Gene Summary

myosin VI
Tlc,  rsv,  Myo6rsv

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Myo6em1(IMPC)Tcp HOM Early adult 9.61×10-07
decreased heart rate Myo6em1(IMPC)Tcp HOM   Early adult 1.54×10-05
increased heart weight Myo6em1(IMPC)Tcp HOM   Early adult 7.86×10-05
decreased anxiety-related response Myo6em1(IMPC)Tcp HOM Early adult 1.53×10-12
decreased body length Myo6em1(IMPC)Tcp HOM Early adult 2.13×10-12
decreased prepulse inhibition Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating triglyceride level Myo6Tlc HET Early adult 8.59×10-07
increased lean body mass Myo6em1(IMPC)Tcp HOM Early adult 3.49×10-05
hyperactivity Myo6Tlc HET Early adult 2.77×10-11
head bobbing Myo6em1(IMPC)Tcp HOM Early adult 1.02×10-17
enlarged urinary bladder Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating potassium level Myo6em1(IMPC)Tcp HOM Early adult 2.63×10-05
abnormal startle reflex Myo6em1(IMPC)Tcp HOM Early adult 5.09×10-15
increased vertical activity Myo6Tlc HET Early adult 7.74×10-07
increased circulating phosphate level Myo6em1(IMPC)Tcp HOM   Early adult 7.93×10-05
hyperactivity Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased startle reflex Myo6em1(IMPC)Tcp HOM Early adult 5.18×10-06
abnormal sternum morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased lymphocyte cell number Myo6em1(IMPC)Tcp HOM Early adult 2.79×10-05
decreased bone mineral content Myo6em1(IMPC)Tcp HOM Early adult 9.05×10-05
abnormal gait Myo6em1(IMPC)Tcp HOM Early adult 1.44×10-10
decreased total body fat amount Myo6em1(IMPC)Tcp HOM Early adult 6.44×10-05
decreased grip strength Myo6em1(IMPC)Tcp HOM Early adult 1.74×10-07
increased mean corpuscular volume Myo6em1(IMPC)Tcp HOM Early adult 1.44×10-06
tremors Myo6Tlc HET   Early adult 2.64×10-16
decreased bone mineral density Myo6em1(IMPC)Tcp HOM Early adult 1.03×10-05
decreased circulating amylase level Myo6Tlc HET Early adult 2.24×10-08
increased circulating alkaline phosphatase level Myo6em1(IMPC)Tcp HOM Early adult 8.59×10-11
abnormal auditory brainstem response Myo6em1(IMPC)Tcp HOM   Early adult 1.82×10-06
abnormal uterus morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
abnormal behavior Myo6em1(IMPC)Tcp HOM Early adult 2.97×10-15
prolonged RR interval Myo6em1(IMPC)Tcp HOM Early adult 3.35×10-05
abnormal stomach morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating glucose level Myo6Tlc HET Early adult 1.90×10-05

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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.


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection


10 Images

Legacy Phenotype Associated Images

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Human diseases caused by Myo6 mutations

