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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
tremors Myo6Tlc HET Early adult 1.24×10-16
decreased startle reflex Myo6em1(IMPC)Tcp HOM Early adult 1.15×10-05
decreased heart rate Myo6em1(IMPC)Tcp HOM Early adult 1.41×10-07
decreased body temperature Myo6Tlc HET Early adult 3.16×10-08
increased lean body mass Myo6em1(IMPC)Tcp HOM Early adult 1.92×10-05
decreased body length Myo6em1(IMPC)Tcp HOM Early adult 2.45×10-12
decreased circulating triglyceride level Myo6Tlc HET Early adult 8.59×10-07
decreased leukocyte cell number Myo6em1(IMPC)Tcp HOM Early adult 2.39×10-05
decreased anxiety-related response Myo6em1(IMPC)Tcp HOM Early adult 4.86×10-12
enlarged urinary bladder Myo6em1(IMPC)Tcp HOM Early adult 0.00
increased circulating alkaline phosphatase level Myo6em1(IMPC)Tcp HOM Early adult 1.24×10-11
increased circulating phosphate level Myo6em1(IMPC)Tcp HOM   Early adult 8.03×10-05
decreased circulating amylase level Myo6Tlc HET Early adult 2.24×10-08
increased mean corpuscular volume Myo6em1(IMPC)Tcp HOM Early adult 1.07×10-06
abnormal startle reflex Myo6em1(IMPC)Tcp HOM Early adult 3.98×10-16
decreased circulating glucose level Myo6Tlc HET Early adult 1.90×10-05
abnormal sternum morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
head bobbing Myo6em1(IMPC)Tcp HOM Early adult 5.55×10-19
increased heart weight Myo6em1(IMPC)Tcp HOM   Early adult 4.54×10-05
decreased bone mineral content Myo6em1(IMPC)Tcp HOM Early adult 3.44×10-05
decreased grip strength Myo6em1(IMPC)Tcp HOM Early adult 1.98×10-07
decreased bone mineral density Myo6em1(IMPC)Tcp HOM Early adult 6.91×10-06
hyperactivity Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating potassium level Myo6em1(IMPC)Tcp HOM Early adult 9.11×10-05
abnormal gait Myo6em1(IMPC)Tcp HOM Early adult 2.58×10-11
decreased total body fat amount Myo6em1(IMPC)Tcp HOM Early adult 5.07×10-05
abnormal auditory brainstem response Myo6em1(IMPC)Tcp HOM   Early adult 1.23×10-06
abnormal uterus morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
hyperactivity Myo6Tlc HET Early adult 2.77×10-11
prolonged RR interval Myo6em1(IMPC)Tcp HOM Early adult 8.41×10-09
decreased prepulse inhibition Myo6em1(IMPC)Tcp HOM Early adult 0.00
abnormal stomach morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
increased vertical activity Myo6Tlc HET Early adult 7.74×10-07
abnormal behavior Myo6em1(IMPC)Tcp HOM Early adult 2.68×10-16

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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.

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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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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Histopathology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

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
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Schizophrenia 15
Hyperactivity OMIM:613950
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
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
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder 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
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300425
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior, Hearing impairment OMIM:620038
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
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:607373
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
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
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Deafness, Autosomal Dominant 9
Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve... OMIM:601369
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300495
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231183
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Dysphagia, Hand tremor, Gait ataxia, Atrophy/Degeneration a... OMIM:617862
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Inability to ... ORPHA:52368
Sandhoff Disease, Adult Form
Dystonia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia... ORPHA:309169
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, EEG abnormality, Falls, Inappropriate laughter, Br... OMIM:619150
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar... OMIM:615924
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia OMIM:617830
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Migraine, Familial Hemiplegic, 1
Fever, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Hypothermia, Inability to walk, Chorea, Spasticity OMIM:618557
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... OMIM:619470
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Recurrent infections of the midd... ORPHA:217622
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms OMIM:239500
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment OMIM:620270
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Depression, Abnor... ORPHA:36913
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia OMIM:615026
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiom... OMIM:605362
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia, Ankle clonus, Spasticity OMIM:616657
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy, Cerebral co... OMIM:300983
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:608049
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Bruxism, Self-injurious behavior, EEG abnormality, Brain atrophy, Low-set ears, Ab... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations OMIM:615048
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Hypothermia, Gait disturbance ORPHA:29822
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia, Recur... OMIM:261630
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Brunner Syndrome
Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior OMIM:300615
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca... ORPHA:599373
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Tre... ORPHA:94093
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Self-injurious behavior, EEG abnormality, Dystonia, Stereotypical hand... OMIM:618760
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral cortical atrophy, EEG abnormality OMIM:617820
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Recurrent hand flapping, Posteriorly rotated ears, Low-set ears OMIM:618147
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder OMIM:617113
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav... ORPHA:382
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... OMIM:618917
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... OMIM:301107
Pseudohypoparathyroidism Type 1A
Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan... ORPHA:79443
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia, Torticollis ORPHA:71518
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive... OMIM:619690
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... OMIM:617021
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Pseudohypoparathyroidism Type 1C
Short metatarsal, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the thumb, Laryngeal... ORPHA:79444
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... ORPHA:276435
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... OMIM:616269
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis, Increased bone mineral density, Cortical subperiosteal resorpt... ORPHA:94089
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f... ORPHA:79445
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,... ORPHA:251282
Autosomal Dominant Hypocalcemia
Writer's cramp, Congestive heart failure, Optic atrophy, Hypercalciuria, Reduced bone mineral den... ORPHA:428
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:612069
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Distal sensory impairment, Abnormal speech ... OMIM:300614
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Hemolytic-uremic syndrome, Osteop... ORPHA:2169
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Obesity, Hyperphosphatemia, Hypogona... OMIM:103580
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Cln3 Disease
Ataxia, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Depression, T-wave inversion,... ORPHA:228346
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Macrotia, Stereotypical hand wringing ORPHA:397933
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Optic atrophy, Dystonia, Hypertrophic cardiomyopathy, Hearing impairment OMIM:618237
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Ventricular septal defect, Shor... OMIM:612561
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Increased ur... OMIM:239000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Osteoporosis, Short metatarsal, Obesity, Hyperphosphatemia, Hypogonadism, Hypoc... OMIM:612462
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a... ORPHA:275864
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Optic atrophy, Supraventricular arrhythmia ORPHA:320360
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Attention deficit hyper... OMIM:617182
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Hypertonia, Hypothermia, Dystonia OMIM:614654
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Dysto... OMIM:600795
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy OMIM:610100
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recu... OMIM:300624
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia OMIM:128235
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici... OMIM:606159
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... OMIM:302500
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... OMIM:617695
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ank... ORPHA:521406
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Myoclonus OMIM:605899
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Intermittent hypothermia, Oculogyric crisis, Tongue th... OMIM:608643
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Patchy osteosclerosis, Cryptorchidism, Small hand, Short foot, Hyperpho... OMIM:241410
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy, Sensorineural hearing impairment OMIM:612989
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys... ORPHA:251061
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Intellectual Developmental Disorder, Autosomal Recessive 73
Impulsivity, Recurrent hand flapping, Posteriorly rotated ears, Low-set ears OMIM:619717
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Cerebral atrophy, Dysphagia... OMIM:617435
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase, Dysphagia OMIM:620265
Endocardial Fibroelastosis
Low-set, posteriorly rotated ears, Congestive heart failure, Cryptorchidism, Abnormal helix morph... ORPHA:2022
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardi... OMIM:618235
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick... OMIM:614104
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Dystonia, A... OMIM:618218
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Ventricular septal defect, Bradycardia, Brain atrophy, Atrophy/Degeneration affecting t... OMIM:616277
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Hartnup Disorder
Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder OMIM:234500
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Brain atrophy, Low-se... OMIM:619092
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Hypothermia, Rigidity, Babinski sign, Hypertonia, Myoclonic spasms, Limb hypertonia OMIM:614498
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... ORPHA:811
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment OMIM:614896
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Sensorineural hearing impairment, Ca... ORPHA:93476
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short th... OMIM:612562
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Congestive heart failure,... OMIM:619048
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, EEG abnormality, Athetosis, Gait disturbance, Dystonia, Recurrent hand flapping OMIM:618141
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... ORPHA:1215
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... ORPHA:99027
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Intestinal obstruction, Abnormal dental e... ORPHA:2323
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... ORPHA:363710
Sarcosinemia
Hypertrophic cardiomyopathy, Optic atrophy, Infantile sensorineural hearing impairment, Pulmonic ... ORPHA:3129
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... ORPHA:94090
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, EEG abnorma... OMIM:618815
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Hypertrophic cardiomyopathy, Central nervous system degenera... ORPHA:868
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Spasticity, Ataxia, Hypoglycemia OMIM:240800
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... ORPHA:454887
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation... ORPHA:90117
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Cerebral atrophy, Choreoathetosis, Bruxism, Conductive hearing impairment, Ste... OMIM:618497
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Bra... OMIM:614702
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Tapered finger, Long fingers, Atrioventricular block, Truncal ataxia, Prominen... OMIM:614407
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... ORPHA:35878
