Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ankyrin-repeat and fibronectin type III domain containing 1
Synonyms:
4932411E22Rik,  LOC382543,  mWAKE,  nmf9

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 Ankfn1 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 Ankfn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Jerky head movements, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, L... ORPHA:251282
Primary Dystonia, Dyt13 Type
Jerky head movements, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Jerky head movements, Limb apraxia, Apraxia, Memory impairment, Progressive extrapy... ORPHA:240103
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Abnormality of extrapyramidal motor function, Athetosis, Progressive extra... ORPHA:382
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Memory impairment, Chorea, Tremor, Upper motor neuron dysfunction, Cognit... ORPHA:401901
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Decreased body weight, Short attention span, Unsteady gait, Mot... OMIM:614063
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Spasticity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Huntington Disease-Like 1
Bradykinesia, Jerky head movements, Memory impairment, Chorea, Incoordination, Poor fine motor co... ORPHA:157941
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Dysphagia, Mental dete... ORPHA:309169
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Spasticity, Impulsivity, Gait ataxia, Rigidity, Dystonia, Dysphagia, Clumsiness OMIM:620448
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Compulsive be... ORPHA:216873
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Bruxism, Aggressive behavior OMIM:615493
Migraine, Familial Hemiplegic, 1
Agitation, Confusion, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Falls, Chorea, Inappropriate laughter, Ataxia, Dystonia, Motor stereotypy,... OMIM:619150
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Huntington Disease-Like 3
Broad-based gait, Abnormality of extrapyramidal motor function, Chorea, Extrapyramidal muscular r... ORPHA:157946
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Cognitive impairment, Ataxia OMIM:611105
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Frontotemporal dementia, Memory impairment, Myoclonus, Gai... OMIM:600795
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Motor ster... OMIM:608636
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetrapar... OMIM:615924
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia OMIM:615945
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Myoclonus, Motor deterioration,... ORPHA:79262
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Frontotemporal dementia, Memory impairment, Fascicu... ORPHA:275864
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Obesity, Ataxia, Aggressive behavior OMIM:620270
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Inability to walk, Hyperactivity, Spasticity, Ankle clonus, Spastic tetraplegia OMIM:616657
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Spastic diplegia, Aggressive be... OMIM:617270
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Speech apraxia, Inflexible adherence to routines, Obesity, Failure to thriv... OMIM:613670
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Involuntary movements, Motor stereotypy, Aggressive behavior OMIM:617171
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Failure to thrive, Macrotia, Posteriorly rotated ears, ... OMIM:609425
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Hand tremor OMIM:617862
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Involuntary movements, Dystonia, Motor stereotypy, Self-injurious ... OMIM:617820
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Motor stereotypy, Aggressive behavior OMIM:619470
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Compulsive behaviors, Addictive alcohol use, Myoclonus OMIM:159900
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Short attention span, Impulsivity, Oppositional defiant disorder, ... OMIM:619028
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Torticollis ORPHA:71518
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Gait ataxia, Dystonia, Ataxia, Dysphagia, Parkinsonism, ... OMIM:618093
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Compulsive behaviors, Failure to thrive, Dystonia, Myoclonus OMIM:619651
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chorea, Myoclonus, ... ORPHA:248111
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia, Hearing impairment, Impaired vibratory sensation ORPHA:217012
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia Type 12
Bradykinesia, Limb dysmetria, Tremor by anatomical site, Poor fine motor coordination, Gait distu... ORPHA:98762
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait, Macrotia, Inappropriate laughter, Self-mutilation, Aggr... OMIM:616269
Schizophrenia 15
Hyperactivity OMIM:613950
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Intention tremor, Dystonia, A... OMIM:619725
Foxg1 Syndrome
Hyperkinetic movements, Difficulty walking, Inability to walk, Spasticity, Decreased body weight,... ORPHA:561854
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Spastic diplegia OMIM:617830
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Sensorineural hearing impairment, Tremor... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cognitive impairment, Unsteady ga... OMIM:615768
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Spasticity, Decreased body ... OMIM:617695
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Dysphagia, Progressive neurologic deterioration, Myoclonus, Choreoa... OMIM:261630
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Spasticity, Cerebral palsy, Compulsive behaviors, Phonic tics, Dystonia, Unsteady ... OMIM:301107
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involuntary movements, Dyston... OMIM:618218