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

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

The table below shows human diseases associated to Myo6 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Myo6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Hearing impairment OMIM:614944
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 65
Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 112
Progressive hearing impairment OMIM:618257
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 70
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Spastic tetraplegia, Hearing impairment OMIM:258700
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Jerky head movements, Torticollis, Focal dyston... ORPHA:98807
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... OMIM:160120
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Ataxia, Slowed slurred speech, Progressive sensorineural hearing impairment OMIM:172500
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Scissor gait, Sensorineural hearing impairment, Tip-toe gait, Spasticity, Spastic paraplegia ORPHA:101004
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Optic atrophy, Spinocerebellar atrophy, Spastic dysarthria, Hearing impair... ORPHA:95433
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Oromandibular dystonia, Abnormal pyramidal sign, Vestibular dysfunction, Ca... ORPHA:52368
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Smith-Magenis syndrome
Hyperactivity, Stereotypy DECIPHER:8
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Dystonia, Chorea OMIM:611031
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Phonic tics, Motor tics OMIM:137580
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, ... ORPHA:231169
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Spinocerebellar Ataxia Type 31
Hearing impairment, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... OMIM:617862
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, EEG abnormality, Broad-based gait, Attention deficit hyperactivity dis... OMIM:617665
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Stereotypy, Inability to walk, Spastic diplegia OMIM:617830
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Hypertriglyceridemia, Tetraparesis, Spasticit... OMIM:615924
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Jerky head movements, Spastic gait, Spastic dys... ORPHA:251282
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Babinski sign, Inability to walk, Spastic tetraplegia OMIM:616657
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Low-set ears, EEG abnormality ORPHA:436151
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Charcot-Marie-Tooth Disease, Type 4B1
Distal sensory impairment, Abnormal auditory evoked potentials, Facial palsy, Decreased motor ner... OMIM:601382
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Myoclonic spasms, Prolonged QT interval, Hypocalcemic seizures, Ventricular ... ORPHA:36913
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Hyperactivity, Stereotypical body rocking, Recurrent hand flapping ORPHA:100973
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Periventricular Nodular Heterotopia 8
Attention deficit hyperactivity disorder, Spasticity OMIM:618185
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Macrotia, Anteverted ears, Stereotypy OMIM:615541
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Myoclonic spasms, Prolonged QT i... ORPHA:94089
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Ataxia, Spasti... ORPHA:99852
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus, Hearing impairment OMIM:220300
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations, Elevated circulating creatine kinase concentration OMIM:615048
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Stereotypy OMIM:300495
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormality of the pinna, Tremor, Ataxia, Hyperactivity, Spasticity, Cerebral cort... OMIM:300983
Neuroleptic Malignant Syndrome
Hypernatremia, Extrapyramidal muscular rigidity, Pulmonary embolism, Anxiety, Oculogyric crisis, ... ORPHA:94093
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Hearing impairment, Congestive hea... ORPHA:217622
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Stereotypy, Difficulty walking, Spasticity, Cerebral atrophy OMIM:617393
Chromosome 3Q29 Deletion Syndrome
Macrotia, Posteriorly rotated ears, Stereotypy, Hyperactivity, Low-set ears, Gait ataxia OMIM:609425
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hand tremor, Hyperinsulinemic hypoglycemia, ... ORPHA:79299
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Stereotypy OMIM:616341
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment OMIM:608224
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:607821
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure, Sudden cardia... OMIM:605362
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Mitral regurgitation, ... OMIM:616648
Episodic Ataxia Type 4
Ataxia, Abnormal head movements, Incoordination, Frequent falls ORPHA:79136
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign ORPHA:85292
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, Brain atrophy, EEG abnormality, Spasticity,... OMIM:618718
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Stereotypy OMIM:239500
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Myoclonic spasms, Prolonged QT interval, Hypocalcemic seizures, Laryngeal dy... ORPHA:94090
Autosomal Dominant Hypocalcemia
Optic atrophy, Writer's cramp, Nephrocalcinosis, Cortical myoclonus, Fatigable weakness, Reduced ... ORPHA:428
