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

IMPC Data Collections

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

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.

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
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Dystonia 31
Dysphagia, Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... OMIM:619565
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Chorea, Apathy, Motor tics, Parkinsonism, Anxiety, Depression OMIM:615483
Folate Malabsorption, Hereditary
Athetosis, Neutropenia, Leukopenia, Failure to thrive, Malabsorption, Ataxia, Irritability, Throm... OMIM:229050
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Athetosis, Dysphagia, Dystonia, Self-injurious behavior, Chorea, Hyperkine... OMIM:617493
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Oromandibular dystonia, Irritability, Abnormal pyramidal sign, Gait disturbance, Dysp... ORPHA:216873
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Dysphagia, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, E... ORPHA:276435
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Depression, Rigi... OMIM:619491
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Leukodystrophy, Hypomyelinating, 15
Athetosis, Dystonia, Dysphagia, Failure to thrive, Intention tremor, Ataxia, Inability to walk, S... OMIM:617951
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Aganglionic megacolon, Chorea, Self-mutilation, Ataxia, Hypertonia... ORPHA:52503
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Distal sensory impairment, Distal amyotrophy, Limb ataxia, Gait ataxia OMIM:617018
Leber Optic Atrophy And Dystonia
Athetosis, Dystonia, Dysphagia, Skeletal muscle atrophy, Bradykinesia, Upper motor neuron dysfunc... OMIM:500001
Pelizaeus-Merzbacher Disease, Classic Form
Athetosis, Dystonia, Dystonic gait, Abnormality of extrapyramidal motor function, Spastic tetrapa... ORPHA:280219
Spinocerebellar Ataxia 37
Dysphagia, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dysphagia, Dystonia, Spastic gait, Spastic dysarthria, Lo... ORPHA:251282
Developmental And Epileptic Encephalopathy 44
Athetosis, Dystonia, Failure to thrive, Irritability, Spasticity, Gastroesophageal reflux OMIM:617132
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... ORPHA:382
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron... ORPHA:401901
Developmental And Epileptic Encephalopathy 42
Athetosis, Tremor, Ataxia, Hypertonia, Flexion contracture OMIM:617106
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Skeletal muscle atrophy, Tremor, Ataxia, Spasticity, Flexion contracture OMIM:611105
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Allan-Herndon-Dudley Syndrome
Athetosis, Babinski sign, Clonus, Generalized amyotrophy, Spastic tetraplegia, Ataxia, Elevated c... OMIM:300523
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Limb tremor, Tongue thru... OMIM:608643
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Dystonia, Involuntary movements, Writer's cramp, Chorea ORPHA:98809
Spinocerebellar Ataxia 48
Babinski sign, Dysphagia, Cachexia, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Pa... OMIM:618093
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis, Dysphagia OMIM:300857
3-Methylglutaconic Aciduria, Type I
Athetosis, Dystonia, Failure to thrive, Self-mutilation, Spastic tetraplegia, Ataxia, Spasticity OMIM:250950
Free Sialic Acid Storage Disease
Athetosis, Gait disturbance, Failure to thrive in infancy, Aplasia/Hypoplasia of the abdominal wa... ORPHA:834
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Athetosis, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Inability to walk OMIM:615159
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, High palate, Spastic paraplegia OMIM:309560
Leukodystrophy, Hypomyelinating, 21
Athetosis, Dystonia, Failure to thrive, Ataxia, Tetraparesis, Cryptorchidism OMIM:619310
Rapid-Onset Dystonia-Parkinsonism
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, ... ORPHA:71517
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Tremor, Distal sensory impairment, Calf muscle hypertrop... OMIM:615048
Salla Disease
Athetosis, Vacuolated lymphocytes, Ataxia, Inability to walk, Spasticity OMIM:604369
Infantile Convulsions And Choreoathetosis
Athetosis, Involuntary movements, Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia ORPHA:31709
Autosomal Dominant Spastic Paraplegia Type 29
Impaired proprioception, Babinski sign, Clonus, Abnormal rectum morphology, Impaired vibratory se... ORPHA:101009
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Athetosis, Dystonia, Failure to thrive, Facial diplegia, Loss of ability to walk in early childho... OMIM:612073
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Myoclonus, Tremor, Anxiety, Depression OMIM:159900
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paralysis, Vocal cord paresis, Tremor, Distal amyotrophy, Difficulty walking OMIM:158580
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Dysphagia, Myoclonus OMIM:617235
Niemann-Pick Disease, Type A
Athetosis, Skeletal muscle atrophy, Rigidity, Lymphadenopathy, Failure to thrive, Bone-marrow foa... OMIM:257200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Apraxia, Spasticity, Premature ovarian insufficiency, Depression OMIM:615889
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxie... OMIM:606438
Myopathy, Spheroid Body
Proximal amyotrophy, Dysphagia, Myopathy, Skeletal muscle atrophy, Tremor, Waddling gait, Broad-b... OMIM:182920
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Dysphagia, Choreoathetosis, Myoclonus, Tremor, Hypertonia, Irritability OMIM:261630
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Emotional... OMIM:615362
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Dysphagia, High palate, Limb hypertonia, Dysmetria, Aggressive behavior, Generalized a... ORPHA:572798
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Chorea, Failure to thrive OMIM:309541
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Migraine, Familial Hemiplegic, 1
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety OMIM:141500
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Athetosis, Dystonia, Limb hypertonia, Skeletal muscle atrophy, Dysmetria, Aggressive behavior, Sp... OMIM:617710
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Dysphagia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, ... OMIM:261640
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Hereditary Methemoglobinemia
Athetosis, Small for gestational age, Methemoglobinemia, Spastic tetraplegia, Hypertonia, Spastic... ORPHA:621