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Dementia, Memory impairment, Progressive extrapyramidal mus... ORPHA:454887
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Spasticity, Tremor, Low-set ears, Motor stereotypy, Self-injuri... OMIM:618718
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Frontotemporal dementia, Spasticity, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Ataxia, Incoordination ORPHA:79136
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Confusion, Tremor, Myoclonus, Gait a... OMIM:615362
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Memory impairment, Falls, Tremor, Parkinsonism with favorable response to dopaminer... ORPHA:240085
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria, Aggressive behavior OMIM:276880
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Chorea, Athetosis, Cognitive impairment, Motor tics, Parkinsonism, Dementia, P... OMIM:615483
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Agitation, Hypertonia, Spasticity, Tremor, Dystonia, Unsteady gait, Dysphagia, Moto... OMIM:617435
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Subcortical dementia, Chorea, Spasticity, Tremor, Bl... OMIM:606159
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Mental deterioration, Myoclonus OMIM:616187
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Cogni... OMIM:617145
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Hypertonia, Episodic ataxia OMIM:234500
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Truncal ataxia, Tremor, Gait distur... ORPHA:98764
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Sensorineural hearing impairment, C... ORPHA:363710
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Memory impairment, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance,... OMIM:213600
Atypical Progressive Supranuclear Palsy Syndrome
Inappropriate behavior, Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extra... ORPHA:99750
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Apraxi... ORPHA:3095
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting OMIM:300624
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Spasticity, Tremor, Abnormal pinna morphology, Ataxia, Aggressive behavior OMIM:300983
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Cognitive impairment, Rigidity, ... ORPHA:98763
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Myoclonus, Poor fine motor coordination, Cognitive impairment, Myoclo... ORPHA:79263
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Fragile X Tremor/Ataxia Syndrome
Obsessive-compulsive trait, Bradykinesia, Memory impairment, Resting tremor, Poor fine motor coor... OMIM:300623
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Gait apraxia, Cognitive impairment, Gait ataxia, Ataxia, Dysphagia, Aggressive be... OMIM:615157
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Cogni... OMIM:607346
Huntington Disease-Like 2
Bradykinesia, Memory impairment, Subcortical dementia, Chorea, Action tremor, Rigidity, Dystonia,... OMIM:606438
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Inappropriate laughter, Disinhibition, Motor stereotypy OMIM:172700
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Motor stereotypy OMIM:615282
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Spasticity, Compulsive behaviors, Stereotypical hand wringing, Gait at... OMIM:618917
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Cognitive impairment, Involuntary movements, Gait distu... OMIM:612067
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Dysphagia, Progres... OMIM:261640
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cognitive impairment... OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Hsd10 Disease
Tremor, Short attention span, Gait disturbance, Hearing impairment, Rigidity, Ataxia, Dysphagia, ... ORPHA:391417
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Paroxysmal dystonia, Oculomotor apraxia, Dystonia, Ataxia, Generalized dyst... OMIM:245348
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Pelizaeus-Merzbacher Disease
Writer's cramp, Inability to walk, Broad-based gait, Tremor, Cognitive impairment, Spastic parapl... OMIM:312080
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Re... OMIM:620482
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Dysphagia, Parkinsonism OMIM:128235
Mohr-Tranebjaerg Syndrome
Babinski sign, Prelingual sensorineural hearing impairment, Oromandibular dystonia, Generalized d... ORPHA:52368
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Stereotypical hand wringing, Gait distu... OMIM:614104
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Spasticity, Difficulty walking, Motor stereotypy OMIM:617393
Landau-Kleffner Syndrome
Steppage gait, Memory impairment, Hyperactivity, Short attention span, Impulsivity, Gait ataxia, ... ORPHA:98818
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Cerebral palsy, Slender build, Motor stereotypy, ... OMIM:617600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, Hyperactivity,... ORPHA:3077
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Spasticity, Tremor, Hearing ... OMIM:609260
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Lennox-Gastaut Syndrome
Falls, Hyperactivity, Myoclonus, Mental deterioration, Aggressive behavior ORPHA:2382
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Limb hypertonia, Hyperactivity, Chorea, Abnormality of extrapyramidal motor fu... ORPHA:500180
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Difficulty walking, Spastic dysarthria, Spasticity, Waddling gait, Dystonia, Motor... ORPHA:280763
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Protruding ear, Hyperactivity, Sensorineural hearing impairment, Tremor, Decreased body weight, S... OMIM:618342
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal pyr... ORPHA:247815
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Memory impairment, Truncal ataxia, Spasticity, Tremor, Myoclo... OMIM:137440
