM:618060
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Anxiety, Tremor, Incoordination ORPHA:36387
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Depression, Anxiety, Hyperkinetic movements, Increased body mass index... OMIM:300957
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Clumsiness, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Pos... OMIM:619911
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anxiety, Hypern... ORPHA:94093
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia ORPHA:1170
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation OMIM:619092
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Athet... ORPHA:280219
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Depression, Ba... OMIM:128100
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait disturbance,... ORPHA:457240
Postencephalitic Parkinsonism
Happy demeanor, Akinesia, Bradykinesia, Resting tremor, Depression, Tremor by anatomical site, Oc... ORPHA:97349
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting OMIM:618314
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spa... ORPHA:363400
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Aggressive behavior, Dystonia ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Self-mutilation, Tremor, Choreoathetosis, Dystonia OMIM:619422
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalc... ORPHA:79444
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Loss of ambulation, Ataxia, Dysmetria, Babinski sign, Tremor, Spasticity, Postural tremor, Dystonia OMIM:607694
Subacute Inflammatory Demyelinating Polyneuropathy
Positive Romberg sign, Distal sensory impairment, Gait disturbance, Tremor, Difficulty walking, C... ORPHA:206594
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Apathy, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spa... OMIM:272750
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Progressive extrapyramidal muscular rigidity, Parkinsonism with favorab... ORPHA:240071
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Myoclonus, Tremor, Aggressive behavior ORPHA:97229
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Bradykinesia, Impaired vibration sensation in the lower limbs, Depression, B... ORPHA:98808
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Incoordination, Gait ataxia, Aggressive behavior OMIM:618808
Classic Phenylketonuria
Hemiplegia, Hypertonia, Self-injurious behavior, Depression, Tremor, Paraplegia, Attention defici... ORPHA:79254
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Polyminimyoclonus, Tremor, Impaired distal vibration sensation, Vocal cord paresis, Impaired pain... OMIM:619574
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
4H Leukodystrophy
Ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dystonia, Upper motor neu... ORPHA:289494
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Proximal 16P11.2 Microduplication Syndrome
Failure to thrive, Anxiety, Decreased body mass index, Tremor, Attention deficit hyperactivity di... ORPHA:370079
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking... ORPHA:320406
Neuroferritinopathy
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Emotional lability, Babinski sign, Par... ORPHA:157846
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Myoclonus, Spasticity, Clonus OMIM:618201
Multiple System Atrophy
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Autonomic erectile d... ORPHA:102
Saccharopinuria
Spastic diplegia, Gait ataxia, Distal sensory impairment, Tremor ORPHA:3124
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Inappropr... ORPHA:225147
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Hyperactivity, Recurrent hand flapping,... ORPHA:98794
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Myoclonus, Anxiety, Dystonia OMIM:616398
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Abnormality of pain... ORPHA:544254
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, Nail-biting, Attention de... OMIM:619827
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Distal sensory impairm... OMIM:616505
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Linear Verrucous Nevus Syndrome
Mental deterioration, Hypophosphatemia ORPHA:2611
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalc... ORPHA:79443
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral p... ORPHA:70594
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Difficulty walking, Gait ataxia, Spasticity, Oculomotor apraxia ORPHA:529665
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Decreased body weight, Hyperactivity, Tremor, Attention deficit hyperactivity d... OMIM:618342
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety, Trunc... OMIM:617675
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Hyperactivity, Bradykinesia, Dysmetria, Impulsivity, Intention tremor, Dysdiadochokin... OMIM:610217
Spinocerebellar Ataxia Type 42
Impaired vibration sensation at ankles, Resting tremor, Depression, Babinski sign, Head tremor, U... ORPHA:458803
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Gait disturbance, Tremor, Spastic paraplegia, Spasticity, ... OMIM:616586
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Inability to walk, Ankle clonus, Babinski sign, Abnormal pyramidal sign, ... ORPHA:52368
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Hyperactivity, Tremor, Gait ataxia, Aggressive behavior, Emotional lability OMIM:300354
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Ataxia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Abnormal pyramidal sign, Tremor, Attenti... ORPHA:1942
Tay-Sachs Disease
Inability to walk, Clumsiness, Laryngeal dystonia, Dysmetria, Exaggerated startle response, Poor ... ORPHA:845
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Self-injurious behavior, Anxiety, Elevated circulating gamma-aminobutyric acid con... OMIM:271980
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Impulsivity, Depression, Rigidity, Falls, Tremor, Unsteady gait, Dys... ORPHA:683
Hereditary Late-Onset Parkinson Disease
Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Apathy, ... ORPHA:411602
