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Gene: Ankfn1 MGI:2686021

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... ORPHA:251282
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia,... ORPHA:240103
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Cognitive impa... ORPHA:401901
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn... OMIM:614063
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Aggressive behavior, Bruxism, Spasticity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Huntington Disease-Like 1
Restlessness, Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred spe... ORPHA:157941
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Spasticity, Aggressive behavior OMIM:615493
Sandhoff Disease, Adult Form
Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Mental deterioration, S... ORPHA:309169
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysp... ORPHA:216873
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... OMIM:619150
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Huntington Disease-Like 3
Psychomotor deterioration, Abnormal head movements, Broad-based gait, Extrapyramidal muscular rig... ORPHA:157946
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Inappropriat... OMIM:600795
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hearing impairment OMIM:620270
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental... OMIM:615924
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... ORPHA:79262
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia, Ankle clonus, Spasticity OMIM:616657
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... OMIM:613670
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Stereotypical b... ORPHA:100973
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... OMIM:609425
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... OMIM:617862
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia OMIM:617018
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Coenzyme Q10 Deficiency, Primary, 9
Short attention span, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tan... OMIM:619028
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... ORPHA:248111
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... OMIM:617820
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Macrotia, ... OMIM:616269
Schizophrenia 15
Hyperactivity OMIM:613950
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Foxg1 Syndrome
Dystonia, Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Cogniti... ORPHA:561854
Hartnup Disorder
Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder OMIM:234500
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia OMIM:617830
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... OMIM:615768
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... OMIM:301107
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Hypertonia, Myoclonus, D... OMIM:261630
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Decreased body weight, Ataxia, Inability to walk, Poor coordination, Limb ataxi... OMIM:617695
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Bradykinesia, Dementia, Gait disturbance, Parkinsonism w... OMIM:616710
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Spastic... OMIM:618718
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hy... OMIM:617435
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive... OMIM:612069
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Mental deterioration, M... ORPHA:240085
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Dementia, Abnormality of extrapyramidal mo... OMIM:615362
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcorti... OMIM:606159
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitive impairment, R... OMIM:617284
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Ataxia, Tremor, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D... ORPHA:98764
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor... ORPHA:2590
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... ORPHA:3095
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Cognitive impa... OMIM:615157
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Cogn... ORPHA:314632
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping OMIM:300624
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Demen... OMIM:604326
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Progressive cerebellar ataxia, Cogwheel rig... OMIM:607346
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Weight loss, Bradykinesia, Dementia, Dystonia, Memory imp... OMIM:606438
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Myoclonus, Mental deterioration ORPHA:2382
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Cognitive ... OMIM:616795
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Abnormal repetitive m... OMIM:172700
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia OMIM:615282
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Small for gestational age, ... OMIM:261640
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... OMIM:245348
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dys... ORPHA:391417
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... OMIM:618917
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia OMIM:128235
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, S... ORPHA:52368
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dyston... OMIM:312080
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Slender build, Chorea, Myoclonus, Attention deficit hyperactivity ... OMIM:617600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Landau-Kleffner Syndrome
Speech apraxia, Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Slurred sp... ORPHA:98818
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Small for gestational age, Fail... OMIM:614104
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Mental deterioration... OMIM:609260
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to ... ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Difficulty walking, Dystonia, Spast... ORPHA:280763
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Dysphagia, Hand tremor, Intention ... ORPHA:276198
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairmen... OMIM:618342
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig... OMIM:137440
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Weight loss, Bradykinesia, Ina... OMIM:168605
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Tremor, Mental det... ORPHA:206443