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Bi... OMIM:616201
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy, Sensorineural hearing impairment OMIM:615440
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, B... ORPHA:369939
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Hypoglycemia, Spastic tetraparesis, Dystonia ORPHA:67046
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cardiomyopathy, Myofiber disarray, Hearing impairment OMIM:301075
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hand tremor, Tetraplegia, Gait disturbance, Fasciculations, Hyperglycemia, Mildly... OMIM:604484
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Tetanus
Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Elevated urinary nor... ORPHA:3299
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT... OMIM:603233
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo... OMIM:616276
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Christianson Syndrome
Cerebellar atrophy, Dysphagia, Gait ataxia, Inappropriate laughter, Neuronal loss in central nerv... ORPHA:85278
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Sensorineural hearing impairment, Hepatomegaly OMIM:610717
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Lipodystrophy, Elevated circ... OMIM:613327
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia, Sensorineural hearing impairment OMIM:609924
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Nephrocalc... OMIM:611590
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Bruxism, Protruding ear, Br... OMIM:618342
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Cerebral atrophy OMIM:617393
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Optic atrophy, Cardiomyopathy, Dystonia, Hearing impairment ORPHA:401768
Diabetes And Deafness, Maternally Inherited
Vertigo, Cardiomyopathy, Sensorineural hearing impairment, Abnormal vestibular function OMIM:520000
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Small for gestational age, Hearing impairment, Unilateral renal ... OMIM:101800
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Cryptorchidism, Compulsive behaviors, Low-set ears... ORPHA:352490
Primary Erythromelalgia
Hypothermia ORPHA:90026
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain... OMIM:617916
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Hyperphenylalanin... OMIM:233910
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to ... ORPHA:500180
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Optic atrophy, Abnormal mitochondrial morphology, Choreoathetos... OMIM:300438
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Sel... OMIM:614254
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypocalcemia,... OMIM:264700
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Dystonia, Pulmonary ... OMIM:616299
Noonan Syndrome 11
Posteriorly rotated ears, Bilateral sensorineural hearing impairment, Low-set ears, Pulmonic sten... OMIM:618499
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves ORPHA:2382
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Rickets, Renal tubular dysf... ORPHA:213
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Hyper... OMIM:261640
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favora... OMIM:616710
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib... OMIM:241530
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
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hyperglycinemia, Hypothermia, Hypertaurinemia OMIM:245400
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... ORPHA:240103
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... OMIM:616689
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Macrotia, Abnormal repetitiv... ORPHA:391307
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase... OMIM:300946
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms DECIPHER:45
Cln5 Disease
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Tremor, Inability to w... ORPHA:228360
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costochondral junc... OMIM:600081
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Facial palsy, Action tremor, Optic atrophy, Cerebral atrophy, Cardiomyopathy,... ORPHA:254886
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism OMIM:300434
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insulin resistance,... ORPHA:363400
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Optic atrophy, Dysphagia, Cerebral atrophy, Choreoathetosis, Bilateral sensorineural hear... OMIM:619422
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... ORPHA:206443
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-... ORPHA:64753
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Hearing impairment ORPHA:67048
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase... ORPHA:398063
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Cryptorchidism, D... ORPHA:261250
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Occipital... ORPHA:411986
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati... ORPHA:3077
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... ORPHA:98870
Familial Isolated Dilated Cardiomyopathy
Sensorineural hearing impairment, Dilated cardiomyopathy ORPHA:154
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thro... OMIM:613839
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp... OMIM:618387
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con... ORPHA:231222
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Agitation, Fasting hypoglycemia, Hyperinsulinemi... ORPHA:276608
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... ORPHA:248111
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, Dysmetria, ... OMIM:617302
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia ORPHA:94086
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, Corpus cal... ORPHA:168491
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
D-Glyceric Aciduria
Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Nonketotic hyperglyci... OMIM:220120
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Absent brainstem audito... ORPHA:101085
Shukla-Vernon Syndrome
Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A... OMIM:301029
Menkes Disease
Hypertonia, Babinski sign, Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglycem... ORPHA:159
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy, Cerebral atrophy OMIM:618855
Rapid-Onset Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia, C... ORPHA:71517
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Myoglobinuria, Ventricular tachycardia, Hyperkalemia, Cardi... ORPHA:423
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Abnormality of... ORPHA:171445
Calciphylaxis