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Apathy, Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to ... ORPHA:240085
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Spasticity OMIM:257800
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Huntington Disease
Clumsiness, Gait imbalance, Decreased body mass index, Choking episodes, Apathy, Irritability, Or... ORPHA:399
Developmental And Epileptic Encephalopathy 17
Athetosis, Chorea, Dystonia OMIM:615473
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Microhydranencephaly
Athetosis, Skeletal muscle atrophy, Self-mutilation, Spastic tetraplegia, Multiple joint contract... OMIM:605013
Sporadic Infantile Bilateral Striatal Necrosis
Babinski sign, Dysphagia, Inappropriate crying, Gait disturbance, Dystonia, Chorea, Bradykinesia,... ORPHA:225147
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Infantile Cerebellar-Retinal Degeneration
Athetosis, Ataxia, Decreased body weight, Failure to thrive OMIM:614559
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Ataxia, Dystonia, Spasticity OMIM:612951
Leukoencephalopathy with metaphyseal chondrodysplasia
Tremor, Babinski sign, Gait disturbance, Spastic paraplegia OMIM:300660
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... ORPHA:36899
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Dystonia 12
Dystonia, Dysphagia, Torticollis, Bradykinesia, Hypomimic face, Emotional lability, Unsteady gait... OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, D... OMIM:607317
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Proximal muscle weakness in lower limbs, Hand muscle weakness, Distal upper lim... ORPHA:101077
Ritscher-Schinzel Syndrome 4
Athetosis, Dysphagia, High palate, Chorea, Aggressive behavior, Stereotypy, Ataxia, Narrow palate... OMIM:619435
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Depression, Spasticity OMIM:614307
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Dysphagia, Spastic dysarthria, Lower limb spasticity, Imp... ORPHA:352641
Glutathionuria
Tremor OMIM:231950
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Athetosis, Dystonia, Chorea, Esophagitis, Speech apraxia, Tremor, Ataxia, Achalasia, Waddling gai... OMIM:615356
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Gait disturbance, Frequent falls, Dysmetria, Chorea, Weight lo... ORPHA:157941
Developmental And Epileptic Encephalopathy 67
Athetosis, Gait disturbance OMIM:618141
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Gait disturbance, Rigidity, Myoclonus, Inability to walk OMIM:618241
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Dystonia, Dysphagia, Poor motor coordination, Rigidity, Chorea, Tremor, Ataxia, Limb d... ORPHA:25
Spinocerebellar Ataxia 18
Babinski sign, Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Progressive gait ataxia,... OMIM:607458
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dysphagia, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykines... OMIM:606159
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Congenital Disorder Of Deglycosylation 1
Involuntary movements, Athetosis, Impaired oral bolus formation, Dysmetria, Chorea, Myoclonus, Fa... OMIM:615273
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Weakness of facial musculature, Gastrointestinal dysmotility, Tremor, Ataxia OMIM:618637
Pandas
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... ORPHA:66624
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Athetosis, Inappropriate crying, Failure to thrive, Megaloblastic anemia, Esophagitis, Spastic te... ORPHA:79351
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Hamstring contractures, Achil... OMIM:210000
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Abnormal fear/anxiety-related behavior, Obesity, Aggressive behavior, Shuffling g... ORPHA:3077
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Rett Syndrome, Congenital Variant
Athetosis, Inappropriate crying, Dystonia, Chorea, Tongue thrusting, Stereotypy, Irritability, Ap... OMIM:613454
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Limb fasciculations, Tremor, Distal sensory impairment, Inability to walk, Upper limb ... ORPHA:90117
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, High palate, Failure to thrive OMIM:618951
Dystonia 16
Postural tremor, Dysphagia, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Pa... ORPHA:210571
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem ga... OMIM:619028
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Dysphagia, Opisthotonus, Frequent falls, Weight loss, Inability to walk, Genera... ORPHA:216866
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Leigh Syndrome
Involuntary movements, Athetosis, Dysphagia, Dystonia, Neutropenia, Skeletal muscle atrophy, Myop... ORPHA:506
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Small for gestational age OMIM:618857
Atypical Rett Syndrome
Involuntary movements, Inappropriate crying, Panic attack, Gait disturbance, Limb myoclonus, Dyst... ORPHA:3095
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Dysphagia, Gait disturbance, Hand muscle weakness, Frequent falls, Dysmetria, Hand... OMIM:302800
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Apathy, Bradykinesia, Shuffling gait, Falls, Resting tremor, Short stepped shuffling ga... ORPHA:306692
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... ORPHA:240103
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Dysphagia, Spastic gait, Spastic ataxia, T... OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Distal amyotrophy, Foot dors... OMIM:618387
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Mohr-Tranebjaerg Syndrome
Dystonia, Dysphagia, Tremor, Spasticity, Abnormal posturing OMIM:304700
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Clumsiness, Ataxia, Athetosis, Loss of ability to walk OMIM:271245
Spinocerebellar Ataxia 19
Postural tremor, Dysphagia, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ... OMIM:607346
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormality of the Achilles tendon, L... ORPHA:98763
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Progressive distal muscular atrophy, Myoclonus, Facial palsy, Fasciculations, Tre... OMIM:159950
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Hyperphosphatasia With Mental Retardation Syndrome 1
Athetosis, Aganglionic megacolon, Cleft palate, Abnormal rectum morphology, Anteriorly placed anus OMIM:239300
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Skeletal muscle atrophy, Dysmetria, Aggressive behavior, Bradykinesia, T... OMIM:615157