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Small for gestational age, Repetitive compulsive behavior, Hyperto... ORPHA:352490
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsivity, Postural tremor, Limb ataxia, G... OMIM:607454
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment OMIM:614018
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Hypertonia, Myoclonus... OMIM:619092
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Impulsivity, Tremor, Park... ORPHA:240071
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Spastic pa... ORPHA:329284
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... ORPHA:442835
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Dementia, Tongue fasciculations, Difficulty walking, Dysphagia, Myoclonus, Frequent falls OMIM:159950
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Action tremor, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairmen... OMIM:620158
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... ORPHA:411515
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hyperactivity, Incoordination, Aggressive behavior, Paralysis, Parap... ORPHA:43
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity... OMIM:619556
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Progressive language deterioration, Mental deter... ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation OMIM:617916
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Apraxia, Resting tremor, Ataxia, Parkinsonism, Dystonia, Tremor, Babinski sign, Spa... OMIM:300055
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, ... OMIM:300894
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... OMIM:619317
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Hyperkinetic m... OMIM:233910
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Myoclonus OMIM:605899
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Ab... ORPHA:363400
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov... OMIM:619738
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Mental deterioration, Ocul... OMIM:208920
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Dementia, Progre... ORPHA:79264
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Crouch gait, Failure to thrive OMIM:620145
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Xq28 (MECP2) duplication
Failure to thrive, Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Macrotia, A... DECIPHER:45
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... OMIM:183090
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... ORPHA:137898
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Dementia, Fa... ORPHA:683
Christianson Syndrome
Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Macrotia, Abn... ORPHA:85278
Childhood Absence Epilepsy
Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Sensorineural hearing impairment, Babinski sign, Dysmetria, ... OMIM:302800
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... ORPHA:521406
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti... OMIM:619580
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... ORPHA:33543
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Dysphagia, Choreoathetosis, Bilateral sensorineural hearing impairment,... OMIM:619422
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Oromandibular dystonia, Dysm... ORPHA:101
4H Leukodystrophy
Dystonia, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of ... ORPHA:289494
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment ORPHA:101075
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... OMIM:620141
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Poor coordination, Obsessive-compulsiv... ORPHA:544254
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impa... OMIM:603472
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Postlingual sensorineural hearing impairment, Dysphagia, Mental deterioration, ... OMIM:304700
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... ORPHA:36387
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Paraplegia, Agitation, Cognitive impairment, Failure to thrive, Abnormal repet... ORPHA:927
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coor... OMIM:620242
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi... OMIM:610185
Classic Phenylketonuria
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Hemiplegia, Attention deficit hyperactiv... ORPHA:79254
Jeavons Syndrome
Limb myoclonus, Abnormal head movements ORPHA:139431
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Hyperkinetic movements, Gait disturbance, Upper limb spasticity, Macrotia, Ab... ORPHA:457240
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Trisomy X
Tremor, Attention deficit hyperactivity disorder, Cognitive impairment ORPHA:3375
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Confusion, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign,... OMIM:607483
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... ORPHA:98794
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-compulsive trait, Dement... ORPHA:168491
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Lower limb spasticity, Ataxia, Confusion, Spastic tetrapares... ORPHA:139396
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog... ORPHA:70594
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment ORPHA:101078
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... ORPHA:157846
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... OMIM:210000
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gai... OMIM:610217
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... ORPHA:1170
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar atax... ORPHA:254881
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment, Hearing impairment ORPHA:79234
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Mental deteriorat... OMIM:614298
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment ORPHA:820
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Low-set ears, Difficulty walking, Fa... ORPHA:477673
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... OMIM:301013
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... ORPHA:542310
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i... ORPHA:1368
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation,... OMIM:607485
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Young-Onset Parkinson Disease
Short attention span, Restless legs, Impulsivity, Tremor, Rigidity, Frontal lobe dementia, Bradyk... ORPHA:2828
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... OMIM:615530