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Blepharospasm, Bradykinesia, Depression, Babinski sign, Abnormal... OMIM:234200
Young-Onset Parkinson Disease
Gait imbalance, Apathy, Bradykinesia, Impulsivity, Depression, Anxiety, Rigidity, Panic attack, T... ORPHA:2828
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Babinski sign, Abnormal pyramidal sign, Head tremor, Somatic sensory dysf... ORPHA:64753
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Attention defic... ORPHA:98818
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Depression, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped... OMIM:168600
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Hyperactivity, Chorea, Frequent falls, Tremor, Difficulty walking, Choreoathe... OMIM:615673
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Gait disturbance, Tremor, Spasticity ORPHA:100
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast... ORPHA:765
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Testicular atrophy, Decreased fertility OMIM:313200
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Hypoesthesia, Impaired vibratory sensation, Hypergonadotropic hypogonadism, Primary a... OMIM:619737
Aceruloplasminemia
Torticollis, Akinesia, Ataxia, Blepharospasm, Apathy, Limb ataxia, Parkinsonism, Rigidity, Chorea... ORPHA:48818
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait at... OMIM:614381
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnormality of extrapyramidal mo... OMIM:613280
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Recurrent hand flapping, Hemidystonia, Tremor, Speech apraxia, Atten... OMIM:619680
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Rigidity, Myoclonic... OMIM:184850
Oculopharyngodistal Myopathy 3
Tremor, Ataxia OMIM:619473
Sneddon Syndrome
Tremor, Hemiparesis, Chorea ORPHA:820
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Aggressiv... OMIM:617710
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Abnormal pyramidal sign, Head tremor, Chorea, Tremor, Impaired distal vibration sens... OMIM:606002
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor, Attention deficit hyperactivity disorder, ... ORPHA:10
Migraine, Familial Hemiplegic, 2
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia OMIM:602481
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Depression, Myoclonus, Parkinsonism, Rigidity, Gait disturbance, Sh... OMIM:168601
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Ankle clonus, Babinski sign, Spastic paraplegia OMIM:609541
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Babinski sign, Tremor, Impaired distal vibration sensation, Spasticity, Hypertonia, Actio... ORPHA:99027
Adult-Onset Distal Myopathy Due To Vcp Mutation
Depression, Anxiety, Parkinsonism, Frequent falls, Tremor, Difficulty walking, Fasciculations ORPHA:329478
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Hypocalcemia, Hyperphosphatemia ORPHA:280651
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Ataxia, Tremor, Emotional lability, Irritability OMIM:201100
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619467
Tonne-Kalscheuer Syndrome
Broad-based gait, Self-injurious behavior, Anxiety, Tremor, Spasticity, Aggressive behavior OMIM:300978
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight OMIM:278760
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Dysmetria, Tremor, Gait ataxia OMIM:618056
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dystonia OMIM:615530
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Sialidosis Type 2
Tremor, Ataxia ORPHA:87876
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Jaberi-Elahi Syndrome
Broad-based gait, Failure to thrive, Inability to walk, Dysmetria, Appendicular spasticity, Tremo... OMIM:617988
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Failure to thrive OMIM:220111
Choreoacanthocytosis
Laryngeal dystonia, Falls, Chorea, Limb dystonia, Emotional lability, Weight loss, Slurred speech... ORPHA:2388
Autosomal Dominant Spastic Paraplegia Type 9A
Impaired vibration sensation in the lower limbs, Babinski sign, Abnormal pyramidal sign, Falls, S... ORPHA:447753
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Anxiety, Dystonia ORPHA:438216
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Gait disturbance, Tremor, Spastic paraplegia ORPHA:83629
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Hyperactivity, Recurrent hand flappi... ORPHA:72
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Irritability, Hypocalcemic seizures OMIM:264700
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait OMIM:311510
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety, Tremor, Diffic... ORPHA:502423
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Hemiparesis, Tremor, Paraplegia, Spasticity OMIM:105210
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Dysmetria, Babinski sign, Spastic paraplegia, Tremor, Spasticity OMIM:618527
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Irritability, Hypocalcemic seizures OMIM:277440
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism, Spasticity, Limb dystonia OMIM:616840
Congenital Bile Acid Synthesis Defect Type 4
Depression, Tremor, Ataxia ORPHA:79095
Typhoid
Tremor, Ataxia, Hypertonia ORPHA:99745
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration OMIM:307800
Insulinoma
Anxiety, Tremor, Paresthesia, Increased body weight, Abnormality of pain sensation ORPHA:97279
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Alternating Hemiplegia Of Childhood
Failure to thrive, Ataxia, Impulsivity, Oculomotor apraxia, Abnormal pyramidal sign, Rigidity, Ch... ORPHA:2131
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Rigidity, Tetraparesis, Tremor, Irritability OMIM:617186
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Weight loss OMIM:613239
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Irritability, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Sialidosis Type 1
Ataxia, Myoclonus, Gait disturbance, Tremor, Slurred speech ORPHA:812
Sandhoff Disease
Ataxia, Exaggerated startle response, Spasticity, Fasciculations, Upper motor neuron dysfunction,... OMIM:268800
Sneddon Syndrome