Oculopharyngodistal Myopathy 3
Dysphagia, Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal mu... OMIM:619473
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Adrenal hyperplasia, Polydipsia, Cerebral palsy, Spastic paraplegia ORPHA:369929
Ganglioneuroma
Colorectal polyposis, Functional intestinal obstruction, Gastrointestinal hemorrhage, Abnormal re... ORPHA:251992
Dystonia 1, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Blepharospasm, Tremor, Hypertonia, Torsion dystonia, Depression, Abn... OMIM:128100
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Aggressive behavior, Falls, Bradykinesia, Spastic tetraplegia, Dista... OMIM:617225
Autosomal Recessive Progressive External Ophthalmoplegia
Dysphagia, Hand muscle weakness, Myopathy, Paresthesia, Ragged-red muscle fibers, Shuffling gait,... ORPHA:254886
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Kufor-Rakeb Syndrome
Babinski sign, Dysphagia, Gait disturbance, Dystonia, Rigidity, Torticollis, Aggressive behavior,... OMIM:606693
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Dystonia, Myoclonus, Involuntary movements OMIM:611092
Spinocerebellar Ataxia 7
Babinski sign, Dysphagia, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor... OMIM:164500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Limb muscle weakness, Steppage gait, Distal amyotrophy, Tremor, Distal sensory imp... OMIM:609260
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia OMIM:615768
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Ankle flexion contracture, Distal sensory impairment, Foot dorsiflexor weakness OMIM:616668
Huntington Disease-Like 1
Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Unsteady gait, Anxiety, Depression OMIM:603218
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Tremor, Ataxia, Distal l... ORPHA:101075
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Irritability, Hemiplegia, Acroparesthesia, Gait disturbance, Loss of ambulation, Slur... ORPHA:206443
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Macroorchidism, High palate, Dystonia, Choreoathetosis, Obesity, Spastic gait, Shu... OMIM:300055
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... ORPHA:424019
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Cleft palate, Dysmetria, Failure to thrive, Aggressive behavior, Myoclonus, Glosso... OMIM:618356
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Solitary Rectal Ulcer Syndrome
Rectal prolapse, Stercoral ulcer, Anemia, Anal fissure, Decreased body weight, Hematochezia ORPHA:209964
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Apraxia, Spasticity, P... OMIM:612953
Intellectual Developmental Disorder, X-Linked 104
High palate, Aggressive behavior, Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Dysphagia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Irritability, Hyperkinet... OMIM:233910
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia, Loss of ability to walk, Unsteady gait OMIM:617917
Choreoacanthocytosis
Dystonia, Dysphagia, Skeletal muscle atrophy, Limb muscle weakness, Progressive choreoathetosis, ... OMIM:200150
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, Irritability, Reticulocytosis OMIM:612126
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Athetosis, Impaired oral bolus formation, Dystonia, Limb joint contracture, Lingual dystonia, Sma... ORPHA:404454
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... OMIM:610245
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety, Depression OMIM:605909
Dopa-Responsive Dystonia
Irritability, Panic attack, Anxiety, Oculogyric crisis, Lethargy, Gait disturbance, Poor coordina... ORPHA:255
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Dysphagia, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inabi... ORPHA:2590
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Foot dorsiflexor weakness, Weakness of the intrinsic hand muscles, Frequent... ORPHA:329478
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Chorea, Benign Hereditary
Chorea, Anxiety, Gait disturbance OMIM:118700
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... ORPHA:98764
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Diff... OMIM:619191
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Fasciculations, Intention ... ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Dysmetria, Unsteady gait, Truncal ataxia OMIM:616127
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Gerstmann-Straussler Disease
Rigidity, Weight loss, Myoclonus, Aggressive behavior, Bradykinesia, Tremor, Emotional lability, ... OMIM:137440
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait, E... OMIM:619470
Cutis Laxa, Autosomal Recessive, Type Iiia
Athetosis, Cryptorchidism, Failure to thrive OMIM:219150
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Autosomal Recessive Cutis Laxa Type 2A
Athetosis, Dystonia, Ataxia, Inability to walk, Slurred speech, Spasticity ORPHA:357058
Peutz-Jeghers Syndrome
Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Neoplasm of the rectum, Esophageal... ORPHA:2869
Familial Colorectal Cancer Type X
Gait disturbance, Neoplasm of the rectum, Paresthesia, Stomach cancer, Hepatocellular carcinoma, ... ORPHA:440437
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Dysphagia, Impaired temperature sensation, Triceps weakness, Impaired pain sensation, Fasciculati... OMIM:619574
Hsd10 Disease
Gait disturbance, Dysphagia, Rigidity, Choreoathetosis, Gastrointestinal dysmotility, Myoclonus, ... ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Lynch Syndrome
Ovarian neoplasm, Paresthesia, Gastrointestinal hemorrhage, Irritability, Abnormal pyramidal sign... ORPHA:144
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Distal amyotrophy OMIM:619099
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Leg muscle st... ORPHA:391411
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Riboflavin Transporter Deficiency
Dysphagia, Cachexia, Skeletal muscle atrophy, Limb muscle weakness, Aggressive behavior, Myoclonu... ORPHA:97229
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Increased intramyocellular lipid droplets, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Spinocerebellar Ataxia Type 36
Babinski sign, Dysphagia, Limb myoclonus, Skeletal muscle atrophy, Dysmetria, Hand tremor, Fascic... ORPHA:276198
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Hypomimic f... OMIM:300423
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
X-Linked Dystonia-Parkinsonism
Frequent falls, Hand tremor, Chorea, Myoclonus, Shuffling gait, Bradykinesia, Impaired oropharyng... ORPHA:53351