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Obesity... OMIM:600430
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Progressive hearing impairment, Myoclonus, Dysphagia ORPHA:97229
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... ORPHA:139485
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Obesity, Progr... ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturb... OMIM:300986
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... OMIM:617044
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Dementi... ORPHA:75567
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, B... OMIM:618004
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... ORPHA:93958
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Involuntary movements, Attention deficit hyperactivity disorder, Cognitive i... ORPHA:98784
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Cognitive impairment, Mental de... ORPHA:3124
New-Onset Refractory Status Epilepticus
Abnormal head movements, Confusion, Cognitive impairment ORPHA:363558
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod... OMIM:617865
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Mental deterioration, Bradykinesia, Dementia, G... OMIM:168601
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Poor coordination, Obesity,... OMIM:618430
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... OMIM:619121
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... ORPHA:208447
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Hyperactivity, Restlessness, Aggressive behavior, Clumsiness, Agitation, Ma... OMIM:300558
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Sp... ORPHA:35069
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Decreased body weight, Ataxia, Rigidity, Inability to ... OMIM:300260
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior, Spasticity, Hearing impairment ORPHA:457260
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Agitation, Increased body weight, Progressive neurologic deterioration ORPHA:276608
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Dystonia, Aggressive behavior, Underfolded superior helices, Hy... OMIM:300352
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Weight loss, Bradykinesi... ORPHA:411602
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Abnormal pyramidal sign, Tetraplegia, Failure to thrive, Hear... ORPHA:369939
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, D... ORPHA:778
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Overfriendliness, Abnormal pinna morphology, Small for gesta... OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Aggressive behavior, Decreased body weight, Spasticity, Hearing ... OMIM:300958
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Dysphagia, Distal sensory impairment OMIM:607734
Rett Syndrome
Dystonia, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Spasticity, Motor deterio... OMIM:312750
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio... OMIM:607694
Perry Syndrome
Parkinsonism, Tremor, Weight loss, Dementia, Abnormality of extrapyramidal motor function ORPHA:178509
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypertonia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Optic Atrophy 11
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Hyperkinet... OMIM:617302
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Dysphagia, Shor... OMIM:168600
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Overweight, Repetitive compulsive behavior, Oromotor apraxia, Attention def... ORPHA:391372
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Hijazi-Reis Syndrome
Ankle clonus, Abnormal repetitive mannerisms, Gait disturbance, Lower limb spasticity OMIM:301094
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Hearing impairment ORPHA:99014
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Sensorineural hearing... OMIM:609727
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Attention deficit hyp... ORPHA:261197
Ogden Syndrome
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait, Low-set ears, Macrotia ORPHA:276432
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, Spasticity, Abn... OMIM:617807
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... OMIM:610883
Proximal 16P11.2 Microduplication Syndrome
Tremor, Microtia, Compulsive behaviors, Attention deficit hyperactivity disorder, Failure to thri... ORPHA:370079
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Prominent ear helix, Large earlobe, Myoclonus, Abnormal repetitive mannerisms ORPHA:411986
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Developmental And Epileptic Encephalopathy 46
Tremor, Limb hypertonia, Failure to thrive, Dysphagia OMIM:617162
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur... ORPHA:530983
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Dysphagia, Large earlobe, Gait imbalan... OMIM:619312
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor,... OMIM:619680
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
48,Xxyy Syndrome
Ataxia, Tremor, Obesity, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:10
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation ORPHA:52503
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Snijders Blok-Campeau Syndrome
Speech apraxia, Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity di... OMIM:618205
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... ORPHA:646
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat... OMIM:619574
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention defi... ORPHA:449291
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Small for gestational age, Congenital sensorineural hearing ... ORPHA:73272
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrap... OMIM:615673
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Brain-Lung-Thyroid Syndrome
Short attention span, Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary movements, Abn... ORPHA:209905
Choreoacanthocytosis
Chorea, Oromandibular dystonia, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulati... ORPHA:2388
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthotonus, Inappropriate l... OMIM:103050
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight OMIM:618347
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Dysphagia, Self-injurious behavior, Compulsive b... OMIM:617061
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe... OMIM:617710
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Se... OMIM:300912
