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Gene: Myo6 MGI:104785

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Gene Summary

Name:
myosin VI
Synonyms:
Tlc,  rsv,  Myo6rsv

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged urinary bladder Myo6em1(IMPC)Tcp HOM Early adult 0.00
abnormal uterus morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating triglyceride level Myo6Tlc HET Early adult 8.59×10-07
decreased body temperature Myo6Tlc HET Early adult 3.16×10-08
tremors Myo6Tlc HET Early adult 1.24×10-16
increased lean body mass Myo6em1(IMPC)Tcp HOM Early adult 3.10×10-05
hyperactivity Myo6Tlc HET Early adult 2.77×10-11
decreased anxiety-related response Myo6em1(IMPC)Tcp HOM Early adult 5.64×10-12
increased heart weight Myo6em1(IMPC)Tcp HOM   Early adult 4.54×10-05
decreased bone mineral content Myo6em1(IMPC)Tcp HOM   Early adult 2.18×10-06
decreased grip strength Myo6em1(IMPC)Tcp HOM Early adult 1.98×10-07
decreased body length Myo6em1(IMPC)Tcp HOM Early adult 2.65×10-12
abnormal gait Myo6em1(IMPC)Tcp HOM Early adult 2.05×10-11
decreased bone mineral density Myo6em1(IMPC)Tcp HOM Early adult 7.84×10-06
decreased circulating potassium level Myo6em1(IMPC)Tcp HOM Early adult 9.11×10-05
hyperactivity Myo6em1(IMPC)Tcp HOM Early adult 0.00
abnormal startle reflex Myo6em1(IMPC)Tcp HOM Early adult 2.86×10-16
increased mean corpuscular volume Myo6em1(IMPC)Tcp HOM Early adult 1.07×10-06
decreased circulating glucose level Myo6Tlc HET Early adult 1.90×10-05
head bobbing Myo6em1(IMPC)Tcp HOM Early adult 3.80×10-19
abnormal sternum morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased startle reflex Myo6em1(IMPC)Tcp HOM Early adult 1.15×10-05
increased circulating alkaline phosphatase level Myo6em1(IMPC)Tcp HOM Early adult 7.55×10-12
increased circulating phosphate level Myo6em1(IMPC)Tcp HOM   Early adult 8.02×10-05
decreased total body fat amount Myo6em1(IMPC)Tcp HOM Early adult 7.26×10-05
abnormal auditory brainstem response Myo6em1(IMPC)Tcp HOM   Early adult 8.99×10-07
decreased circulating amylase level Myo6Tlc HET Early adult 2.24×10-08
decreased heart rate Myo6em1(IMPC)Tcp HOM Early adult 1.39×10-07
decreased leukocyte cell number Myo6em1(IMPC)Tcp HOM Early adult 2.39×10-05
increased vertical activity Myo6Tlc HET Early adult 7.74×10-07
decreased prepulse inhibition Myo6em1(IMPC)Tcp HOM Early adult 0.00
abnormal stomach morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
abnormal behavior Myo6em1(IMPC)Tcp HOM Early adult 1.94×10-16
prolonged RR interval Myo6em1(IMPC)Tcp HOM Early adult 1.01×10-08

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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.

Histopathology

Images

8 Images

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Eye Morphology

Images Slit Lamp

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Legacy Phenotype Associated Images
Myo6sv
HET, Male, WTSI
Myo6sv
HET, Male, WTSI
Myo6sv
body, HOM, Male, WTSI
Myo6sv
HET, Female, WTSI
Myo6sv
HOM, Female, WTSI

View all 165 images

Myo6sv
abnormal hair follicle bulge morphology, HOM, Female, WTSI
Myo6sv
tail skin, HET, Female, WTSI
Myo6sv
tail skin, HET, Female, WTSI
Myo6sv
abnormal hair cycle, HOM, Female, WTSI