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Difficulty walking, ... ORPHA:206443
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Hyperactivity, Spasticity, Low-set ears, Compulsive behaviors, Cerebral palsy, Repeti... ORPHA:352490
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Memory impairment, Tremor, Ataxia, Loss of ambulation, Myoclonus OMIM:614018
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio... OMIM:607454
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Tremor, Low-set ears, Gait ataxia, Ataxia, Large fleshy e... OMIM:619092
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis, Aggressive... ORPHA:329284
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Tremor, Low-set ears, Failure to thrive, Macrotia, Antalgic gait, Tetraparesis, Aggre... OMIM:620546
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Perry Syndrome
Inappropriate behavior, Bradykinesia, Akinesia, Frontotemporal dementia, Tremor, Rigidity, Dyston... OMIM:168605
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Spasticity, Tremor, Impulsivity, Involuntary movements, Fail... ORPHA:442835
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Dementia, Tongue fasciculations, Tremor, Frequent falls, Dysphagia, Myoclonus OMIM:159950
Spinocerebellar Ataxia 50
Apraxia, Memory impairment, Chorea, Head tremor, Action tremor, Hearing impairment, Ataxia, Myocl... OMIM:620158
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Failure to thrive, Ataxia, Large fleshy ears, Attention de... OMIM:619556
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Unsteady gait, Self-mu... OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Short attention span, Obesity, Inappropriate laughte... ORPHA:411515
Childhood Disintegrative Disorder
Motor deterioration, Progressive language deterioration, Motor stereotypy, Dementia, Mental deter... ORPHA:168782
X-Linked Adrenoleukodystrophy
Paralysis, Progressive spastic paraparesis, Hyperactivity, Incoordination, Clumsiness, Progressiv... ORPHA:43
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Dysphagia, Loss of ambulation, Dysmetria OMIM:617916
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... OMIM:300055
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Chorea, Dystonia, Ataxia, Motor stereotypy, Myoclonus,... OMIM:619317
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis, ... OMIM:300894
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Memory impairment, Hyperactivity, Slowed slurr... OMIM:619827
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Frontotemporal dementia, Axial dystonia, Res... OMIM:612953
Phenylketonuria
Lower limb spasticity, Tremor, Short attention span, Ataxia, Dementia ORPHA:716
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Myoclonus, Aggressive behavior OMIM:605899
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Hyperactivity, Spasticity, Tremor, Poor motor coordination... ORPHA:363400
Xq28 (MECP2) duplication
Inability to walk, Progressive spasticity, Gait ataxia, Failure to thrive, Macrotia, Dysphagia, M... DECIPHER:45
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Poor motor coordination, Cognitive impairment, Progressive language... ORPHA:79264
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Dysphagia, P... OMIM:619738
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Impai... OMIM:208920
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Spasticity, Gait ataxia, Failure to thrive, Crouch gait, Myoclonus OMIM:620145
Christianson Syndrome
Truncal ataxia, Cachexia, Gait ataxia, Macrotia, Inappropriate laughter, Dystonia, Dysphagia, Mot... ORPHA:85278
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Jerky head movements, Punding, Limb myoclonus ORPHA:64280
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder, Aggres... OMIM:301029
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Tongue thrusting, Limb hypertonia, Recurrent hand flapping, Short attention sp... OMIM:619580
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro... ORPHA:137898
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Senso... OMIM:302800
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Bilateral sensorineural hearing impairment, Dystonia, Ataxia, Dysphagia, Choreoathetosis,... OMIM:619422
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Developmental Delay, Language Impairment, And Ocular Abnormalities
Apraxia, Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention defici... OMIM:620141
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Spast... OMIM:304700
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Tremor, Recurrent hand flapping, Antev... ORPHA:544254
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Spasticity, Progressive language deterioration, Ataxia, Motor stereotypy, Attentio... OMIM:610042
Generalized Epilepsy With Febrile Seizures-Plus
Obsessive-compulsive trait, Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, C... ORPHA:36387
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment, Ataxia ORPHA:101075
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Abnormal head movements ORPHA:139431
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Cognitive impairment, Rigidity, Ataxia, Dementia, Somatic sensory dysfu... OMIM:603472
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Paraplegia, Confusion, Cognitive impairment, Failure to thrive, Ataxia, Delirium, Moto... ORPHA:927
Rett Syndrome
Bradykinesia, Agitation, Difficulty walking, Limb apraxia, Inability to walk, Stereotypical hand ... ORPHA:778
Classic Phenylketonuria
Hypertonia, Memory impairment, Paraplegia, Tremor, Motor deterioration, Hemiplegia, Attention def... ORPHA:79254
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Poor fine motor coordination, Short attention span, Failure to thrive, Motor stere... OMIM:620242
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Sensorineural hearing impairment, G... OMIM:610185
