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Gene: Araf MGI:88065

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Araf proto-oncogene, serine/threonine kinase
Synonyms:
Araf1,  1200013E08Rik,  A-Raf

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Araf mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... OMIM:619565
Striatonigral Degeneration, Infantile
Dysphagia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive OMIM:271930
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Gai... OMIM:248900
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extr... OMIM:615159
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis, Dysphagia OMIM:118800
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Ragged-red muscle fibers,... OMIM:500003
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Impaired distal vibration sen... ORPHA:276435
Sandhoff Disease, Adult Form
Dystonia, Tremor, Gait ataxia, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakne... ORPHA:309169
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Malabsorption, Irritability, Leukopenia, Athetosi... OMIM:229050
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dysphagia, Lo... OMIM:618088
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, ... ORPHA:225154
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... ORPHA:216873
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Dysphagia, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor ne... OMIM:500001
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis, Abnormali... ORPHA:382
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Motor tics OMIM:615483
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Involuntary movements, Parkinsonism, Depression OMIM:616413
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Developmental And Epileptic Encephalopathy 44
Irritability, Athetosis, Gastroesophageal reflux, Dystonia, Spasticity, Failure to thrive OMIM:617132
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Irr... OMIM:261640
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy OMIM:617018
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Ataxia, Involuntary movements, Limb joint contracture, Rigidity, Chorea, Babinski sign,... OMIM:617282
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Involuntary movements, Chorea, Self-injurious behavior, Athetosis, Hyperkinetic movemen... OMIM:617493
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Myoclonus, Dysphagia, Increased variability in muscle fiber diameter, Impaired... OMIM:617235
Choreoathetosis, Familial Inverted
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance OMIM:118750
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Flexion contracture, Choreoathetosis, High palate, Wrist flexion contracture, Ataxia, Par... OMIM:300055
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Fiber type grouping, Distal amyotrophy, Distal sensory impairment OMIM:614369
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Depression, Choreoat... ORPHA:13
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... ORPHA:251282
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... OMIM:128235
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoathetosis, Limb dystonia, Fr... OMIM:619054
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity OMIM:611105
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... ORPHA:401901
Leukodystrophy, Hypomyelinating, 21
Ataxia, Cryptorchidism, Athetosis, Tetraparesis, Dystonia, Failure to thrive OMIM:619310
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... OMIM:612126
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... OMIM:617519
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus OMIM:616230
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis, Dysphagia OMIM:300857
Hsd10 Disease
Ataxia, Tremor, Rigidity, Gastrointestinal dysmotility, Choreoathetosis, Gait disturbance, Myoclo... ORPHA:391417
Allan-Herndon-Dudley Syndrome
Ataxia, Clonus, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Flexio... OMIM:300523
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Irritability, Spasticity, Dystonia OMIM:614249
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic movements, Dysphagia, Lim... OMIM:233910
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia OMIM:104290
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia, High palate OMIM:309560
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... ORPHA:71277
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Involuntary movements, Babinski sign, Clumsiness, Athetosis, Distal amyotrophy, Dysphagia... OMIM:271245
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... OMIM:615048
Leukodystrophy, Hypomyelinating, 15
Dystonia, Ataxia, Abnormal pyramidal sign, Athetosis, Dysphagia, Loss of ambulation, Spasticity, ... OMIM:617951
Choreoacanthocytosis
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Dystoni... OMIM:200150
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Inability to walk, Choreoathetosis, Hyperkinetic movements, Gastroesophageal reflux, My... OMIM:618497
3-Methylglutaconic Aciduria, Type I
Ataxia, Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Failure to thrive, Self-mutilation OMIM:250950
Early-Onset X-Linked Optic Atrophy
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Emotional lability, Intention tr... ORPHA:98890
Autosomal Dominant Spastic Paraplegia Type 29
Impaired vibratory sensation, Clonus, Hiatus hernia, Babinski sign, Impaired proprioception, Abno... ORPHA:101009
Foxg1 Syndrome
Dystonia, Inability to walk, Choreoathetosis, Hyperkinetic movements, Gastroesophageal reflux, My... ORPHA:561854
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Irritability, Failure to thrive, Myoclonus OMIM:609056
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Chorea, Ileus, Athetosis, Hypertonia, Dys... ORPHA:52503
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Depression, G... OMIM:618093
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Spasticity OMIM:617065