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform disch... ORPHA:88616
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Falls, Stereotypy, Ataxia OMIM:619150
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Chorea, Inability to walk, Stereotypical hand wringing OMIM:618760
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorde... OMIM:617182
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Neutropenia, Bradycardia, Sensorineural hearing impairment, Tremor, Hypertonia, 3-Methy... OMIM:617248
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Myoclonus, Tremor, Ataxia, Difficulty walking OMIM:614018
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progres... OMIM:125250
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperactivity, Ataxia, B... OMIM:617302
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Elevated circulating creatine kinase concentration, Bradykinesia,... OMIM:612953
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Pseudohypoparathyroidism Type 1A
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Reduced bone mineral density, Irri... ORPHA:79443
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity, Cerebellar atrophy, Cerebral atrophy OMIM:609924
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Pseudohypoparathyroidism Type 1C
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Irritability, Increased bone miner... ORPHA:79444
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Low-set, posteriorly rotated ears, Lower limb spasticity, Exaggerated startle resp... OMIM:618598
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Lower limb spasticity OMIM:619639
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... OMIM:601596
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Tremor OMIM:231950
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atr... OMIM:619092
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Chorea, Benign Familial
Chorea OMIM:215450
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Spasticity OMIM:240800
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Cleft palate, Triphalangeal thumb, Increased mean c... OMIM:612561
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Spastic parapa... ORPHA:206443
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Rigidity, Elevated circulating creatine kinase concentration, Tachyc... OMIM:145600
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration OMIM:182920
Jeavons Syndrome
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... ORPHA:139431
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Hypsarrhythmia, Spasticity, Cerebral atrophy ORPHA:500545
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure, Hearing impairment OMIM:615440
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cln5 Disease
Clumsiness, Corpus callosum atrophy, EEG with spike-wave complexes, Dysmetria, Multifocal epilept... ORPHA:228360
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spasticity, Transie... OMIM:612716
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Writer's cramp, Tremor OMIM:159900
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Huntington Disease-Like 3
Dystonia, Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor f... ORPHA:157946
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Short finger, Short metatarsal, Osteoporosis, Hypogonadism, Low urinary cycl... OMIM:103580
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Macrotia, Stereotypy OMIM:618504
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Hemiplegia, Abnormal P wave, ... ORPHA:1344
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia OMIM:615768
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Hypoglycemia OMIM:616113
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Short metatarsal, Osteoporosis, Hypogonadism, Low urinary cyclic AMP respons... OMIM:612462
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis, Facial palsy, Absent brainstem auditory responses, Sensorineural hearing impairm... OMIM:617519
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Macrotia, Stereotypy, Ataxia, Inability to walk, Broad-based gait, Spasticity,... OMIM:617695
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Patchy osteosclerosis, Small hand, Posteriorly rotated ears, Bifid uvula, ... OMIM:241410
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... OMIM:600795
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movement... ORPHA:382
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Hyperphenylalaninemia, Tremor, Hypertonia OMIM:261630
Shwachman-Diamond Syndrome
Neutropenia, Leukemia, Metaphyseal irregularity, Hearing impairment, Steatorrhea, Pancytopenia, O... ORPHA:811
Diamond-Blackfan Anemia 7
Macrocytic anemia, Horseshoe kidney, Cleft palate, Neutropenia, Increased mean corpuscular volume... OMIM:612562
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Increased circulating... OMIM:615234
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia, Hyperalaninemia, Left ventricular hypertrophy, Hypertonia OMIM:614654
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Steppage gait, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Gai... OMIM:618387
Autism, Susceptibility To, 3
EEG abnormality, Stereotypy OMIM:608049
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Stapes ankylosis... ORPHA:1435
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Oromandibular dysto... ORPHA:216873
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Cerebellar atrophy, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing,... OMIM:618917