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Lower limb spasticity, Hyperactivity, Chorea, Low-set ears, Waddling gait, Impulsivity, Gait atax... OMIM:620445
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Tremor, Gait disturbance, Macrotia, Upper limb spasticity, Motor stereoty... ORPHA:457240
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Inability to walk, Cortical myoclonus, Hyperactivity, Spasticity, Myo... ORPHA:168491
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Cognitive impairment, R... ORPHA:70594
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Difficulty walking, Inability to walk, Oculomotor apraxia, Memory impairment, Hype... ORPHA:139396
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Memory impairment, Resting tremor, Spa... ORPHA:247234
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Inability to walk, Tremor, Dysphagia, Somatic sen... ORPHA:90117
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin... ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment, Ataxia ORPHA:101078
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Cognitive impairment, Dystonia, Ataxia, Abnormal pyramidal ... ORPHA:542310
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Subcortical dement... ORPHA:157846
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Low-set ears, Spastic paraplegia, Fa... ORPHA:477673
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Progressive neu... ORPHA:254881
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Progressive psychomotor deterioration, Oculomotor apraxia, Spasticity, Tremor, Poor motor coordin... ORPHA:1170
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination OMIM:617182
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Sneddon Syndrome
Memory impairment, Chorea, Tremor, Hemiparesis, Dementia, Mental deterioration ORPHA:820
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Dysphagia, Progressive neuro... OMIM:233910
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor, Memory impairment ORPHA:79234
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Babinski sign, Hypertonia, Hyperactivity, Chorea, Spasticity, Dysdiadochokinesis, S... OMIM:610217
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Confusion, Craniofacial... OMIM:607483
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:614298
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Sensorineural hearing impairment, Tremor, Adult onset sensorineural hearing impairmen... ORPHA:1368
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Obes... OMIM:301013
Progressive Supranuclear Palsy
Bradykinesia, Memory impairment, Falls, Tremor, Blepharospasm, Impulsivity, Cognitive impairment,... ORPHA:683
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
Young-Onset Parkinson Disease
Bradykinesia, Agitation, Gait imbalance, Spasticity, Tremor, Short attention span, Impulsivity, C... ORPHA:2828
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Sensorineural hearing impairment, Impaired distal vibration sensation, Cognitive im... ORPHA:99027
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypertonia, Recurrent hand flapping, Compulsive behaviors, Gait disturbance, Failure to thrive, A... OMIM:300986
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Pain insensitivity, Motor stereotypy, Attention deficit hyperactivity... OMIM:618825
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hypertonia, Inability to walk, Hyperactivity, Rigidity, Self-injurious behavior, Choreoathetosis,... OMIM:620023
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Obesi... OMIM:600430
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Hearing impairment, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:139485
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Spastic gait, Babinski sign, Scissor gait, Truncal ataxia, Motor stereotypy, Attention deficit hy... OMIM:619121
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Limb hypertonia, Inability to walk, Chorea, Macrotia, Hemiparesis, Dystonia,... OMIM:618004
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi... ORPHA:96
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Lower limb spasticity, Hyperactivity, Cerebral palsy, Stereotypical han... ORPHA:163681
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Involuntary movements, Cognitive impairment, Motor stereotypy, Attention def... ORPHA:98784
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Compulsive behaviors, Ataxia, Unsteady gait, Dysmetria OMIM:619405
Oromandibular Dystonia
Hyperkinetic movements, Torticollis, Lingual dystonia, Blepharospasm, Limb dystonia, Laryngeal dy... ORPHA:93958
Riboflavin Transporter Deficiency
Cachexia, Progressive hearing impairment, Tremor, Ataxia, Dysphagia, Myoclonus, Aggressive behavior ORPHA:97229
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... ORPHA:75567
Saccharopinuria
Distal sensory impairment, Tremor, Gait ataxia, Cognitive impairment, Mental deterioration, Spast... ORPHA:3124
Smith-Magenis Syndrome
Abnormal middle ear morphology, Hyperactivity, Head-banging, Impaired pain sensation, Self huggin... OMIM:182290
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Spasticity, Low-set ears, Compulsive behaviors, Obesity, Ataxia, Posteriorly rotat... OMIM:618430
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Oculogyric crisis, Oral-pharyngeal dysphagia, Spasticity... ORPHA:208447
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hypertonia, Tongue thrusting, Broad-based gait, Hyperactivity, Progressive spasticity, Failure to... OMIM:617865
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
New-Onset Refractory Status Epilepticus
Abnormal head movements, Confusion, Cognitive impairment ORPHA:363558
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Agitation, Tremor, Progressive neurologic deterioration ORPHA:276608
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts o... ORPHA:228402
Infantile Neuroaxonal Dystrophy