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... OMIM:616981
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... OMIM:128100
Rapid-Onset Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Depression, Bradykinesia, ... ORPHA:71517
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Choreoathetosis, Athetosis, Chorea, Failure to thrive OMIM:309541
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... ORPHA:66624
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, S... OMIM:617964
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Developmental And Epileptic Encephalopathy 67
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia OMIM:618141
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Inability to walk, Irritability, Athetosis, Gait disturbance, Myoclonus, Loss of ambula... OMIM:618241
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Developmental And Epileptic Encephalopathy 17
Inability to walk, Athetosis, Chorea, Dystonia OMIM:615473
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Spastic tetraplegia, Self-injurious behavior, Athetosis, Dystonia OMIM:619922
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis OMIM:158580
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia OMIM:617106
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... OMIM:182980
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Spasticity OMIM:257800
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, High palate, Dysphagia, Self-mutilation OMIM:619422
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Ataxia, Dystonia OMIM:612951
Free Sialic Acid Storage Disease
Ataxia, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:834
Salla Disease
Ataxia, Inability to walk, Vacuolated lymphocytes, Athetosis, Spasticity OMIM:604369
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... OMIM:312080
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... ORPHA:280219
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia OMIM:620270
3-Methylglutaconic Aciduria, Type Ix
Clonus, Aggressive behavior, Choreoathetosis, Hypertonia, High palate, Spasticity, Failure to thrive OMIM:617698
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tet... OMIM:617710
Infantile Cerebellar-Retinal Degeneration
Athetosis, Failure to thrive, Ataxia, Decreased body weight OMIM:614559
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... OMIM:302500
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... OMIM:608643
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... OMIM:607317
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls OMIM:301020
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Small for gestational age, M... OMIM:612073
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dysphagia, Intrinsic hand muscle atrophy, Dystonia, Spasticity OMIM:304700
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, Elbow flexion contractu... ORPHA:85285
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spastic tetraplegia, Choreoathetosis, Aplasia of the left hemidiaphragm, Dystonia, Spasticity, Fa... OMIM:618238
Hereditary Methemoglobinemia
Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity,... ORPHA:621
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Dystonia, Weakness of facial m... OMIM:618416
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Inabilit... ORPHA:101077
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splenomegaly, Inabi... OMIM:257200
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykine... ORPHA:225147
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... OMIM:616269
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... OMIM:619317
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor, Gastrointestinal dysmotility, Dysphagia, Weakness of facial musculature OMIM:618637
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Ataxia, Small for gestational age, Failure to thrive in infancy, Cryptor... ORPHA:59
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Weight loss, Tip-toe g... ORPHA:216866
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal... ORPHA:64753
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscl... OMIM:619028
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... ORPHA:240085
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, Ab... ORPHA:206594
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dysphagia, Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia OMIM:618247
Developmental And Epileptic Encephalopathy 1
Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Dysphagia, ... OMIM:308350
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia, Compulsive behaviors, Decreased bod... ORPHA:209964
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Facial palsy, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progre... OMIM:608804
Optic Atrophy 11
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Facial diplegia, Stereot... OMIM:617302
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... OMIM:604391
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Spastic tetraplegia, Choreoathetosis, Agitation, Spasticity OMIM:300438
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Spastic paraplegia, Flexion contracture, Choreoathetosis, Progres... OMIM:612233
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... OMIM:607458
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Dysphagia, Choreoathetosis, Joint contracture, Gastroesophageal reflux... OMIM:617664
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoathetosis, Viral infection-i... ORPHA:2524
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis OMIM:619735
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Upper limb mus... ORPHA:90117
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... OMIM:615924
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreo... OMIM:619653
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity, Self-mutilation OMIM:308950
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... OMIM:302800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Choreoathetosis, Neutropenia, Failure to thri... ORPHA:79312