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Splenomegaly, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia OMIM:616719
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Dysphagia, Myoclonus, Intention tremor, Action tremor, Thrombocytopenia, Gait at... OMIM:254900
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Dysphagia, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, ... ORPHA:79263
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Left ventricular hypertrophy, Cerebral palsy, Spastic tetraplegia OMIM:615474
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Impaired proprioception, Aganglionic megacolon, Intestinal pseudo-obstruction, Functional intesti... OMIM:243180
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... OMIM:612716
Perry Syndrome
Dystonia, Inappropriate behavior, Rigidity, Suicidal ideation, Weight loss, Apathy, Bradykinesia,... OMIM:168605
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Athetosis, Rectovestibular fistula, Dysphagia, High palate, Proximal muscle weakness in lower lim... ORPHA:280633
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Dysphagia, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titub... OMIM:607483
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Dysphagia, Limb muscle weakness, Fasciculations, Tremor, Calf muscle hypertrophy OMIM:313200
Oculocerebral Hypopigmentation Syndrome, Cross Type
Athetosis, Abnormality of extrapyramidal motor function, Anemia, Spastic tetraplegia, Ataxia, Spa... ORPHA:2719
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Pseudobulbar paralysis, Suicidal ideation, Aggressive beh... ORPHA:208441
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Anxiety, Apathy, Bradyki... ORPHA:227510
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Akinetic mutism, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysar... ORPHA:282166
Lopes-Maciel-Rodan Syndrome
Dystonia, Dysphagia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, A... OMIM:617435
Parkinsonism With Spasticity, X-Linked
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Spinocerebellar Ataxia 2
Postural tremor, Dysphagia, Rigidity, Distal amyotrophy, Dysmetria, Myoclonus, Bradykinesia, Fasc... OMIM:183090
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Generalized limb muscle atrophy, Impaired dist... ORPHA:137898
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Anxiety, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Restin... OMIM:300623
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Dystonia, Central core regions in muscle fibers, Progressive extrapyramida... ORPHA:401768
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Splenomegaly, Tremor, Ataxia, Irritability, Emotional lability, Decreased test... OMIM:201100
Aicardi-Goutieres Syndrome 6
Dystonia, Rigidity, Tremor, Loss of ability to walk, Hemolytic anemia OMIM:615010
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Akinesia, Tremor, Pa... ORPHA:240071
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Extrapyramidal muscular rigidity, Lef... ORPHA:93952
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Dysphagia, Ragged-red muscle fibers, Skeletal muscle atrophy, Impaired distal... OMIM:157640
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Limb hypertonia, Chorea, Resting tremor, Anxiety, Facial myokymia OMIM:606703
Perry Syndrome
Weight loss, Apathy, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Depression ORPHA:178509
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, Bradykines... OMIM:300894
Pelizaeus-Merzbacher Disease
Dystonia, Dysphagia, Head titubation, Choreoathetosis, Failure to thrive, Tremor, Ataxia, Progres... OMIM:312080
De Barsy Syndrome
Athetosis, Decreased muscle mass, High palate, Failure to thrive, Progressive cerebellar ataxia, ... ORPHA:2962
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, High palate, Upper limb spasticity, Self-mutilation, Depression, Stereotypy, Tr... ORPHA:457240
Brain Dopamine-Serotonin Vesicular Transport Disease
Inappropriate crying, Gait disturbance, Dystonia, Shuffling gait, Tremor, Abnormality of coordina... ORPHA:352649
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Skeletal muscle hypertrophy, Impaired pain sensation, Paraparesis, Tremor, Ataxia ORPHA:99014
Gabriele-De Vries Syndrome
Tremor, Dystonia, Cryptorchidism, Waddling gait OMIM:617557
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Dysphagia, High palate, Choreoathetosis, Self-mutilation, Tremor, Ataxia OMIM:619422
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Ataxia, Hypera... ORPHA:228360
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Failure to thrive, Myoclonus, Tremor, Abnormali... ORPHA:442835
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Esophageal neoplasm, Abnormal large intestine morpholog... ORPHA:2198
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal p... OMIM:617145
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Depression, Difficulty walking ORPHA:306669
4H Leukodystrophy
Dystonia, Dysphagia, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait at... ORPHA:289494
Monomelic Amyotrophy
Tremor, Distal upper limb amyotrophy, Fasciculations ORPHA:65684
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Inappropriate behavior, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, E... ORPHA:99750
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Gait disturbance, Skeletal muscle atrophy, Pseudobulbar paralysis, Tremor, Tetrapl... OMIM:616586
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, High palate, Poor coordination, Abnormality of pain sensation, Abnormal eating ... ORPHA:544254
Myopathy, Mitochondrial, And Ataxia
High palate, Dysmetria, Tremor, Ataxia, Distal sensory impairment, Dysdiadochokinesis, Inability ... OMIM:617675
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, T... OMIM:605355
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Gait disturbance, Frequent falls, Choreoathetosis, Steppage gait, Positive Romberg ... ORPHA:206594
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Dysphagia, Happy demeanor, Tremor by anatomical site, Rigid... ORPHA:97349
Tonne-Kalscheuer Syndrome
Dysphagia, Self-injurious behavior, Congenital diaphragmatic hernia, Aggressive behavior, Velopha... OMIM:300978
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity ORPHA:33445
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Neuroferritinopathy
Involuntary movements, Babinski sign, Dysphagia, Dystonia, Arm dystonia, Leg dystonia, Writer's c... ORPHA:157846