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Schizophrenia 15
Hyperactivity OMIM:613950
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
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 Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
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 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Tune Deafness
Hearing impairment OMIM:191200
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 Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 25
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300425
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Hearing impairment OMIM:620038
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:607373
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Hearing impairment, Cochlear degeneration OMIM:271250
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural 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 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:300495
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Dysdiadochokinesis, Impaired vibration sensation at ankles, Abn... ORPHA:101007
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, EEG abnormality, Agitation OMIM:617171
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ... ORPHA:95433
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, EEG abnormality, Truncal ataxia, Unsteady... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub... ORPHA:231169
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Ataxia, Sensorineural hearing impairment ORPHA:231183
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Recurrent hand flap... OMIM:617862
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, EEG abnormality, Ataxia, Dys... OMIM:619150
Dystonia 11, Myoclonic
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors OMIM:159900
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Hype... OMIM:615924
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Motor stereotypy OMIM:617830
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
Migraine, Familial Hemiplegic, 1
Fever, Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait, Dysphagia OMIM:615945
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... ORPHA:401901
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Hearing impairment, Congestive heart failure, Recurrent otitis media, Abn... ORPHA:217622
Developmental And Epileptic Encephalopathy 78
Spasticity, Cerebral palsy, Inability to walk, Chorea, Hypothermia OMIM:618557
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... OMIM:609425
Hyperprolinemia, Type I
Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, ... ORPHA:36913
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Violent behavior, Frequent falls, Chorea, Limb dystonia, Upper motor ... ORPHA:216873
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Anorexia ORPHA:99852
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia OMIM:615026
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Laryngeal dystonia, Low urinary cyclic AMP response to PTH adminis... ORPHA:94089
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Congestive heart failure, Sensorineural hearing impairment, Abnormal left... OMIM:605362
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Inability to walk, Ankle clonus, Babinski sign, Hyperactivity, Spastic tetraplegia OMIM:616657
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, EEG abnormality,... OMIM:618718
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines OMIM:608049
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Optic atrophy, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pi... OMIM:300983
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Cerebral cortical atrophy, Motor stereotypy, EEG abnormality OMIM:617820
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Elevated circulating creatine kinase concentration, Tremor, Fasciculations OMIM:615048
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... OMIM:620482
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Tremor, Ataxia ORPHA:29822
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Brunner Syndrome
Self-injurious behavior, Aggressive behavior, Kinetic tremor, Impulsivity OMIM:300615
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Hyperphenylalaninemia, Bh4-Deficient, C
Recurrent fever, Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Dysphagia, Chore... OMIM:261630
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Inability to walk, Tremor, Hypsarrhythmia, Hyperactivity, A... ORPHA:599373
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal... ORPHA:79299
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Myoglobinuria, Arrhythmia, Urinary incontinence, Tachycardia, Hyperkalemia, Dy... ORPHA:94093
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Inability to walk, Chorea, Stereotypical hand wringing, EEG abnormality,... OMIM:618760
Autosomal Dominant Spastic Ataxia Type 1
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Spastic... ORPHA:251282
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Gait at... OMIM:618917
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... ORPHA:382
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Spasticity, Cerebral palsy, Aggressive behavior, Hyperactivity, Unsteady gait, Compu... OMIM:301107
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Motor stereotypy OMIM:619690
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears OMIM:618147
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Sensorineural hearing i... ORPHA:79443
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Tremor, Self-mutilation, Aggressive behavior, Waddling... OMIM:616269
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Calcinosis,... ORPHA:79444
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased RBC distribution width, Increased mean corpuscular... OMIM:261000
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
N-Acetylglutamate Synthase Deficiency
Hyperammonemia, Hypothermia, Hyperglutamatemia, Aggressive behavior, Hyperglutaminemia, Low plasm... OMIM:237310
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Self-injurious behavior, Profound sensorineural hearing impairmen... OMIM:620469
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, ... ORPHA:94090
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... ORPHA:139431
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition OMIM:612069
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Short toe, Short finger, Hypogonadism, Hypocalcemic tetany, Low urinary cyclic... OMIM:103580
Autosomal Dominant Hypocalcemia
Optic atrophy, Nephrocalcinosis, Hypotension, Hyperphosphatemia, Depression, Hypomagnesemia, Cong... ORPHA:428
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hearing impairment, Hyperactivity OMIM:248510
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Distal se... OMIM:300614
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Hearing impairment, Clinodactyly, Failure to thrive, Pancytope... ORPHA:2169
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia OMIM:264070
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Cerebellar atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Dystonia OMIM:618237
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... ORPHA:276435
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Fatigable weakness of swallowing muscles, Diffi... ORPHA:99845