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Lower limb spasticity, Posteriorly rotated ears, Ataxia, Tremor, Inability ... OMIM:619229
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment ORPHA:238750
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short attention span, Sensorineural hearing impairment, Decreased body weight OMIM:608747
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Confusion, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Limb ataxia... OMIM:105210
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Ataxia, Narcolepsy, Sensorineural hearing impairment, Babinski sign, Head tremor,... ORPHA:314404
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Clumsiness, Diminished ability to concentrate, Attention deficit hyperactivity disorder, ... OMIM:615656
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Tetraparesis ORPHA:85277
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Dementia, Decreased body weight, Hearing impairment OMIM:278760
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... OMIM:614381
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Incoordination, Dystonia, Frequent falls, Tre... ORPHA:845
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... ORPHA:1942
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Short attention span, Hyperactivity, Speech apraxia, Obesity, Poor fine motor coord... ORPHA:589821
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Tetraplegia, Pseu... OMIM:616586
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Asymmetry of the ears, Overweight, Sensorineural hearin... OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... ORPHA:476126
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... OMIM:619435
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Protruding ear, Abnormal helix morphology, Compulsive behaviors, ... ORPHA:401777
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Sensorineural hearing impairment, Babinski sign, Impaired vibration sensation in the lowe... ORPHA:447753
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Hypertonia... OMIM:618914
Hyperlysinemia
Short attention span, Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetrapares... ORPHA:2203
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni... OMIM:616840
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... ORPHA:3306
Migraine, Familial Hemiplegic, 2
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, De... ORPHA:25
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Protruding ear, Athetosis, Bruxism, Spasticity, Apraxia, Abno... OMIM:613454
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Spasticity, Abnormal repetitive mannerisms, Involuntary movements, Dysphagia ORPHA:572013
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia, Head tremor OMIM:619428
Insulinoma
Tremor, Increased body weight, Transient global amnesia, Paresthesia, Abnormality of pain sensati... ORPHA:97279
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Serotonin Syndrome
Restlessness, Confusion, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus, Mental deter... ORPHA:43116
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Abnormal ... OMIM:606002
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerism... OMIM:616579
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Progressive neurologic deterioration, Anorexia, Oral-pharyngeal dysphagia, Aggr... ORPHA:2131
Smith-Magenis Syndrome
Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Gait dis... ORPHA:819
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Dysphagia OMIM:313200
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperactivity disorder, Abno... ORPHA:1727
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... ORPHA:72
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable ... ORPHA:199351
Cystinosis
Abnormal pyramidal sign, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive man... ORPHA:213
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Dementia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Torticollis, Inability to walk, Sensorineural hearing impai... ORPHA:300570
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Sensorineural hearing imp... ORPHA:760
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Small for gestational age, Self-injurious behavior, Compulsive behavior... OMIM:613174
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Protruding ear, Hypertonia, Tics, Compulsive behaviors, Decreased body weight, Abnormal r... OMIM:619475
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Abnormal rep... OMIM:617802
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased body mass index, Confusion, Aggressive behavior, Abnormal ... ORPHA:247585
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Tremor, Addictive behavior, Tip-toe gait, Gait disturbance, Dem... ORPHA:512
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Low-set ears OMIM:617751
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairmen... OMIM:212066
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Babinski sign, Prominent antihelix, Hypertonia, Inappropriate laughter, Spasti... OMIM:615802
Nmda Receptor Encephalitis
Short attention span, Confusion, Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuali... ORPHA:217253
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... OMIM:601104
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Low-set ears, Attention deficit hyperactivity disorder, Abnormal repeti... OMIM:619293
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Ataxia, Attention deficit hyper... ORPHA:435638
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearin... OMIM:616364
Transketolase Deficiency
Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal... ORPHA:488618
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious ... OMIM:619575
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Abnormal repetitive mannerisms ORPHA:529965
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Frequent temper tantrums, A... OMIM:619103
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Hypertonia, Abnormal repetitive mannerisms ORPHA:79155
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Fa... OMIM:619695
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... OMIM:616393
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Ataxia, Tetraplegia, Fasciculations, Progressive spasticity, Dysphagia, Cataplexy, Spas... ORPHA:496641
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... ORPHA:522077
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Limb dystonia, Spas... ORPHA:457351
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal repetitiv... ORPHA:500159