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Failure to thrive, Multiple gastric polyps, Anemia, Int... OMIM:174900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Happy demeanor, Gait imbalance, Myoclonus, Tongue thrusting, Abnormal eating behavior,... ORPHA:98794
Spinocerebellar Ataxia 8
Dysphagia, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal ... OMIM:608768
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking, Facial myokymia ORPHA:324588
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Small for gestational age, Increased body mass index, Truncal obesity, Tremor, ... OMIM:300957
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Dysmetria, Steppage gait, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia,... OMIM:616505
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Dystonia 2, Torsion, Autosomal Recessive
Dysphagia, Torticollis, Tremor, Torsion dystonia, Blepharospasm OMIM:224500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inabil... OMIM:618718
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Insulinoma
Paresthesia, Polyphagia, Anxiety, Abnormality of pain sensation, Tremor, Primary hyperparathyroid... ORPHA:97279
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Apathy, Bradykinesia, Pr... ORPHA:98933
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... OMIM:614831
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Hereditary Late-Onset Parkinson Disease
Dystonia, Dysphagia, Rigidity, Frequent falls, Weight loss, Apathy, Bradykinesia, Shuffling gait,... ORPHA:411602
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Failure to thrive, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking ORPHA:477673
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... ORPHA:98902
Trisomy X
Tremor, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:3375
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight, Flexion contracture OMIM:278760
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Gait disturbance, Dystonia, Distal amyotrophy, Oromandibular dystonia, Abnormality... OMIM:614298
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric crisis, Gait ataxia, D... OMIM:618049
Leukodystrophy, Hypomyelinating, 6
Dystonia, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Small for gestational age, Cerebral palsy, Bradykinesia, Tre... ORPHA:70594
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Distal sensory impairment, Truncal... OMIM:208920
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Skeletal muscle atrophy, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdi... ORPHA:96
Radiation Proctitis
Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum morphology, ... ORPHA:70475
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Dysphagia, Rigidity, Shuffling gait, Gait ataxia, Intention tremor, Ataxia, Restin... ORPHA:247234
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
High palate, Weakness of facial musculature, Dysmetria, Increased muscle glycogen content, Increa... ORPHA:502423
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Intussusception, Intestinal bleeding, Thromboc... OMIM:112200
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Dystonia, Inappropriate behavior, Chorea, Exaggerated sta... ORPHA:309246
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Sandifer Syndrome
Torticollis, Esophagitis, Anemia, Gastroesophageal reflux, Hiatus hernia, Hematemesis, Abnormal p... ORPHA:71272
Progressive Supranuclear Palsy
Dystonia, Dysphagia, Rigidity, Falls, Bradykinesia, Tremor, Depression, Unsteady gait, Blepharosp... ORPHA:683
Jaberi-Elahi Syndrome
Dystonia, Choreoathetosis, Dysmetria, Failure to thrive, Tremor, Inability to walk, Spasticity, G... OMIM:617988
Ataxia-Telangiectasia
Gait disturbance, Skeletal muscle atrophy, Failure to thrive, Polycystic ovaries, Tremor, Ataxia,... ORPHA:100
Fanconi Anemia, Complementation Group O
Cryptorchidism, Rectal atresia, Anal atresia OMIM:613390
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Skeletal muscle atrophy, Tremor, Inability to walk, Oculogyric crisis, Difficulty walking ORPHA:330050
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy, Poor motor coordination, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasti... ORPHA:363400
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Macroglossia, Aggressive behavior, Tremor, Hyperactivity, Distal lower limb amyotrop... OMIM:300354
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Dysphagia, Anxiety, Gait ataxia, Depression OMIM:613077
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Gait disturbance, Choreoathetosis, Eyelid apraxia, Bradykinesia, Blephar... OMIM:234200
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Gait ataxia OMIM:617810
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Rigidity, Tremor, Ataxia, Somatic sensory dysfunction OMIM:603472
Spinocerebellar Ataxia Type 42
Babinski sign, Impaired vibration sensation at ankles, Dysphagia, Spastic gait, Unsteady gait, Re... ORPHA:458803
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal pyramidal sign, Gait disturbance, Clonus, Dysmetria, Intention ... ORPHA:99027
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... ORPHA:98808
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Borderline personality disorder, Tremor, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Incoordina... OMIM:618060
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Gastroesophageal reflux, Thrombocytopenia, Cryptorchidism, Abnormal posturin... OMIM:614857
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Phonic tics, Splenomegaly, Irritability,... ORPHA:2388
Tay-Sachs Disease
Clumsiness, Quadriceps muscle atrophy, Fasciculations, Incoordination, Anxiety, Lower limb muscle... ORPHA:845
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Tremor, Dysmetria, Dysdiadochokinesis, Truncal ataxia OMIM:610185
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Small for gestational age, Leukopenia, Arthrogryposis multiplex congenita, Thrombocyt... OMIM:301056
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Tremor, Ataxia, Hypertonia, Inability to walk, Attention deficit hyperactivity... OMIM:619556
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired tactile sensation, Gait ataxia OMIM:619092
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Joint contracture of the hand, Fasciculations, Proximal muscle weakness in upper limbs, Somatic s... ORPHA:466768
Proximal 16P11.2 Microduplication Syndrome
Failure to thrive, Decreased body mass index, Congenital diaphragmatic hernia, Tremor, Anxiety, A... ORPHA:370079