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Failure to thrive, Generalized dystonia, Hypertrop... OMIM:618235
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Macrotia, Stereotypical hand wringing ORPHA:397933
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Tracheomala... OMIM:612561
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Gastroesophageal reflux, Patent foramen ovale, Attention deficit hyperactivity disorder, Hyperact... OMIM:617182
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, EEG with continuous slow activity, Frontotemporal cerebral atrophy, Inappro... ORPHA:275864
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypogonadism, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH admi... OMIM:612462
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait distu... OMIM:600795
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hearing impairment, Hydroxyprolinuria, Increased bone mineral dens... OMIM:239000
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... OMIM:601455
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hyperalaninemia, Hypothermia, Hypertonia OMIM:614654
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... OMIM:620211
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy OMIM:610100
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia, Dysphagia OMIM:128235
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... OMIM:302500
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... OMIM:618618
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati... OMIM:606159
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Bifid uvula, Small hand, Patchy osteosclerosis, Hyperphosphatemia, Cryptorchidism, ... OMIM:241410
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... ORPHA:251061
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... ORPHA:521406
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria... OMIM:145600
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor, Sensorineural hearing impairment OMIM:612989
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor, Stereotypical hand wringing OMIM:619561
Lennox-Gastaut Syndrome
Falls, Vertigo, Aggressive behavior, Hyperactivity, EEG abnormality, EEG with focal sharp slow waves ORPHA:2382
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Intellectual Developmental Disorder, Autosomal Dominant 7
Cerebral cortical atrophy, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance,... OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears, Impulsivity OMIM:619717
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Glycine Encephalopathy 1
Myoclonus, Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Gastroesophageal reflux, Abnormal circulating creatine kinase concentr... OMIM:617519
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Dysmetria, Tremor, Impaired tandem gait, Lower limb spa... OMIM:619028
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Dysphagia, Mildly elevated creatine kinase, Bradycardia OMIM:620265
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Short thumb, Hearing impairment, Atresia of the ex... OMIM:612562
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, EEG abnormality, Ataxia, Dystonia, Motor stereotypy, ... OMIM:618218
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms, Hypertonia OMIM:614498
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Gait ataxia, Tremor, Impaired tactile sensation, Ataxia, Overfol... OMIM:619092
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly... ORPHA:93476
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Cupped ear, Hearing impairment, Aplastic anemia, Persistence of hemog... OMIM:617052
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Bruxism, Tremor, Dystonia, Cauda... OMIM:617435
Sinoatrial Node Dysfunction And Deafness
Hearing impairment, Abnormal QRS complex, Syncope, Bradycardia, Increased heart rate variability OMIM:614896
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Temperature instability, Oculogyric crisis, Intermittent hypothermia, Limb dystoni... OMIM:608643
Episodic Ataxia Type 4
Vertigo, Abnormal head movements, Ataxia ORPHA:79136
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Shwachman-Diamond Syndrome
Aplastic anemia, Hearing impairment, Pancytopenia, Increased serum bile acid concentration, Impai... ORPHA:811
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia OMIM:300624
Endocardial Fibroelastosis
Abnormal helix morphology, Restrictive cardiomyopathy, Congestive heart failure, Low-set, posteri... ORPHA:2022
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behav... OMIM:620021
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hearing impairment, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrophy/Degeneration ... OMIM:616277
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, EEG abnormality, Bradycardia... OMIM:618815
Sarcosinemia
Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis, Infantile sensorineural hearing im... ORPHA:3129
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Compulsive behavio... OMIM:619405
Spinocerebellar Ataxia Type 37
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Developmental And Epileptic Encephalopathy 67
Recurrent hand flapping, Gait disturbance, Hypsarrhythmia, EEG abnormality, Dystonia, Athetosis OMIM:618141
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Low-set, posteriorly rotated ears, Abnormal... ORPHA:2323
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Temperature instability, Tetraparesis, Hypothermia, Action tremor, Abnormal pyramidal... ORPHA:99027
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Decreased plasma free carni... OMIM:619048
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Cerebral atrophy, Inability to walk, Bruxism, Stereotypical hand w... OMIM:618497
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance, Hyperactivity OMIM:618090
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss o... OMIM:614018
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Intestinal pseudo-obstruction, Failure to thrive, Ventricular escape rhythm, Mitr... OMIM:616201
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Decreased nerve conduction velocity, Central nervous system degenera... ORPHA:868
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hypophosph... ORPHA:289157
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ... ORPHA:340
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure, Sensorineural hearing impairment OMIM:615440
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Prominent antihelix, Failure to thrive, Clinodactyly of the 5th finger, J... OMIM:614407
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Atresia of the external auditory canal, Increased mean corpuscular... OMIM:300946
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Hearing impairment, Aggressive beha... ORPHA:369939
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hype... OMIM:614702
Hsd10 Mitochondrial Disease
Optic atrophy, Cerebral cortical atrophy, Hypertrophic cardiomyopathy, Sensorineural hearing impa... OMIM:300438
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Hearing impairment, Cardiomyopathy OMIM:301075
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Dystonia, Hypoglycemia, Spastic tetraparesis ORPHA:67046
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... OMIM:620292