Hyperactivity, Spasticity, Progressive spasticity, Spastic tetraparesis, Short attention span, Im... ORPHA:35069
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Intellectual Developmental Disorder, X-Linked 30
Agitation, Hyperactivity, Short attention span, Macrotia, Restlessness, Clumsiness, Aggressive be... OMIM:300558
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Lower limb spasticity, Chorea, Progressive spasticity, Decreased body weight, ... OMIM:300260
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Spasticity, Hearing impairment, Aggressive behavior ORPHA:457260
Cerebral Creatine Deficiency Syndrome 1
Hypertonia, Underfolded superior helices, Broad-based gait, Spasticity, Gait disturbance, Speech ... OMIM:300352
Cri-Du-Chat Syndrome
Hypertonia, Difficulty walking, Hyperactivity, Abnormal pinna morphology, Low-set ears, Short att... OMIM:123450
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Tetraplegia, Hearing impairment, Failure to thrive, Abnormal pyramidal sign, Aggre... ORPHA:369939
Hyperlysinemia, Type I
Hyperactivity, Dysdiadochokinesis, Short attention span, Cognitive impairment, Clumsiness OMIM:238700
Optic Atrophy 11
Hyperkinetic movements, Hyperactivity, Athetosis, Gait apraxia, Hearing impairment, Macrotia, Ste... OMIM:617302
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss, Dementia ORPHA:178509
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Dysphagia, Loss of ambulation, Postural trem... OMIM:607694
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Dementia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Dystonia, Los... OMIM:168601
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Agitation, Akinesia, Resting tremor, Parkinsonism with favorable response to dopami... ORPHA:411602
Rett Syndrome
Truncal ataxia, Spasticity, Cachexia, Gait apraxia, Stereotypical hand wringing, Gait ataxia, Dys... OMIM:312750
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment, Dysphagia OMIM:607734
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Dentici-Novelli Neurodevelopmental Syndrome
Hypertonia, Inability to walk, Hearing impairment, Macrotia, Motor stereotypy OMIM:619877
Hijazi-Reis Syndrome
Lower limb spasticity, Gait disturbance, Motor stereotypy, Ankle clonus OMIM:301094
Proximal 16P11.2 Microdeletion Syndrome
Paroxysmal dyskinesia, Sensorineural hearing impairment, Speech apraxia, Failure to thrive, Obesi... ORPHA:261197
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Spasticity, Decreased body weight, Hearing impairment, Aggressiv... OMIM:300958
Ogden Syndrome
Hypertonia, Torticollis, Low-set ears, Shuffling gait, Macrotia, Abnormal head movements ORPHA:276432
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Hearing impairment, Ataxia ORPHA:99014
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Lower limb spasticity, Hyperactivity, Sensorineural hearing impairment, Clonus, Sp... OMIM:609727
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
48,Xxyy Syndrome
Chronic otitis media, Tremor, Obesity, Ataxia, Motor stereotypy, Attention deficit hyperactivity ... ORPHA:10
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Dysphagia, Parkinsonism, Dementia, Shor... OMIM:168600
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Difficulty walking, Broad-based gait, Spasticity, Gait ataxia, Dystonia, Motor stereotypy, Promin... OMIM:617807
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hearing impairment, Failure to thrive, Motor stereotypy... OMIM:610883
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Prominent ear helix, Motor stereotypy, Myoclonus, Large earlobe ORPHA:411986
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Tremor, Dysphagia, Limb hypertonia OMIM:617162
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Recurrent otitis media, Torticollis, Tremor, Recurrent hand flapping, Speech apraxi... OMIM:619680
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Microtia, Tremor, Compulsive behaviors, Failure to thrive, Attention d... ORPHA:370079
Snijders Blok-Campeau Syndrome
Broad-based gait, Low-set ears, Speech apraxia, Unsteady gait, Motor stereotypy, Attention defici... OMIM:618205
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Rigidity, Ataxia, Dysphagia, Motor tics, Babinski sign, Akinesia, Tremor, Blepharo... OMIM:234200
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Upper motor neuron dysfunction, Ataxia, Motor stereotypy ORPHA:530983
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Radio-Tartaglia Syndrome
Gait imbalance, Tremor, Low-set ears, Impulsivity, Hearing impairment, Conductive hearing impairm... OMIM:619312
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Inability to walk... OMIM:128100
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... OMIM:617808
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
X-Linked Creatine Transporter Deficiency
Hypertonia, Hyperactivity, Chorea, Cachexia, Athetosis, Dystonia, Ataxia, Self-mutilation ORPHA:52503
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608049
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Tremor, Blepharospasm, Cognitive impairment, Ataxia, Myoclonus OMIM:607876
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Short a... ORPHA:449291
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Dysphagia, Abnormal pyramidal ... OMIM:608768
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Niemann-Pick Disease Type C
Chorea, Limb dystonia, Cognitive impairment, Ataxia, Dysphagia, Myoclonus, Clumsiness, Aggressive... ORPHA:646
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy OMIM:618504
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ... OMIM:619574
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Aggressive b... ORPHA:313892
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Lingual dysto... ORPHA:2388
Myopathy With Extrapyramidal Signs
Difficulty walking, Hyperactivity, Chorea, Abnormality of extrapyramidal motor function, Tremor, ... OMIM:615673