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Impaired proprioception, Dystonia, Dysphagia, Impaired distal tactile sensation, Chorea, Progress... OMIM:606002
Parkinson Disease, Late-Onset
Dystonia, Dysphagia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait... OMIM:168600
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Failure to thrive, Knee flexion contracture, Sple... OMIM:608799
Adult-Onset Cervical Dystonia, Dyt23 Type
Panic attack, Axial dystonia, Writer's cramp, Torticollis, Neck muscle hypertrophy, Myoclonus, Li... ORPHA:420492
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Quadriceps muscle weakness, Anxiety, Lethargy, Gait disturbance, Bradykinesia, Shoulder g... ORPHA:254892
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Impaired proprioception, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... ORPHA:101
Juvenile Polyposis Of Infancy
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia,... ORPHA:79076
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Macrocytic anemia, Dysmetria, Skeletal muscle atrophy OMIM:615578
Stiff-Person Syndrome
Myoclonic spasms, Opisthotonus, Rigidity, Frequent falls, Agoraphobia, Asymmetric limb muscle sti... OMIM:184850
L1 Syndrome
Gait disturbance, Aganglionic megacolon, Skeletal muscle atrophy, Spasticity, Depression, Hemiple... ORPHA:275543
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Rectal prolapse, Schistocytosis, Microangiopathic hemolytic anemia, Acute colitis, ... ORPHA:90038
Mohr-Tranebjaerg Syndrome
Babinski sign, Dysphagia, Dystonia, Oromandibular dystonia, Shuffling gait, Focal dystonia, Tremo... ORPHA:52368
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination, Anxiety ORPHA:36387
48,Xxyy Syndrome
Cleft palate, Anxiety, Stereotypy, Tremor, Ataxia, Attention deficit hyperactivity disorder, Gast... ORPHA:10
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, High palate, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spastic... ORPHA:765
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity, Gait ataxia ORPHA:1170
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, High palate, Tremor, Spastic diplegia, Oral-pharyngeal dysphagia, Obesity ORPHA:480907
Stiff Person Spectrum Disorder
Rigidity, Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Paraspinal muscle... ORPHA:3198
Sialidosis Type 2
Skeletal muscle atrophy, Splenomegaly, Tremor, Ataxia, Flexion contracture ORPHA:87876
Peutz-Jeghers Syndrome
Rectal prolapse, Iron deficiency anemia, Gastrointestinal carcinoma, Neoplasm of the pancreas, Ov... OMIM:175200
Myopathy With Extrapyramidal Signs
Clumsiness, Leukocytosis, Clonus, Dystonia, Frequent falls, Choreoathetosis, Chorea, Abnormality ... OMIM:615673
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ak... ORPHA:98773
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Parkinson Disease 1, Autosomal Dominant
Gait disturbance, Dysphagia, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting... OMIM:168601
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Dysphagia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid a... ORPHA:199351
Peroxisome Biogenesis Disorder 5B
Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Fatty Acid Hydroxylase-Associated Neurodegeneration
Dysphagia, Progressive extrapyramidal movement disorder, Loss of ambulation, Falls, Progressive g... ORPHA:329308
Aceruloplasminemia
Involuntary movements, Dystonia, Hypochromic microcytic anemia, Rigidity, Torticollis, Chorea, Re... ORPHA:48818
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
Angelman Syndrome
Dysphagia, Happy demeanor, Polyphagia, Anxiety, Self-injurious behavior, Aggressive behavior, Myo... ORPHA:72
Metachromatic Leukodystrophy
Progressive spasticity, Gait disturbance, Dystonia, Neoplasm of the gallbladder, Frequent falls, ... ORPHA:512
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Joint contracture of the hand, Intestinal lymphangiectasia, Narrow palate, Hyper... OMIM:235510
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Ne... ORPHA:157794
Alternating Hemiplegia Of Childhood
Dystonia, Dysphagia, Rigidity, Choreoathetosis, Gastrointestinal dysmotility, Paroxysmal dyskines... ORPHA:2131
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Hand muscle weakness, Paresthesia, Weakness of facial mu... ORPHA:99956
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Decreased hemoglobin concentration, Rhabdomyolysis, Tremor, Ataxia, Reticulocytosis, He... ORPHA:713
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Tremor, Ataxia, Rhabdomyolysis, Depression, Hematochezia ORPHA:79095
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
O'Sullivan-Mcleod Syndrome
Hand muscle weakness, Fasciculations, Tremor, Intrinsic hand muscle atrophy, Upper limb muscle we... ORPHA:99965
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Dysphagia, Inertia, Rigidity, Anxiety, Dysmetria, Bradykinesia, Intention tremo... ORPHA:93256
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear/anxiety-related behavior, Ankle flexion contracture, Limb muscle weakness, Apathy, ... ORPHA:100924
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Neoplasm of the rectum, Neoplasm of the stomach, Neopla... ORPHA:44890
Typhoid
Splenomegaly, Tremor, Ataxia, Hypertonia, Gastrointestinal hemorrhage, Lethargy ORPHA:99745
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Polyphagia, Failure t... ORPHA:95427
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Lymphadenopathy, Neoplasm of the liver, Intestinal bleed... ORPHA:424016
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment ORPHA:3124
Classic Phenylketonuria
Self-injurious behavior, Paraplegia, Tremor, Hypertonia, Hemiplegia, Attention deficit hyperactiv... ORPHA:79254
Niemann-Pick Disease Type C
Clumsiness, Aplasia/Hypoplasia of the abdominal wall musculature, Cataplexy, Bone-marrow foam cel... ORPHA:646
Non-Syndromic Posterior Hypospadias
Cleft palate, Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Ana... ORPHA:95706
Gm1 Gangliosidosis
Dystonia, Dysphagia, Gait disturbance, Aplasia/Hypoplasia of the abdominal wall musculature, Macr... ORPHA:354
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Gait ataxia, Difficulty walking ORPHA:529665
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Limb tremor, Tremor,... OMIM:218000
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Juvenile gastrointestinal polyposis, Neoplasm of the rectum, Stomach cancer... ORPHA:480536
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Hypertonia, Neutropenia OMIM:617248
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