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Ina... ORPHA:276435
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Jerky head movements, Choreoathetosis OMIM:245348
Stiff neck, Dysphagia, Hypertension, Opisthotonus, Elevated urinary epinephrine, Rigidity, Elevat... ORPHA:3299
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Osteoporosis, Bowing of the long bones, Hyperuri... OMIM:239000
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Tapered finger, Failure to thrive, Long fingers, Atrioventricular block, Macrotia, Brad... OMIM:614407
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Jerky head movements, Frequent falls, Dysmetria, Chorea, Abnor... ORPHA:157941
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Macroglossia, Abno... ORPHA:95717
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets, Nephrocalcinosis, Distal renal tubular acidosis, Isothenuria, Failure to th... OMIM:611590
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Babinski sign, Cerebellar atrophy, Spastic dysarthria, Stereotypy, Waddling gait, Spast... ORPHA:280763
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Clonus, Babinski sign, Myoclonic spasms, Rigidity, Bradycardia, Hypertonia, Flexio... OMIM:614498
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Cardiomyopathy OMIM:617336
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Amyotrophic lateral sclerosis, Spasticity, Stereotypy OMIM:612069
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy OMIM:610100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Failure to thrive, Ventricular hypertrophy, Bradyc... OMIM:619048
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Micropenis, EEG ab... OMIM:618815
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Low-set, posteriorly rotated ears, Conges... ORPHA:2022
Spastic Paraplegia 79, Autosomal Recessive
Optic atrophy, Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, ... OMIM:615491
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Hyper... ORPHA:248111
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Lipoyltransferase 1 Deficiency
Dystonia, Pulmonary arterial hypertension, Abnormality of extrapyramidal motor function, Increase... OMIM:616299
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, ... ORPHA:247815
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Smal... ORPHA:2323
Hurler-Scheie Syndrome
Hepatomegaly, Cardiomyopathy, Splenomegaly, Sensorineural hearing impairment, Abnormal heart valv... ORPHA:93476
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Cerebellar atrophy, Abnormality of visual evoked potentials, EEG with series of... ORPHA:168491
Urocanic Aciduria
Abnormal circulating histidine concentration, Ataxia, Truncal ataxia, Broad-based gait, Action tr... ORPHA:210128
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Tetraplegia, Hyperactivity, Hypertonia, Cerebral atrophy, Lethargy OMIM:274270
Bor Syndrome
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Facial palsy, Hearing impairment, Abnormal... ORPHA:107
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Unsteady gait, Inc... OMIM:619405
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, EEG w... ORPHA:275864
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Macrotia, Abnormality of the pinna, Stereotypy, Hyperactivity, Ataxia, Incoordi... OMIM:614104
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Short metacarpal, Hypocalcemia, Obesity, H... OMIM:603233
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscu... OMIM:277410
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Prolonged QT interval, Atrial fibrillation, Elevated c... OMIM:613327
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Gait disturbance, Dysphagia, Cardiomyopathy, Bradycardia, Hypogon... OMIM:609286
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy OMIM:612989
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Cerebellar atrophy, Hearing impairment, Tetraplegia, Hyperactivity, Corpus callosu... ORPHA:369939
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... ORPHA:98870
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia, Hypoglycemia ORPHA:67046
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Snijders Blok-Campeau Syndrome
Speech apraxia, Stereotypy, Broad-based gait, Unsteady gait, Low-set ears OMIM:618205
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Macroorchidism, Obesity, Focal EEG discharges with second... ORPHA:3077
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tremor, Reactive h... ORPHA:276608
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia OMIM:210000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Rickets, Metaphyseal irregularity, Hypophosphatemia, Irritability, Femoral... OMIM:264700
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... ORPHA:352490
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Elevated circulating creatine kinase concentration, Abnormal glucose homeost... ORPHA:90117
Atypical Rett Syndrome
Involuntary movements, Dystonia, Gait disturbance, Limb myoclonus, Impaired pain sensation, Tongu... ORPHA:3095
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis OMIM:604317
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Central nervous system degeneration, Decreased nerve conduction velo... ORPHA:868
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, S... ORPHA:1215
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Syndactyly, Tetralog... OMIM:601005
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... OMIM:618849