Pilarowski-Bjornsson Syndrome
Speech apraxia, Abnormal repetitive mannerisms OMIM:617682
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity OMIM:176500
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation ORPHA:424
Joubert Syndrome 6
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia OMIM:610688
2Q37 Microdeletion Syndrome
Obesity, Compulsive behaviors, Attention deficit hyperactivity disorder, Conductive hearing impai... ORPHA:1001
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Bilateral sensorineural hearing im... ORPHA:66634
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Protruding ear, Hypertonia, Low-set e... ORPHA:447997
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... OMIM:606232
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitiv... OMIM:610253
Mercury Poisoning
Tremor, Confusion, Anorexia, Dystonia ORPHA:330021
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe... ORPHA:457279
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Incoordination, Anorexia, Paralysis, Tremor, Diminis... ORPHA:297
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Ataxia, Protruding ear ORPHA:2479
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior... OMIM:614756
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low-set ears... ORPHA:319182
White-Sutton Syndrome
Hyperactivity, Incoordination, Posteriorly rotated ears, Aggressive behavior, Sensorineural heari... ORPHA:468678
Bainbridge-Ropers Syndrome
Failure to thrive, Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Hyperton... OMIM:615485
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms, Myoclonus OMIM:300672
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Abnormal pyr... OMIM:614947
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma... OMIM:619005
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga... ORPHA:96121
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment OMIM:146500
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements, Obesity, Low-set ears, Hearing impairment ORPHA:369837
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Pain insensitivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Overfolde... OMIM:617330
Pitt-Hopkins Syndrome
Incoordination, Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal rep... OMIM:610954
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Thickened helices, Abnormal repetitive man... ORPHA:261494
Van Esch-O'Driscoll Syndrome
Impulsivity, Unilateral vocal cord paralysis, Protruding ear, Microtia, Attention deficit hyperac... OMIM:301030
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Ag... ORPHA:3385
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Protruding ear, Gait disturbance, Attention deficit hyperactivity diso... ORPHA:464311
Mucopolysaccharidosis Type 2
Short attention span, Otosclerosis, Hyperactivity, Progressive neurologic deterioration, Aggressi... ORPHA:580
Prader-Willi Syndrome Due To Translocation
Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... ORPHA:177907
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Sensorineural hearing impairment, Sel... OMIM:619512
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Abnormal pyramidal sign, Self-injurious behavior, Thin ear hel... ORPHA:468631
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Abnormal repetitive mannerisms OMIM:619777
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Low-set ears, Bruxism, Failure to thrive, Abnormal repetitive ma... OMIM:619297
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Aggressive behavior,... OMIM:620330
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Abnormal repetitive mannerisms, Cupped ear, Bruxism, Dys... OMIM:615873
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Posteriorly rotated ears, Aggressive behavior, Obesity, Abnormal repetitive... OMIM:301066
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Failure to thrive, Small for gestational age, Protruding ear, Gait disturbance, Ma... ORPHA:464306
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Spasticity, A... OMIM:301040
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... ORPHA:513456
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Cupped ear, Poor coordination... OMIM:309590
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Low-set ears, Difficulty walking, Overfolded helix, Abnormal repetitive mannerisms OMIM:618653
Norrie Disease
Failure to thrive, Clonus, Cachexia, Sensorineural hearing impairment, Protruding ear, Abnormal c... ORPHA:649
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Poly... ORPHA:1606
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Clonus, Protruding ear, Self-injurious behavior, Compulsive be... ORPHA:534
Arboleda-Tham Syndrome
Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Prominent an... OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Superiorly d... OMIM:259050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Truncal obesit... OMIM:612474
Ogden Syndrome
Torticollis, Protruding ear, Hypertonia, Low-set ears, Dysphagia, Macrotia, Abnormal repetitive m... OMIM:300855
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Hearing impairment ORPHA:508498
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Spastic tetraparesis, Hypertonia, Overfolded helix, Abnormal repetitive... OMIM:301044
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Sensorineural hearing impairment, ... OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Dysphagia, Microtia, Low-set ears, Attent... OMIM:619522
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Small for gestational age, Sensorineural hearing impairment, Conductiv... OMIM:194190
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, In... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Inability ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Inability ... ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ankfn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ankfn1.

No publications found that use IMPC mice or data for Ankfn1.

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MGI Allele Allele Type Produced
Ankfn1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ankfn1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ankfn1tm38366(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ankfn1tm38366(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ankfn1tm64(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ankfn1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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