High palate, Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia OMIM:618056
Young-Onset Parkinson Disease
Dystonia, Gait imbalance, Rigidity, Apathy, Bradykinesia, Tremor, Spasticity, Impulsivity, Panic ... ORPHA:2828
Dystonia 26, Myoclonic
Torticollis, Myoclonus, Laryngeal dystonia, Depression, Anxiety, Blepharospasm OMIM:616398
Hepatocellular Carcinoma
Thrombocytosis, Esophageal varix, Polycythemia, Weight loss, Anemia, Abnormal rectum morphology, ... ORPHA:88673
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Tremor, Narrow palate, EMG: myopathic abnormalities ORPHA:457365
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Hypermanganesemia With Dystonia 1
Dystonia, Rigidity, Polycythemia, Steppage gait, Abnormality of extrapyramidal motor function, Br... OMIM:613280
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Anemia, Tremor, Hypertonia, Cryptorchidism ORPHA:1192
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Tremor, Increased variability in muscle fiber diameter, L... ORPHA:397744
Parkinson Disease 20, Early-Onset
Dystonia, Dysphagia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Duodenal ulcer, Kinetic tremor OMIM:190310
Pediatric-Onset Graves Disease
Mood swings, Polydipsia, Goiter, Polyphagia, Neutropenia in presence of anti-neutropil antibodies... ORPHA:525731
Dubowitz Syndrome
Acute lymphoblastic leukemia, Hypoparathyroidism, Rectal prolapse, High palate, Anemia, Malabsorp... ORPHA:235
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Perineal fistula, Microgastria, Rectovaginal fistula, Failure to thriv... ORPHA:2538
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Ddost-Cdg
Tremor, Oromotor apraxia, Gastroesophageal reflux, Failure to thrive ORPHA:300536
Early-Onset Schizophrenia
Unhappy demeanor, Polyphagia, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotio... ORPHA:96369
Radio-Tartaglia Syndrome
High, narrow palate, Dysphagia, High palate, Gait imbalance, Aggressive behavior, Stereotypy, Tre... OMIM:619312
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Increased body weight, Lethargy ORPHA:276608
Supranuclear Palsy, Progressive, 1
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Apathy, Bradykinesia, Retroc... OMIM:601104
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Cystathioninuria
Tremor ORPHA:212
Myoclonic-Astatic Epilepsy
Tremor, Ataxia, Hyperactivity, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... ORPHA:1942
Alexander Disease
Gait disturbance, Clonus, Dysphagia, High palate, Failure to thrive, Chorea, Self-injurious behav... ORPHA:58
Sialidosis Type 1
Gait disturbance, Skeletal muscle atrophy, Myoclonus, Splenomegaly, Tremor, Ataxia, Slurred speech ORPHA:812
Wolfram Syndrome 1
Testicular atrophy, Dysphagia, Megaloblastic anemia, Sideroblastic anemia, Tremor, Ataxia, Thromb... OMIM:222300
Sneddon Syndrome
Tremor, Facial palsy, Hemiplegia OMIM:182410
Triosephosphate Isomerase Deficiency
Dystonia, Myopathy, Normocytic anemia, Skeletal muscle atrophy, Normochromic anemia, Cholelithias... OMIM:615512
Oculopharyngodistal Myopathy 1
Dysphagia, High palate, Autophagic vacuoles, Weight loss, Facial palsy, EMG: myopathic abnormalit... OMIM:164310
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Failure to thrive, P... OMIM:613179
Hyperlysinemia
Clumsiness, Dysphagia, High palate, Opisthotonus, Poor motor coordination, Dysmetria, Failure to ... ORPHA:2203
Kohlschutter-Tonz Syndrome-Like
Lactose intolerance, Dysphagia, Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereoty... OMIM:619229
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Myoclonus, Blepharospasm OMIM:607876
Williams Syndrome
Rectal prolapse, Gait imbalance, Abnormal gastric mucosa morphology, Anxiety, Gait disturbance, D... ORPHA:904
Tetanus
Dysphagia, Opisthotonus, Rigidity, Spasticity of pharyngeal muscles, Tremor, Hypertonia ORPHA:3299
Non-Functioning Paraganglioma
Tremor, Weight loss, Vocal cord paralysis, Panic attack ORPHA:94080
Serotonin Syndrome
Clonus, Rigidity, Myoclonus, Tremor, Hypertonia, Irritability, Anxiety, Rhabdomyolysis ORPHA:43116
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Failure to thrive OMIM:220111
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Babinski sign, Gait disturbance, Tremor, Tip-toe gait, Spastic paraplegia ORPHA:83629
Citrullinemia Type Ii
Hepatocellular carcinoma, Decreased body mass index, Aggressive behavior, Abnormal eating behavio... ORPHA:247585
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Pseudobulbar paralysis, Hepatocellular carcinoma, Respir... ORPHA:79276
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Perineal fistula, Rectal atresia, Anal atresia ORPHA:3016
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Skeletal muscle atrophy, Failure to thrive, Intestinal malrotation, Tr... ORPHA:94063
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Abnormality of the anus, Abnormal testis morp... ORPHA:2556
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Tremor, Hypertonia, Flexion contracture, Cryptorchidism OMIM:608093
Vici Syndrome
Myopathy, Cleft palate, Failure to thrive, Left ventricular hypertrophy, Decreased proportion of ... OMIM:242840
Joubert Syndrome With Renal Defect
Gait disturbance, Cleft palate, Aganglionic megacolon, Tremor, Oculomotor apraxia, Ataxia ORPHA:220497
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux OMIM:613177
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Spastic gait, Abnormality of pain sensation, Spastic dysarthria, Falls, Tremor, Im... ORPHA:447753
X-Linked Intellectual Disability, Cabezas Type
Cachexia, High palate, Aggressive behavior, Tremor, Hyperactivity, Broad-based gait, Camptodactyl... ORPHA:85293
Cystic Fibrosis
Rectal prolapse, Failure to thrive, Hepatosplenomegaly, Steatorrhea, Meconium ileus, Ileus OMIM:219700
Li-Fraumeni Syndrome
Colorectal polyposis, Ovarian neoplasm, Acute lymphoblastic leukemia, Neoplasm of the rectum, Sto... ORPHA:524
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Arthrogryposis multiplex congenita, Splenomegaly, Microcolon, Ataxia, Spas... ORPHA:163746
Leprechaunism
Megarectum, Rectal prolapse, Skeletal muscle atrophy, Failure to thrive, Enlarged ovaries, Decrea... ORPHA:508
Unilateral Polymicrogyria
Involuntary movements, Pseudobulbar paralysis, Myoclonus, Spastic tetraplegia, Hemiparesis, Poor ... ORPHA:268943
Joubert Syndrome
Gait disturbance, Aganglionic megacolon, Tremor, Oculomotor apraxia, Ataxia ORPHA:475
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Sézary Syndrome
Skeletal muscle atrophy, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Tremor ORPHA:3162