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Dementia, Abnormal pyramidal sign OMIM:260540
Brain-Lung-Thyroid Syndrome
Apraxia, Falls, Hyperactivity, Chorea, Incoordination, Sensorineural hearing impairment, Short at... ORPHA:209905
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Pain insensitivity, Attentio... OMIM:617061
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Hyperactivity, Sensorineural hearing impairment, Bil... ORPHA:73272
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Tremor, Athetosis, Dystonia, Ataxia, Spastic tetraplegia, Severe tem... OMIM:617710
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Galloway-Mowat Syndrome 6
Decreased body weight, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Failu... OMIM:300912
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Confusion, Tremor, Spasticity, Sensorineural hearing imp... OMIM:105210
Den Hoed-De Boer-Voisin Syndrome
Agitation, Inability to walk, Lower limb spasticity, Spasticity, Tremor, Decreased body weight, S... OMIM:619229
4Q21 Microdeletion Syndrome
Tremor, Low-set ears, Hearing impairment, Motor stereotypy, Self-injurious behavior ORPHA:238750
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Spasticity, Low-set ears, Gait ataxia, Inappropriate laughter, ... OMIM:103050
Tay-Sachs Disease
Inability to walk, Memory impairment, Fasciculations, Incoordination, Decerebrate rigidity, Tremo... ORPHA:845
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment, Decreased body weight, Short attention span OMIM:608747
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Babinski sign, Memory impairment, Resting tremor, Sensorineural hearing impairment, Spasticity, H... ORPHA:314404
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Inability to walk, Motor stereotypy OMIM:613443
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Dysphagia OMIM:224500
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Clumsiness, Compulsive behaviors, Diminished ability to concentrate, Macrotia,... OMIM:615656
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy ORPHA:85277
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Myoclonic-Astatic Epilepsy
Hyperactivity, Tremor, Ataxia, Abnormal pyramidal sign, Unsteady gait, Attention deficit hyperact... ORPHA:1942
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Dysphagi... OMIM:614381
Xeroderma Pigmentosum, Complementation Group F
Tremor, Decreased body weight, Hearing impairment, Ataxia, Dementia OMIM:278760
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Gait disturb... OMIM:616586
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, Motor stereotypy, Broad-based gait OMIM:616351
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Compulsive behaviors, Gait ataxia, Failure to thrive, Motor stereotypy, Attention deficit... ORPHA:476126
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Poor fine motor coordination, Decreased body weight, Short attention span, Speech ... ORPHA:589821
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Asymmetry of the ears, Hyperactivity, Sensorineural hearing impairmen... OMIM:617796
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Memory impairment, Chorea, Tremor, Blepharospasm, Craniofacia... ORPHA:48818
Ritscher-Schinzel Syndrome 4
Chorea, Athetosis, Impulsivity, Macrotia, Ataxia, Dysphagia, Motor stereotypy, Aggressive behavior OMIM:619435
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... OMIM:618027
Rett Syndrome, Congenital Variant
Tongue thrusting, Apraxia, Chorea, Spasticity, Athetosis, Dystonia, Motor stereotypy, Protruding ... OMIM:613454
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypertonia, Cerebral palsy, Impulsivity, Motor stereotypy, Self-injurious behavior, Cupped ear, A... OMIM:618914
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior ORPHA:3306
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Memory impairment, Abnormality of pain sensation... ORPHA:447753
Migraine, Familial Hemiplegic, 2
Apraxia, Confusion, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria OMIM:602481
Hyperlysinemia
Tip-toe gait, Hypoplastic helices, Neck hypertonia, Hyperactivity, Tremor, Spastic tetraparesis, ... ORPHA:2203
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Cognitive impairment, Rigidity... ORPHA:25
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Spasticity, Dysphagia, Motor stereotypy, Involuntary movements ORPHA:572013
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Dementia, Abnormal p... OMIM:616840
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Motor stereotypy, Head tremor OMIM:619428
Smith-Magenis Syndrome
Chronic otitis media, Impaired pain sensation, Gait disturbance, Failure to thrive in infancy, Ob... ORPHA:819
Alternating Hemiplegia Of Childhood
Anorexia, Paroxysmal dyskinesia, Oral-pharyngeal dysphagia, Oculomotor apraxia, Chorea, Tremor, I... ORPHA:2131
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Oromandibular dystonia, Microtia, Tremor, Compulsive behaviors, Hearing impairment, Failure to th... OMIM:620494
Insulinoma
Abnormality of pain sensation, Transient global amnesia, Increased body weight, Tremor, Polyphagi... ORPHA:97279
Serotonin Syndrome
Agitation, Hypertonia, Confusion, Tremor, Myoclonus, Clonus, Rigidity, Delirium, Restlessness, Me... ORPHA:43116
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Incoordination, Low-set ears, Gait ataxia, Motor stereotypy, Overfriendl... OMIM:616579
22Q11.2 Duplication Syndrome
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:1727
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor, Impaired distal vibrati... OMIM:606002
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Spasticity, Gait ataxia, Macrotia, Motor stereotypy, Self-mutilation OMIM:300486
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Dysphagia OMIM:313200
Adult-Onset Distal Myopathy Due To Vcp Mutation
Difficulty walking, Fasciculations, Tremor, Frequent falls, Parkinsonism, Progressive neurologic ... ORPHA:329478