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the ... ORPHA:99027
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hypertonia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Myoclonus, Hypsarrhythmia, Stereotypy, Multifocal epileptifor... ORPHA:411986
Refractory Celiac Disease
Jejunitis, Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Villous atrophy, Iron deficienc... ORPHA:398063
Christianson Syndrome
Dystonia, Cerebellar atrophy, Neuronal loss in central nervous system, Macrotia, Stereotypy, Trun... ORPHA:85278
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Optic atrophy, Abnormality of the pinna, Stereotypy, Spasticity, Unsteady gait, Gait at... OMIM:617807
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Elevated circulating creatine kinase concentrati... OMIM:212138
Eisenmenger Syndrome
Brain abscess, Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, E... ORPHA:97214
Adult Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Babinski sign, Hoffmann sign, Frequent falls, Prog... ORPHA:206448
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Small for gestational age, Epiphyseal stippling, Short metatarsal, Neonatal epiphy... OMIM:101800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Failure to thrive, ... OMIM:600081
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Polycystic ovaries, Hearing impairment, Abnormal testis morphology, Ob... ORPHA:457059
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Hyperphenylalaninemia, Tremor, Ataxia, Hyperto... OMIM:261640
Hypertrophic cardiomyopathy, Optic atrophy, Infantile sensorineural hearing impairment, Pulmonic ... ORPHA:3129
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hyperlipidemia, Hand tremor, Mildly elevated creatine kinase, Fasciculations, T... OMIM:604484
Beta-Thalassemia Intermedia
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Anemia of inadequate production, ... ORPHA:231222
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dystonia, Decreased circulating ferritin concentration, Rigidity, Choreoathetosis,... OMIM:606159
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Rickets, Metaphyseal irregularity, Hypophosphatemia, Femoral bowing, C... OMIM:241530
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Hepatomegaly, Cardiomyopathy OMIM:610717
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Multifocal epileptiform discharges, Ata... OMIM:619317
Portal hypertension, Gait disturbance, Renal tubular dysfunction, Hypokalemia, Rickets, Failure t... ORPHA:213
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Speech apraxia, Stereotypy OMIM:613670
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy OMIM:618906
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Macroglossia, Abno... ORPHA:95716
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Anteverted ears, Poor coordination, Abnormality of pain sensation, Macrotia, Tr... ORPHA:544254
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Babinski sign, Optic disc pallor, Limb hypertonia, Prominent calcaneus, De... ORPHA:565624
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Long-segment aganglionic megacolon, Absent brainstem auditory responses, Decreased nerve conducti... OMIM:609136
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Vertigo, Fasciculations, Hearing impairmen... ORPHA:276198
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Bone cyst, Genu varum, Hypophosphatemia, Abnormal bone structure, Nephrolithias... ORPHA:93160
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Irritability, Hyperphosphatemia OMIM:239350
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Optic atrophy, Progressive spasticity, Babinski sign, ... OMIM:608804
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Optic nerve hypoplasia, Macrotia, Spastic tetraplegia, Inability to walk, Hypertonia, Spa... OMIM:617864
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Posteriorly rotated ears, Pulmonic stenosis, Atrial septal defect, B... OMIM:618499
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Insulin resistance, Myoclonus, Tremor, Ataxia, Hyperactivity, Hypertrigl... ORPHA:363400
Blackfan-Diamond Anemia
Hypospadias, Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Reticul... ORPHA:124
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis OMIM:615615
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... ORPHA:420485
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Cerebellar atrophy, Head titubation, Truncal ataxia, Spasticity, Abnormal pyramidal sig... OMIM:617560
Hyperkalemic Periodic Paralysis
Hyperkalemia, Gait disturbance, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase c... ORPHA:682
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the... ORPHA:324575
Hypercystinemia, Hyperammonemia, Tremor, Abnormality of circulating enzyme level, Spastic diplegi... ORPHA:3124
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Thin bony cortex, Fibular bowing, Hypocalcemic seizures, Rickets, Subperiosteal bo... OMIM:277440
Xq28 (MECP2) duplication
Progressive spasticity, Macrotia, Stereotypy, Inability to walk, Gait ataxia DECIPHER:45
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia OMIM:610245
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Neurodegeneration, Ne... OMIM:256600
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Mental Retardation, Autosomal Recessive 61
Babinski sign, Posteriorly rotated ears, Hyperactivity, EEG abnormality, Spasticity, Low-set ears OMIM:617773
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
X-Linked Dystonia-Parkinsonism