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Aggressive behavior ORPHA:208441
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Chorea, Clumsiness, Choreoathe... OMIM:615673
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... OMIM:615362
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Restlessness, Pain insensitivity, Abnormal pyramidal sign, Self-biting, Athetosis, Oculomotor apr... OMIM:614388
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized... OMIM:605013
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, High palate, Spasticity OMIM:300983
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Flexion contracture, Hepatosplenomegaly, Clumsiness, Ey... ORPHA:2590
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia OMIM:615905
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Steppage ga... OMIM:618387
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... OMIM:616795
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... OMIM:619738
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Combined Oxidative Phosphorylation Deficiency 45
Tremor, High palate, Failure to thrive, Ataxia OMIM:618951
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression... OMIM:615157
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperact... OMIM:234200
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Agitation, Hemiplegia OMIM:272300
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation OMIM:617916
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Oculopharyngodistal Myopathy 4
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... OMIM:619790
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... ORPHA:3095
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Ankle flexion contracture, Choreoathetosis, Lower limb hypertonia, Type 1 muscle... ORPHA:319514
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Elbow flexion... OMIM:619470
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Dystonia, Microcytic anemia, Chorea, Babinski sign, Choreoathetosis, Hypertonia, ... OMIM:618451
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Flexion contracture, Limb muscle weakness, Distal sensory impairment, Dist... OMIM:609260
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Huntington Disease-Like 2
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Weight loss, Dystonia, Action tremor OMIM:606438
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia OMIM:312170
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dys... ORPHA:521406
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Skeletal muscle atrophy, Dystonia OMIM:614932
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, ... OMIM:210000
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... OMIM:300911
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal amyotrophy, Distal sensory impairment, Dysphagia OMIM:607734
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Pantothenate Kinase-Associated Neurodegeneration
Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Intention tremor,... ORPHA:157850
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Distal se... ORPHA:254886
Late-Infantile/Juvenile Krabbe Disease
Tremor, Neuromuscular dysphagia, Upper limb muscle weakness, Loss of ambulation, Ataxia, Clumsine... ORPHA:206443
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di... ORPHA:98764
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... ORPHA:101075
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Protruding tongue, Inability to walk, Tongue thrusting,... OMIM:619580
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hy... OMIM:617435
Developmental And Epileptic Encephalopathy 74
Choreoathetosis OMIM:618396
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... ORPHA:424019
2,4-Dienoyl-Coa Reductase Deficiency
Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Dystonia, Spasticity, Failure to th... OMIM:616034
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Chorea, Narrow palate, Athetosis, High ... OMIM:619435
Hsd10 Disease, Infantile Type
Restlessness, Dystonia, Spastic tetraparesis, Gastrointestinal dysmotility, Poor coordination, Sp... ORPHA:391428
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk... OMIM:137440
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, High ... ORPHA:765
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Distal senso... OMIM:616719
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism... OMIM:616710
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia OMIM:245348
Lynch Syndrome
Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Gastrointestinal hemor... ORPHA:144
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hi... ORPHA:572798
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Tremor, Impaired temperature sensation, Centrally nucleated skeletal mus... OMIM:619574
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft palate, Choreoa... ORPHA:261197
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Tongue atrophy, Ataxia, Babinski sign, Limb myoclonus, Dysmetria, Dyspha... ORPHA:276198
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Protruding tongue, Chorea, Torsion ... ORPHA:53351
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Calf muscle hypertrophy, Fasciculations, Dysphagia, Limb muscle weakness, Testicular atrophy OMIM:313200
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Gastrointestinal dysmotility, Abnormal pyram... ORPHA:2131
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si... OMIM:607483
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:289916
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Malabsorption, ... ORPHA:440437
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal sensory impairment, Distal amyotrop... OMIM:118300
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Irritability, Athetosis, Gastroesophageal reflux, Bruxism, Sp... OMIM:613454
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... OMIM:615356
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dy... ORPHA:25
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Impaired vibratory sensation, Colonic diverticula, Aganglionic megacolon, Intestinal malrotation,... OMIM:243180
Pyruvate Carboxylase Deficiency
Athetosis, Clonus OMIM:266150
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia OMIM:619099
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Dystonia, Ataxia, Incoordination, Involunt... ORPHA:209905
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Gait disturbance ORPHA:101078
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Myoclonus, ... ORPHA:97229
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Small for gestational age OMIM:618857
Snijders Blok-Fisher Syndrome
Facial hypotonia, Cryptorchidism, Opisthotonus, Choreoathetosis, Spasticity OMIM:618604
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation, Thr... OMIM:615010
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My... ORPHA:254881
Developmental And Epileptic Encephalopathy 46
Tremor, Limb hypertonia, Failure to thrive, Dysphagia OMIM:617162
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... OMIM:183090
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... ORPHA:2198
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... ORPHA:442835
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Paraparesis, Choreoathetosis, Leukopenia, Anemia, Tetraparesis, Thromb... ORPHA:27
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Leigh Syndrome
Skeletal muscle atrophy, Dystonia, Ataxia, Involuntary movements, Multiple joint contractures, Ch... ORPHA:506
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Anteriorly placed anus, Athetosis, Abnormal rectum morphology OMIM:239300
Episodic Ataxia Type 1
Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Tip-toe gait, Hypertonia ORPHA:37612
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Dystonia, Spas... ORPHA:702
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... ORPHA:137898
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Spastic tetraplegia, Irritability, Athetosis, Hypertonia, Gastroesophageal ... ORPHA:79351
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Hy... OMIM:617013
4H Leukodystrophy
Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Tremor, Dysmetria, Progr... ORPHA:289494
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic para... OMIM:616586
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ... ORPHA:329478
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, High palate, Abnor... ORPHA:544254
Lesch-Nyhan Syndrome
Dystonia, Megaloblastic anemia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormali... OMIM:300322
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Gastroesophageal reflu... OMIM:618249
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... OMIM:617988
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Ataxia, Small for gestational age, Neutropenia, Dysphagia, Choreoathetos... OMIM:615471
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Distal amyotrophy, Athetosis, Failure to thrive OMIM:219150
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Cerebral palsy, Spastic paraplegia, Athetosis, Polydipsia ORPHA:369929
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Facial myokymia, Limb hypertonia ORPHA:324588
Developmental And Epileptic Encephalopathy 4
Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia OMIM:612164
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Cryptorchidism, Spastic paraplegia, Opisthotonus, Choreoathetosi... OMIM:614969
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... OMIM:612016
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
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
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Tremor, Inability to walk, Slurred speech, Acute lymphoblastic leukemi... OMIM:208900
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Slurred speech, Athetosis, Dystonia, Spasticity ORPHA:357058
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... OMIM:618718
Congenital Disorder Of Deglycosylation 1
Restlessness, Pain insensitivity, Facial hypotonia, Involuntary movements, Oral-pharyngeal dyspha... OMIM:615273
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Tarp Syndrome
Failure to thrive, Cleft palate, Tongue nodules, Athetosis, Glossoptosis, High palate, Neonatal d... OMIM:311900
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Skeletal muscle hypertrophy, Gait disturbance ORPHA:99014
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Weight loss, Inappropriate be... OMIM:168605
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... ORPHA:157846
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... ORPHA:227510
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Overweight, Self-mutilation, Depre... ORPHA:457240
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Birk-Landau-Perez Syndrome
Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Difficulty walking,... OMIM:617595
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing... ORPHA:71272
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp... ORPHA:70594
Monomelic Amyotrophy
Tremor, Distal upper limb amyotrophy, Fasciculations ORPHA:65684
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Neurodegeneration With Brain Iron Accumulation 4
Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign,... OMIM:614298
3-Methylglutaconic Aciduria, Type Viib
Dystonia, Ataxia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Leukopenia, Hyperki... OMIM:616271
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Facial hypotonia, Limb joint contracture, Small for gestational age, Splenomegaly, Chorea, Oculom... ORPHA:404454
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Hand tremor, G... OMIM:157640
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a... OMIM:208920
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Dysphagia, Increase... ORPHA:397744
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder, Failure ... OMIM:619556
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Fa... ORPHA:431361
Fanconi Anemia, Complementation Group O
Cryptorchidism, Rectal atresia, Small thenar eminence, Neonatal death, Anal atresia OMIM:613390
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... ORPHA:209335
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... ORPHA:363400
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Flexion contracture, Dysmetria, Distal sensory impairment, Gait at... OMIM:616505
Perry Syndrome
Parkinsonism, Tremor, Weight loss, Depression, Abnormality of extrapyramidal motor function ORPHA:178509
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... ORPHA:445038
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... OMIM:605355
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
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
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Hypomimic f... ORPHA:247234
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Progressive flexion contractures, Repetitive compulsive behavior, Chorea, Self-biting, Ch... ORPHA:522077
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... ORPHA:97349
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotional lability, Spasticity ORPHA:542310
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Pettigrew Syndrome
Aggressive behavior, Flexion contracture, Gait ataxia, Choreoathetosis, Self-injurious behavior, ... OMIM:304340
Japanese Encephalitis
Skeletal muscle atrophy, Neutrophilia, Weakness due to upper motor neuron dysfunction, Facial pal... ORPHA:79139
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Abnormal repetiti... OMIM:619092
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Leg muscle stiff... OMIM:615530
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Pyloric stenosis, Flexion contracture, Elbow flexion contracture, Athetosis OMIM:614438
Glutaric Acidemia I
Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia, Failure to thrive OMIM:231670
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Torticollis, Cryptorchidism, Inability to walk by childhood/adolescence, Chor... OMIM:620224
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Distal sensory impairment,... OMIM:617675
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... ORPHA:96
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Depression, Bradykinesia... ORPHA:411602
Tay-Sachs Disease
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge... ORPHA:845
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Increased fecal coproporphyrin 3, Ankle flexion contracture, Abnormal erythrocyte e... ORPHA:100924
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Aggressive behavior, Unsteady gait, Flexion contracture, Ragged-red musc... ORPHA:17
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Abnormal ... OMIM:606002
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Hyperactivity, Aggressive behavior, Tremor, Cryptorchidism, Gait at... OMIM:300354
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Cryptorchidism, Megarectum, Leukopenia, Arthrogryposis multiplex conge... OMIM:301056
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... OMIM:112200
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Depression, Truncal... OMIM:300957
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... ORPHA:36387
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Protruding tongue, Ton... ORPHA:98794
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia, Sh... OMIM:168600
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... ORPHA:99027
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Spastic tetraplegia, Athetosis, Left ventricular hypertrophy, Spasticity OMIM:615474
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, ... ORPHA:683
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Cleft palate, ... OMIM:614080
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Tremor, Hydrocele testis, Athetosis, Proximal muscle weakness in lower limbs, High... ORPHA:280633
Ataxia-Telangiectasia
Skeletal muscle atrophy, Failure to thrive, Ataxia, Tremor, Polycystic ovaries, Gait disturbance,... ORPHA:100
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... OMIM:614381
Tonne-Kalscheuer Syndrome
Broad-based gait, Congenital diaphragmatic hernia, Aggressive behavior, Tremor, Cryptorchidism, V... OMIM:300978
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, High palate, Attention deficit hyperactivity disorder... OMIM:618342
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Neoplasm of the stoma... ORPHA:44890
O'Sullivan-Mcleod Syndrome
Somatic sensory dysfunction, Eosinophilia, Hand muscle weakness, Tremor, Intrinsic hand muscle at... ORPHA:99965
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ataxia, Decreased response to growth hormone stimulation test, Gonadotropin def... OMIM:610978
L1 Syndrome
Skeletal muscle atrophy, Aganglionic megacolon, Hemiplegia/hemiparesis, Depression, Gait disturba... ORPHA:275543
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulat... ORPHA:2388
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber diameter, Dysmetria, D... ORPHA:502423
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... ORPHA:466768
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Normochromic anemia, Gastroesophageal reflux, Neutropenia, Abnormal posturing, Fa... OMIM:614857
Galloway-Mowat Syndrome 9
Choreoathetosis, Gastroesophageal reflux, Hiatus hernia OMIM:619603
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Abnormal stomach morphology, Tremor, Abnormal gallbladder morph... ORPHA:512
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Myo... OMIM:168601
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, A... ORPHA:79076
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ataxia, Cryptorchidism, Abnormal pyramidal sign, Spastic tetraplegia, Athetosis, Abnormality of e... ORPHA:2719
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa... OMIM:300894
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosis, Rectal prol... ORPHA:90038
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Insulinoma
Tremor, Primary hyperparathyroidism, Increased body weight, Zollinger-Ellison syndrome, Paresthes... ORPHA:97279
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux OMIM:619793
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
De Barsy Syndrome
Decreased muscle mass, Cryptorchidism, Athetosis, Progressive cerebellar ataxia, High palate, Fai... ORPHA:2962
Pseudohypoparathyroidism Type 1A
Calcinosis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin ... ORPHA:79443
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Tremor, Attention deficit hyperactivity disorder, Compulsive beh... ORPHA:370079
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Splenomegaly, Cryptorchidism, Cleft palate, Hepatosplenomegaly, Atheto... OMIM:614866
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Hamartomatous polyposis, Iron... OMIM:175200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Campto... OMIM:235510
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Nmda Receptor Encephalitis
Ovarian teratoma, Dystonia, Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, C... ORPHA:217253
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Agitation, Increased body weight ORPHA:276608
Classic Phenylketonuria
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv... ORPHA:79254
Early Infantile Epileptic Encephalopathy
Hyperactivity, Tremor, Cleft palate, Choreoathetosis, Self-injurious behavior, Myoclonus, Dystoni... ORPHA:1934
Developmental And Epileptic Encephalopathy 100
Protruding tongue, Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia, Chore... OMIM:619777
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Dystonia, Aganglionic megacolon, Aggressive behavior, Ileus, Hy... OMIM:300352
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Dysphagia, Loss of ambulation,... OMIM:607426
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Gastroesop... ORPHA:254892
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Tremor, Inability ... ORPHA:99956
Nipah Virus Disease
Tremor, Myoclonus, Anorexia ORPHA:99825
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Macrocytic anemia, Tremor, Dysmetria, Hypersegmentation of neutrophil nu... OMIM:615578
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... ORPHA:424016
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Dystonia, Camptodactyly of finger, Tremor, Splenomegaly, Unsteady g... ORPHA:354
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Rhabdomyol... ORPHA:713
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Tremor, Rhabdomyolysis, Depression, Hematochezia, Cholelithiasis ORPHA:79095
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... OMIM:618060
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Submucous cleft hard pala... OMIM:619680
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Spasticity, Spastic diplegia ORPHA:2715
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Abnormality of neutrophils, Malabsorption, Cryptorchidism, Thr... ORPHA:235
Angelman Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Broad-based gait, Ataxia, Aggressive be... ORPHA:72
Sneddon Syndrome
Facial palsy, Tremor, Impaired distal tactile sensation, Hemiplegia, Lymphopenia OMIM:182410
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Failure to thrive, Intestinal malrotation, Hiatus hernia, Abnorm... ORPHA:2538
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor, Duodenal ulcer OMIM:190310
Monosomy 18Q
Bilateral cryptorchidism, Poor coordination, Choreoathetosis, High palate, Failure to thrive, Sle... ORPHA:1600
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Irrita... ORPHA:525731
Xeroderma Pigmentosum, Complementation Group A
Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment OMIM:278700
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Pyloric ste... OMIM:613177
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Aceruloplasminemia
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Ri... ORPHA:48818
Typhoid
Gastrointestinal hemorrhage, Ataxia, Tremor, Splenomegaly, Hypertonia ORPHA:99745
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low fru... ORPHA:646
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Ag... ORPHA:3385
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Splenomegaly, Irritability, Emotional lability, Failure to thrive, Decreased test... OMIM:201100
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Dysphagia, Testicular atrophy, Thromb... OMIM:222300
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Gait imbalance... ORPHA:2828
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Lactose intolerance, Ataxia, Tremor, Inability to walk, Overweight, Obesit... OMIM:619229
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia, Spast... OMIM:278800
Hallermann-Streiff Syndrome
Hyperactivity, Small for gestational age, Cryptorchidism, High, narrow palate, Narrow palate, Cho... OMIM:234100
Cystic Fibrosis
Meconium ileus, Malabsorption, Rectal prolapse, Depression, Gastroesophageal reflux, Steatorrhea,... ORPHA:586
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis, Goiter OMIM:613239
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Rhabdomyolysis, Irritability, Hypertonia, Agitation, Myoc... ORPHA:43116
Oculopharyngodistal Myopathy 1
Ataxia, Autophagic vacuoles, Facial palsy, Tremor, Weight loss, Distal amyotrophy, High palate, D... OMIM:164310
Alexander Disease
Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, S... ORPHA:58
Hyperlysinemia
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... ORPHA:2203
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles ORPHA:3299
Citrullinemia Type Ii
Restlessness, Hyperactivity, Abnormal eating behavior, Aggressive behavior, Tremor, Irritability,... ORPHA:247585
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the pancreas, Testicular neoplasm, Rhabdomyosarcoma, Ovarian ... ORPHA:524
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis OMIM:617186
Williams Syndrome
Tremor, Rectal prolapse, Dysmetria, Gastroesophageal reflux, Compulsive behaviors, Ataxia, Crypto... ORPHA:904
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Spasticity, Ataxia OMIM:278730
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Pure red cell aplasia, Autoimmune thrombo... OMIM:613179
Vici Syndrome
Failure to thrive, Left ventricular hypertrophy, Dysphagia, Cleft palate, Leukopenia, T lymphocyt... OMIM:242840
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... OMIM:105210
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Failure to thriv... OMIM:615512
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, High palate, Attention deficit hyperactivity disorder, ... ORPHA:476126
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Intestinal malrotation, Tremor, Abnormality of the spleen, Failure to th... ORPHA:94063
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Hepatosplenomegaly, Steatorrhea, Failure to thrive OMIM:219700
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Xerostomia, Dysmetria, Spasticity OMIM:618527
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Immunodeficiency 40
T lymphocytopenia, Focal active colitis, Thrombocytopenia, Rectal fistula OMIM:616433
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Malabsorption, Tremor, Babinski sign, Irritability, Hypertonia, Spastici... OMIM:616539
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Abnormal rectum morphology, Failure to thrive, Abnormal testis m... ORPHA:2556
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... ORPHA:447753
Acute Intermittent Porphyria
Restlessness, Somatic sensory dysfunction, Proximal muscle weakness in upper limbs, Tremor, Ileus... ORPHA:79276
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ataxia, Aganglionic megacolon, Splenomegaly, Ileus, Abnormal pyramidal sign, Arthrogryposis multi... ORPHA:163746
Leprechaunism
Skeletal muscle atrophy, Enlarged ovaries, Rectal prolapse, Megarectum, Decreased body weight, Fa... ORPHA:508
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Facial pals... ORPHA:297
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Anemia, Intestinal bleeding, Abnormality of extrapyramid... OMIM:612199
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, C... ORPHA:454840
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Limb dystonia, Dystonia, Poor motor coordination, Hepatocel... OMIM:277900
Williams-Beuren Syndrome
Colonic diverticula, Incoordination, Failure to thrive in infancy, Celiac disease, Rectal prolaps... OMIM:194050
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Foot dorsiflexor weakness, Ataxia, Abnormal dense gran... OMIM:214500
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Rectal prolapse, Pseudohypoparathyroidism, Obesity, Gastroesophageal reflux, High palate, Failure... OMIM:617157
Fraser Syndrome 2
Rectal atresia, Hypoplasia of the thymus, Intestinal malrotation, Anal atresia OMIM:617666
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Dysphagia, Hypertonia, Neutropenia, Neonatal death, Failure to thrive OMIM:617248
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Intestinal malrotation, Gastrointestinal atresia, Intestinal atresia... ORPHA:436252
Orofaciodigital Syndrome Type 4
Decreased testicular size, Monorchism, Camptodactyly of finger, High, narrow palate, Submucous cl... ORPHA:2753
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormality of extrapyramidal motor function, Decreased testicular size, Dystonia OMIM:241080
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia ORPHA:1578
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Cryptorchidism, High, narrow pa... OMIM:300967
Microphthalmia, Syndromic 1
Aganglionic megacolon, Aggressive behavior, Cryptorchidism, High, narrow palate, Rectal prolapse,... OMIM:309800
Coffin-Lowry Syndrome
Rectal prolapse, High palate, Narrow palate, Decreased body weight OMIM:303600
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia OMIM:601495
Mednik Syndrome
Neonatal death, Volvulus, Jejunal atresia, Microcolon OMIM:609313
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Choreoathetosis, Dystonia, D... ORPHA:3464
Malakoplakia
Orchitis, Neoplasm of the colon, Neoplasm of the rectum, Follicular hyperplasia ORPHA:556
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Tetraplegia, Weight... ORPHA:79102
Gabriele-De Vries Syndrome
Waddling gait, Distal lower limb amyotrophy, Facial hypotonia, Decreased response to growth hormo... ORPHA:506358
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353281
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis, Rectal ab... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis, Rectal ab... OMIM:233690
Classical Ehlers-Danlos Syndrome
Rectal prolapse, Gastroesophageal reflux, Hiatus hernia ORPHA:287
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis... ORPHA:2241
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, ... ORPHA:1359
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis, Rectal ab... OMIM:306400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353277
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess OMIM:116920
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Intestinal malrotation, Congenital diaphragmatic hernia, A... OMIM:600001
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Penile Agenesis
Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia OMIM:619351
Restrictive Dermopathy
Multiple joint contractures, Camptodactyly of finger, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Sacral Defect With Anterior Meningocele
Rectal abscess OMIM:600145

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 Araf

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 Araf.

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

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
Araftm105327(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Araftm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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