Angelman Syndrome
Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flap... ORPHA:72
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior ORPHA:391307
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Frontotemporal dementia, Spasticity, Parkinsonism with favorable response to dopami... ORPHA:199351
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Cystinosis
Polydipsia, Gait disturbance, Failure to thrive, Motor stereotypy, Abnormal pyramidal sign ORPHA:213
Niemann-Pick Disease, Type C2
Spasticity, Cataplexy, Dystonia, Ataxia, Dysphagia, Motor stereotypy, Dementia OMIM:607625
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Oculomotor apraxia, Inability to walk, Sensorineural hearing impairment, Spasticity,... ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ster... OMIM:617751
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... ORPHA:319671
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Cerebral palsy, Impulsivity, Cognitive impairment, Head titubation, Ataxia, Bruxis... OMIM:619475
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Hyperactivity, Sensorineural hearing impairment, Spasticity, Cerebral palsy, Ataxia, ... ORPHA:760
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response,... OMIM:618056
Chromosome 5P13 Duplication Syndrome
Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Self-injurious be... OMIM:613174
Houge-Janssens Syndrome 3
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy OMIM:618354
Developmental And Epileptic Encephalopathy 66
Motor stereotypy, Broad-based gait OMIM:618067
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Motor stereo... OMIM:617802
Metachromatic Leukodystrophy
Tip-toe gait, Addictive behavior, Incoordination, Decerebrate rigidity, Tremor, Progressive spast... ORPHA:512
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Hypertonia, Spasticity, Failure to thrive, Macrotia, Inappropriate laughter, Motor... OMIM:615802
Citrullinemia Type Ii
Decreased body mass index, Memory impairment, Hyperactivity, Confusion, Tremor, Restlessness, Del... ORPHA:247585
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Short atten... OMIM:619575
Congenital Disorder Of Glycosylation, Type Iia
Hypertonia, Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Failure ... OMIM:212066
Nmda Receptor Encephalitis
Agitation, Oculogyric crisis, Memory impairment, Chorea, Confusion, Myoclonus, Short attention sp... ORPHA:217253
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy ORPHA:529965
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Hyperactivity, Spasticity, Tremor, Frequent falls, Dystoni... OMIM:612716
Supranuclear Palsy, Progressive, 1
Bradykinesia, Akinesia, Gait imbalance, Memory impairment, Axial dystonia, Retrocollis, Frontolim... OMIM:601104
Hydroxykynureninuria
Hypertonia, Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Ataxia, Motor stereotypy ORPHA:435638
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Posteriorly rotated ears, Motor stereotypy, Overfriendliness, Attention deficit hyp... OMIM:619293
White-Sutton Syndrome
Hyperactivity, Sensorineural hearing impairment, Bilateral sensorineural hearing impairment, Tics... OMIM:616364
Transketolase Deficiency
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:488618
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Congenital... ORPHA:500159
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Low-set ears, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperac... OMIM:619103
Pilarowski-Bjornsson Syndrome
Speech apraxia, Motor stereotypy OMIM:617682
Rauch-Steindl Syndrome
Hyperactivity, Attached earlobe, Prominent crus of helix, Failure to thrive, Motor stereotypy, Pr... OMIM:619695
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Low-set ears, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressiv... OMIM:616393
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Macrotia, Dystonia, A... ORPHA:496641
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Weight loss, Hand tremor, Small for gestational age ORPHA:424
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy... OMIM:617675
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Hyperkinetic movements, Athetoid cerebral palsy, Chorea, Dystonia, Ataxia, Repetit... ORPHA:522077
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Limb hypertonia, Sensorineural hearing impairment, Spasticity, Limb dystonia, ... ORPHA:457351
2Q37 Microdeletion Syndrome
Compulsive behaviors, Conductive hearing impairment, Obesity, Motor stereotypy, Attention deficit... ORPHA:1001
Joubert Syndrome 6
Oculomotor apraxia, Ataxia, Motor stereotypy OMIM:610688
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Spasticity, Tremor, Rigidity, Progressive neurologic deterioration, Dementia OMIM:176500
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Hair-pulling, Lower limb spasticity, Hyperactivity, Low-set ears, Myoclonic spasms, C... ORPHA:447997
Mercury Poisoning
Anorexia, Confusion, Tremor, Dystonia ORPHA:330021
Phelan-Mcdermid Syndrome
Tongue thrusting, Broad-based gait, Impaired pain sensation, Hearing impairment, Macrotia, Unstea... OMIM:606232
Kleefstra Syndrome 1
Abnormal pinna morphology, Compulsive behaviors, Hearing impairment, Obesity, Motor stereotypy, A... OMIM:610253
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low-set ears, Ataxia, Unsteady gait, Motor stereotypy, Aggressive behavior ORPHA:457279
Tick-Borne Encephalitis
Anorexia, Hyperkinetic movements, Tongue fasciculations, Incoordination, Tremor, Diminished abili... ORPHA:297
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Sensorineural hearing impairment, Ataxia, Motor stereotypy ORPHA:2479
White-Sutton Syndrome
Hyperactivity, Incoordination, Sensorineural hearing impairment, Compulsive behaviors, Obesity, P... ORPHA:468678
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Protruding ear, Broad-based gait, Hyperactivity, Poor gross motor coordination, Low-set ears, Gai... OMIM:614756