Wilson Disease
Dystonia, Dysphagia, Hypoparathyroidism, Esophageal varix, Poor motor coordination, Hepatocellula... OMIM:277900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cleft palate, High palate, Choreoathetosis, Congenital diaphragmatic hernia, Large for gestationa... OMIM:614080
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Failure to thrive, Aggressive behavior, Self-mutilation, Stereotypy, Tremor, Attenti... ORPHA:476126
Amyloidosis, Hereditary, Transthyretin-Related
Paraplegia, Hemiparesis, Tremor, Ataxia, Spasticity OMIM:105210
Chediak-Higashi Syndrome
Gait disturbance, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutro... OMIM:214500
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Tick-Borne Encephalitis
Paralysis, Leukocytosis, Dysphagia, Skeletal muscle atrophy, Leukopenia, Facial palsy, Speech apr... ORPHA:297
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Adenocarcinoma of th... ORPHA:447877
Non-Syndromic Anorectal Malformation
Ectopic anus, Rectovaginal fistula, Anal atresia, Anorectal anomaly, Rectourethral fistula, Persi... ORPHA:557
Joubert Syndrome With Ocular Defect
Gait disturbance, Cleft palate, Aganglionic megacolon, Tremor, Oculomotor apraxia, Ataxia ORPHA:220493
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Vocal cord paralysis, Tremo... ORPHA:276621
Intrahepatic Cholestasis Of Pregnancy
Tremor, Abnormal pineal melatonin secretion, Depression, Small for gestational age ORPHA:69665
Williams-Beuren Syndrome
Failure to thrive in infancy, Rectal prolapse, Gait imbalance, Celiac disease, Poor coordination,... OMIM:194050
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Thrombocytopenia, Abnormality of extrapyramidal motor function, Bone marrow hypocellula... OMIM:612199
Kallmann Syndrome
Gait disturbance, Cleft palate, Paraplegia, Tremor, Ataxia, Anterior hypopituitarism, Obesity, Cr... ORPHA:478
48,Xxxy Syndrome
Cleft palate, Anxiety, Tremor, Attention deficit hyperactivity disorder, Abnormal aggressive, imp... ORPHA:96263
Ataxia-Telangiectasia
Dystonia, Choreoathetosis, Leukemia, Hypoplasia of the thymus, Myoclonus, Tremor, Ataxia, Decreas... OMIM:208900
Japanese Encephalitis
Paralysis, Dystonia, Opisthotonus, Weakness due to upper motor neuron dysfunction, Skeletal muscl... ORPHA:79139
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Ataxia, Tetraparesis OMIM:617186
Intellectual Developmental Disorder, X-Linked, Syndromic 33
High, narrow palate, Gait disturbance, Dystonia, Gait imbalance, Tremor, Ataxia, Spastic diplegia... OMIM:300966
Methylmalonic Aciduria, Cbla Type
Neutropenia, Failure to thrive, Anemia, Tremor, Pancytopenia, Thrombocytopenia, Lethargy OMIM:251100
Orofaciodigital Syndrome Type 4
High, narrow palate, Perineal fistula, Cleft palate, Rectovaginal fistula, Failure to thrive, Bif... ORPHA:2753
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Skeletal muscle atrophy, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism OMIM:146500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Failure to thrive, Intention tremor, Tremor, Ataxia, Cryptorchidism OMIM:614052
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Gastrointestinal atresia, Intestinal malrotation, Abnormality of the du... ORPHA:436252
Scrub Typhus
Tremor, Lethargy, Lymphadenopathy, Splenomegaly ORPHA:83317
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Pancreatic adenocarcinoma, Duodenal adenoc... ORPHA:454840
Neuroleptic Malignant Syndrome
Leukocytosis, Dysphagia, Thrombocytosis, Chorea, Oculogyric crisis, Extrapyramidal muscular rigid... ORPHA:94093
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Gait disturbance, Failure to thrive, Anemia, Lower... ORPHA:90321
African Trypanosomiasis
Impaired proprioception, Abnormal prolactin level, Paresthesia, Lymphadenopathy, Apathy, Fascicul... ORPHA:3385
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Tremor, Hypertonia, Irritability, Parkinsonism, Oculogyric crisis ORPHA:1578
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Vocal cord paralysis, Tremo... ORPHA:29072
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Pineal cyst, Right ventricular hypertrophy, Aggressive behavior, Slender bui... OMIM:300967
Orofaciodigital Syndrome Type 6
Gait disturbance, Cleft palate, High palate, Hamartoma of tongue, Failure to thrive, Tongue nodul... ORPHA:2754
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Gait disturbance, Neutropenia, Pancytopenia, Thrombocyto... ORPHA:167
Microphthalmia, Syndromic 1
Pyloric stenosis, High, narrow palate, High palate, Rectal prolapse, Aganglionic megacolon, Aggre... OMIM:309800
Coffin-Lowry Syndrome
High palate, Decreased body weight, Rectal prolapse, Narrow palate OMIM:303600
Early Infantile Epileptic Encephalopathy
Dystonia, Cleft palate, Choreoathetosis, Failure to thrive, Self-injurious behavior, Myoclonus, T... ORPHA:1934
Thyrotoxic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Weight loss, Increased intramyocellular lipid drople... ORPHA:79102
Gabriele-De Vries Syndrome
Dystonia, Distal arthrogryposis, High palate, Small for gestational age, Facial hypotonia, Esopha... ORPHA:506358
Dpagt1-Cdg
Failure to thrive, Aggressive behavior, Anemia, Tremor, Stereotypical body rocking, Hypertonia, A... ORPHA:86309
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Intestinal pseudo-obstruction, Microcolon OMIM:155310
Joubert Syndrome With Hepatic Defect
Gait disturbance, Neoplasm of the liver, Splenomegaly, Tremor, Oculomotor apraxia, Ataxia ORPHA:1454
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Dystonia, Myositis, Abnormality of extrapyramidal motor function, Ext... ORPHA:51
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Clonus, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers OMIM:619424
Pyruvate Carboxylase Deficiency
Dystonia, Failure to thrive, Apathy, Tremor, Ataxia, Tip-toe gait, Abnormal pyramidal sign, Recur... ORPHA:3008
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granuloma... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granuloma... OMIM:233710
Gaucher Disease
Dysphagia, Abnormality of extrapyramidal motor function, Anemia, Arthrogryposis multiplex congeni... ORPHA:355
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granuloma... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granuloma... OMIM:233690
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Intestinal malrotation, Hypoperistalsis, Abnormality of the gastrointestinal tract, Cryptorchidis... ORPHA:2241
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Ataxia, Rhabdomyolysis, Dystonia OMIM:610505