Hypoglycemia, Leucine-Induced
Spasticity, Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity, Hypocalcemia, ... OMIM:603233
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dysp... OMIM:616276
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Atrial fibrillation, Failure to thrive, Ileus, Splenomegaly, Bradycardia, Elevated ci... OMIM:613327
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Inappropriate laughter, Gait ataxia, Dysphagia, Ne... ORPHA:85278
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Sensorineural hearing impairment, Protruding ear, Aggressive behavior, Att... OMIM:618342
Aminoacylase 1 Deficiency
Bradycardia, Hyperactivity, Sensorineural hearing impairment OMIM:609924
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe... ORPHA:206443
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Aggressive ... OMIM:612736
Tetanus
Elevated urinary norepinephrine level, Autonomic bladder dysfunction, Stiff neck, Tremor, Elevate... ORPHA:3299
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Diabetes And Deafness, Maternally Inherited
Vertigo, Abnormal vestibular function, Cardiomyopathy, Sensorineural hearing impairment OMIM:520000
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Hypertonia, Episodic ataxia OMIM:234500
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Unilateral renal agenesis, Small for gestational age, Hyperphosphatemia, Hearing i... OMIM:101800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Rickets, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, ... OMIM:611590
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Cerebral atrophy OMIM:617393
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Inability to wa... OMIM:614254
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Primary Erythromelalgia
Hypothermia ORPHA:90026
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Hyperglycemia, Hyperlipidemia, Gait disturbance, Tetraplegia, Mildly... OMIM:604484
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circulating very ... OMIM:617916
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Generalize... OMIM:264700
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Abnormal glucose homeostasis, Tremor, Elevated circulatin... ORPHA:90117
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hyperactivi... ORPHA:500180
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hy... OMIM:616299
Noonan Syndrome 11
Low-set ears, Hypertrophic cardiomyopathy, Atrial septal defect, Bilateral sensorineural hearing ... OMIM:618499
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopaminergic med... OMIM:616710
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Impaired pain sensation, Inability to walk, Bruxism, I... ORPHA:3095
Smith-Magenis Syndrome
Pain insensitivity, Abnormality of the outer ear, Abnormal nerve conduction velocity, Head-bangin... OMIM:182290
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Hyperphenylalaninemia, Bh4-Deficient, A
Recurrent fever, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hyperphenylalaninemia... OMIM:261640
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Renal phosphate wasting, Difficulty walking, Fibular bowing, Hyp... OMIM:241530
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Frequent fal... ORPHA:240103
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hyperactivity, Premature ovarian insufficiency, Motor stereotypy, Macrotia ORPHA:391307
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Fibular bowing, Genu valgum, Enamel hy... OMIM:307800
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy, Macrotia DECIPHER:45
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... ORPHA:352490
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Difficulty walkin... OMIM:600081
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures OMIM:146200
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hyperglycinemia, Hypothermia, Hypoglycemia OMIM:245400
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Increased mean corpuscular volume, Hearing impairment, Dilated cardiomyop... ORPHA:261250
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Cardiomyopathy, Action t... ORPHA:254886
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Hyperactivity OMIM:300434
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Sensorin... ORPHA:154
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Focal EEG disch... ORPHA:3077
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Bruxism, Self-mutilation, Ataxia, Bilateral sensorineural hearin... OMIM:619422
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Temperature instability, Incoordination, Tremor, Parkinsonism,... OMIM:618049
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... OMIM:619725
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia OMIM:618504
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Prominent ear helix, Large earlobe, Hypsarrhythmia, Multifocal epilep... ORPHA:411986
3-Methylglutaconic Aciduria Type 4
Hearing impairment, Cardiomyopathy ORPHA:67048
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Motor stereotypy, Hearing impairment, Macrotia OMIM:619877
Optic Atrophy 11
Optic atrophy, Hearing impairment, Stereotypical body rocking, Facial diplegia, Dysmetria, Attent... OMIM:617302
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Spasticity, Insulin resistance, Tetraparesis, Hyperinsulinemia, ... ORPHA:363400
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Low-set ears, Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter,... OMIM:620445
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Heari... OMIM:277440
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... OMIM:601005
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ... OMIM:613839
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, T... ORPHA:99750
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Nephrolithiasis, Pol... OMIM:617994
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Umbilical hernia, Delayed proximal fe... ORPHA:95717
Shukla-Vernon Syndrome
Cerebellar atrophy, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereoty... OMIM:301029
Blue Diaper Syndrome
Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia ORPHA:94086
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Tremor, Hyperinsulinemic hypog... ORPHA:276608
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hypomature enamel, Hematuria, Macroscopic... OMIM:248250
Juvenile Huntington Disease
Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Hyperactivity, Ataxia, Brad... ORPHA:248111
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Huntington Disease-Like 3
Cerebral cortical atrophy, Broad-based gait, Abnormal head movements, Chorea, Progressive gait at... ORPHA:157946
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Steppage gait... OMIM:618387
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia, Dysphagia OMIM:618093
Glycogen Storage Disease Iv
Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosple... OMIM:232500
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ... ORPHA:101085
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy, Cerebral atrophy OMIM:618855
D-Glyceric Aciduria
Aminoaciduria, Gastroesophageal reflux, Failure to thrive, Sensorineural hearing impairment, Opis... OMIM:220120
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Hyperinsulinism Due To Hnf1A Deficiency