Wiedemann-Steiner Syndrome
Hyperactivity, Low-set ears, Short attention span, Failure to thrive, Dysphagia, Motor stereotypy... ORPHA:319182
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Decreased body weight, Motor stereotypy, Attention deficit hyperactivity... OMIM:619005
Bainbridge-Ropers Syndrome
Hypertonia, Inability to walk, Recurrent hand flapping, Low-set ears, Failure to thrive, Posterio... OMIM:615485
Developmental And Epileptic Encephalopathy 2
Inability to walk, Motor stereotypy, Myoclonus OMIM:300672
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Tremor, Cognitive impairment, Obesity, Ataxia, Unsteady gait, Progressive neurolo... OMIM:614947
7Q11.23 Microduplication Syndrome
Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hyperactivi... ORPHA:96121
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Motor stereotypy ORPHA:261144
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Cognitive impairment, Rigidity, Ataxia, Parkinsonism OMIM:146500
Kleefstra Syndrome
Chronic otitis media, Hearing impairment, Obesity, Motor stereotypy, Self-injurious behavior, Thi... ORPHA:261494
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hearing impairment, Jerky head movements, Obesity, Low-set ears ORPHA:369837
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Truncal ataxia, Small earlobe, Low-set ears, Gait ataxia, Speech apraxia, Ataxi... OMIM:617330
Pitt-Hopkins Syndrome
Incoordination, Gait ataxia, Motor stereotypy, Self-injurious behavior, Thickened helices, Cupped... OMIM:610954
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Hyperactivity, Sensorineural hearing impairment, Otosclerosis, Short at... ORPHA:580
Van Esch-O'Driscoll Syndrome
Protruding ear, Spasticity, Microtia, Impulsivity, Motor stereotypy, Attention deficit hyperactiv... OMIM:301030
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Gait disturbance, Failure to thrive, Motor stereotypy, Attention deficit hyperact... ORPHA:464311
African Trypanosomiasis
Somatic sensory dysfunction, Impaired proprioception, Akinesia, Difficulty walking, Paresthesia, ... ORPHA:3385
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behaviors, Frequent tem... OMIM:619512
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Compulsive behaviors, Skin-picking, Obesity, Motor stereo... ORPHA:177907
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypertonia, Hyperkinetic movements, Severe failure to thrive, Low-set, posteriorly rotated ears, ... ORPHA:468631
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Dysphagia, Motor stereotypy, Myoclonus, Choreoathetosis OMIM:619777
Kinsship Syndrome
Spastic tetraparesis, Low-set ears, Failure to thrive, Motor stereotypy, Myoclonus, Bruxism OMIM:619297
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Protruding ear, Hair-pulling, Nail-biting, Broad-based gait, Polyphagia, Fixated interests, Dysto... OMIM:620330
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Low-set ears, Polyphagia, Compulsive behaviors, Failure to thrive, Obesity, Poster... OMIM:615873
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, Short attention span, Obesity, Posteriorly rotated ears, Motor stereotypy... OMIM:301066
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Gait disturbance, Failure to thrive, Macrotia, Motor stereotypy, Protruding ear, S... ORPHA:464306
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Spasticity, Microtia, Low-set ears, Posteriorly rotated ears, M... OMIM:301040
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Abnormal Eustachian tube morphology, Broad-based gait, Gait ataxia, Failu... ORPHA:513456
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Compulsive behav... ORPHA:353281
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypertonia, Opisthotonus, Inability to walk, Motor stereotypy ORPHA:508533
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Low-set ears, Obesity, Motor stereotypy, Overfolded helix OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cupped ear, Hyperactivity, Low-set ears, Hearing impairment, Posteriorly rotated ears, Motor ster... OMIM:309590
Norrie Disease
Hypertonia, Protruding ear, Cachexia, Sensorineural hearing impairment, Abnormal helix morphology... ORPHA:649
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Polyphagia, Gait d... ORPHA:1606
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Gait imbalance, Small earlobe, Underdeveloped tragu... OMIM:616268
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Protruding ear, Low-set, posteriorly rotated ears, Compulsive behaviors, Cl... ORPHA:534
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353277
Primrose Syndrome
Superiorly displaced ears, Tics, Calcification of the auricular cartilage, Hearing impairment, Ma... OMIM:259050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Tremor, Low-set ears, Failure to thrive, Motor stereotypy, Simp... OMIM:612474
Ogden Syndrome
Hypertonia, Recurrent otitis media, Torticollis, Low-set ears, Macrotia, Dysphagia, Motor stereot... OMIM:300855
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Motor stereotypy ORPHA:508498
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypertonia, Spastic tetraparesis, Posteriorly rotated ears, Motor stereotypy, Overfolded helix OMIM:301044
Coffin-Siris Syndrome 12
Protruding ear, Sensorineural hearing impairment, Low-set ears, Failure to thrive, Posteriorly ro... OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Dy... OMIM:619522
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Failure to thrive, Conductive hearin... OMIM:194190
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Motor stereotypy, Aggressive behavior OMIM:309000
Mowat-Wilson Syndrome
Recurrent otitis media, Inability to walk, Broad-based gait, Impaired pain sensation, Sensorineur... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Inability to walk, Broad-based gait, Impaired pain sensation, Sensorineur... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation