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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
abnormal stomach morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
abnormal auditory brainstem response Myo6em1(IMPC)Tcp HOM   Early adult 1.73×10-06
increased mean corpuscular volume Myo6em1(IMPC)Tcp HOM Early adult 1.07×10-06
increased circulating alkaline phosphatase level Myo6em1(IMPC)Tcp HOM Early adult 2.16×10-11
decreased circulating glucose level Myo6Tlc HET Early adult 1.90×10-05
increased circulating phosphate level Myo6em1(IMPC)Tcp HOM   Early adult 8.03×10-05
hyperactivity Myo6Tlc HET Early adult 2.77×10-11
abnormal sternum morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased grip strength Myo6em1(IMPC)Tcp HOM Early adult 1.95×10-07
decreased body temperature Myo6Tlc HET Early adult 3.16×10-08
abnormal gait Myo6em1(IMPC)Tcp HOM Early adult 3.40×10-11
decreased bone mineral density Myo6em1(IMPC)Tcp HOM Early adult 6.99×10-06
decreased circulating amylase level Myo6Tlc HET Early adult 2.24×10-08
increased vertical activity Myo6Tlc HET Early adult 7.74×10-07
increased lean body mass Myo6em1(IMPC)Tcp HOM Early adult 3.34×10-05
decreased body length Myo6em1(IMPC)Tcp HOM Early adult 2.73×10-12
decreased heart rate Myo6em1(IMPC)Tcp HOM   Early adult 1.39×10-05
tremors Myo6Tlc HET   Early adult 1.24×10-16
increased heart weight Myo6em1(IMPC)Tcp HOM   Early adult 8.49×10-05
decreased startle reflex Myo6em1(IMPC)Tcp HOM Early adult 1.49×10-06
head bobbing Myo6em1(IMPC)Tcp HOM Early adult 9.08×10-19
abnormal behavior Myo6em1(IMPC)Tcp HOM Early adult 3.94×10-16
prolonged RR interval Myo6em1(IMPC)Tcp HOM Early adult 3.05×10-05
decreased prepulse inhibition Myo6em1(IMPC)Tcp HOM Early adult 0.00
hyperactivity Myo6em1(IMPC)Tcp HOM Early adult 0.00
abnormal startle reflex Myo6em1(IMPC)Tcp HOM Early adult 6.12×10-16
decreased circulating triglyceride level Myo6Tlc HET Early adult 8.59×10-07
decreased circulating potassium level Myo6em1(IMPC)Tcp HOM Early adult 9.11×10-05
enlarged urinary bladder Myo6em1(IMPC)Tcp HOM Early adult 0.00
abnormal uterus morphology Myo6em1(IMPC)Tcp HOM Early adult 0.00
decreased anxiety-related response Myo6em1(IMPC)Tcp HOM Early adult 4.85×10-12
decreased bone mineral content Myo6em1(IMPC)Tcp HOM   Early adult 4.13×10-06
decreased leukocyte cell number Myo6em1(IMPC)Tcp HOM Early adult 2.39×10-05
decreased total body fat amount Myo6em1(IMPC)Tcp HOM Early adult 5.43×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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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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 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
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction OMIM:607821

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Vestibular dysfunction, Progressive hearing impairment OMIM:616044
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Incoordination, Tremor, Spasti... OMIM:160120
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... ORPHA:95433
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality OMIM:300425
Autism
Motor stereotypy, EEG abnormality OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality OMIM:608636
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Hearing impairment, Inability to walk, Attention deficit hyperactivity disorder OMIM:620038
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity DECIPHER:8
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Ataxia, Myoclonus OMIM:159800
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk OMIM:606053
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Attention deficit hyperactivity disorder OMIM:617863
Gilles De La Tourette Syndrome
Phonic tics, Attention deficit hyperactivity disorder, Motor tics OMIM:137580
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Abn... ORPHA:231169
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tr... OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Immunodeficiency 8
Hyperactivity OMIM:615401
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Optic atrophy, Hypsarrhythmia OMIM:617830
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... ORPHA:251282
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Spasticity, Atrophy/Degeneration affecting the brain... ORPHA:99852
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Laryngeal dystonia, Irritability, Increased bon... ORPHA:36913
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Laryngeal dystonia, Irritability, Increased bone mineral dens... ORPHA:94089
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia, Unsteady gait OMIM:614063
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Sensorineural Deafness With Dilated Cardiomyopathy
Recurrent infections of the middle ear, Dilated cardiomyopathy, Hearing impairment, Abnormal card... ORPHA:217622
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Developmental And Epileptic Encephalopathy 78
Hypothermia, Inability to walk, Cerebral palsy, Chorea, Spasticity OMIM:618557
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, EEG abnormality OMIM:300495
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Cerebral cortical atrophy, Optic atrophy, Tremo... OMIM:300983
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia OMIM:615026
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hyperactivity, Optic atrophy, Tremor, Spastic tetraparesis OMIM:619470
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Cerebral atrophy, Ankle clonus, Babinski sign, Spasticity, Spas... OMIM:616657
Episodic Ataxia Type 4
Frequent falls, Incoordination, Ataxia, Abnormal head movements ORPHA:79136
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... OMIM:616648
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Hypsarrhythmia OMIM:616341
Deafness, Autosomal Dominant 41
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment OMIM:608224
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Hyperactivity, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Falls, Chorea, Paroxysmal dyskinesi... OMIM:619150
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Cardiomyopathy, Dilated, 1J
Sensorineural hearing impairment, Abnormal left ventricular function, Sudden cardiac death, Dilat... OMIM:605362
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Abnormal C-peptide level, ... ORPHA:79299
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Hyperactivity, Brain atrophy, Tremor, Spasticity, Low-set ears OMIM:618718
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia, Tremor ORPHA:29822
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Athetosis, Progressive extrapyramidal movement disorder, Abnormal head movements,... ORPHA:382
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Elevated circulating creatine kinase concentration, Fasciculations OMIM:615048
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination OMIM:617182
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Hyperactivity OMIM:239500
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Chorea, Tremor, Proteinuria, Hyperuricemia, Oculogyric crisis, ... ORPHA:94093
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, Cerebral atrophy, EEG with focal epileptiform discharges, Chorea... ORPHA:88616
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Cerebral atrophy, Spasticity OMIM:617393
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Brain atrophy, Dysmetria, Hyperkinetic movements, Optic a... OMIM:617302
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Migraine, Familial Hemiplegic, 1
Hemiplegia, Fever, Ataxia, Hemiparesis, Tremor OMIM:141500
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, EEG abnormality, Cerebral cortical atrophy, Involuntary movements, Spasticity OMIM:617820
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Pseudohypoparathyroidism Type 1A
Laryngeal dystonia, Hypergonadotropic hypogonadism, Short 3rd metacarpal, Calcinosis, Broad dista... ORPHA:79443
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia OMIM:300660
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Prolo... ORPHA:94090
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Stereotypical hand wringing, Chorea OMIM:618760
Pendred Syndrome
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... ORPHA:705
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Cortical myoclonus, Reduced bone mineral density, Depression, Fatig... ORPHA:428
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Acropares... ORPHA:206443
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction OMIM:607821
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Pseudohypoparathyroidism Type 1C
Laryngeal dystonia, Hypergonadotropic hypogonadism, Short 3rd metacarpal, Calcinosis, Broad dista... ORPHA:79444
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Huntington Disease-Like 3
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... ORPHA:157946
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Lower limb hypertonia, Hypomet... ORPHA:2169
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... OMIM:125250
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Tremor, Kinetic tremor OMIM:611808
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Cerebral atrophy, Spasticity, Hypsarrhythmia ORPHA:500545
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Cerebral atrophy, Stereotypical hand wringing, Chorea, Gait ... OMIM:618917
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... OMIM:619092
Chorea, Benign Familial
Chorea OMIM:215450
Combined Oxidative Phosphorylation Deficiency 17
Hearing impairment, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity, Cerebral atrophy, Cerebellar atrophy OMIM:609924
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Glutathionuria
Tremor OMIM:231950
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Pseudohypoparathyroidism, Type Ia
Short toe, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Short finger, Hyp... OMIM:103580
Hyperphenylalaninemia, Bh4-Deficient, C
Recurrent fever, Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hyperphenylalaninemia, Dystonia OMIM:261630
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Atrial septal defect, Cleft palate, Tracheo... OMIM:612561
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Rigidity, Elevated circulating creatine kinase concentration, Tachycardia, Hypoten... OMIM:145600
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:619690
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Hypertonia, Tremor, 3-Methylglutaconic aciduria, Neutropenia, D... OMIM:617248
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Distal sensory impairment, Decreased nerve conduction velocity, Abnormal audi... OMIM:601455
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, EEG abnormality, Hyperkinetic movements, Choreoathet... OMIM:618218
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Difficulty walking, Hype... ORPHA:99845
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Incr... OMIM:239000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Cryptorchidism, Micropenis, Small hand, Patchy osteosclerosis, Bifid uvula, Hyperph... OMIM:241410
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... ORPHA:157941
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Spasticity, Ocul... OMIM:612716
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Hypogonad... OMIM:612462
Cln5 Disease
EEG with focal spikes, Poor gross motor coordination, Ataxia, Clumsiness, Atrophy/Degeneration af... ORPHA:228360
Atrial Standstill
Hemiplegia, Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Left ventricular non... ORPHA:1344
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... ORPHA:1435
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Cerebellar atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Dystonia OMIM:618237
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Lower limb spasticity, Bradykinesia OMIM:618878
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Low-set ears, Recurrent hand flapping OMIM:620021
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... OMIM:600795
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... OMIM:617695
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy OMIM:610100
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Autism, Susceptibility To, 3
Motor stereotypy, EEG abnormality OMIM:608049
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Left ventricular hypertrophy, Hyperalaninemia, Dystonia, Bradycardia OMIM:614654
Shwachman-Diamond Syndrome
Hepatomegaly, Steatorrhea, Osteopenia, Aplastic anemia, Macrocytic anemia, Proximal femoral epiph... ORPHA:811
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa... OMIM:601596
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, External ear mal... ORPHA:107
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements OMIM:245348
Myopathy, Spheroid Body
Broad-based gait, Tremor, Elevated circulating creatine kinase concentration, Waddling gait OMIM:182920
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Osteopenia, Osteo... OMIM:612562
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Spasticity OMIM:240800
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy OMIM:612989
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Abnormal heart valve morphology, Ca... ORPHA:93476
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Brain atrophy, Atrophy/Degeneration affecting the brainstem, Ventricular septal defect, Hearing i... OMIM:616277
Endocardial Fibroelastosis
Abnormal helix morphology, Restrictive cardiomyopathy, Low-set, posteriorly rotated ears, Endocar... ORPHA:2022
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Hearing impairment, Bradycardia OMIM:614896
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... OMIM:615491
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... OMIM:261000
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... ORPHA:352490
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased... OMIM:619048
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... ORPHA:247815
Tetanus
Hypertonia, Opisthotonus, Abnormal autonomic nervous system physiology, Elevated circulating crea... ORPHA:3299
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... ORPHA:363710
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia OMIM:617113
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Chvostek sign, Hyperphosphatemia, Nephrocalcinosis, Hypocalcemic seiz... OMIM:146200
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
EEG abnormality, Flexion contracture, Micropenis, Hypospadias, Dilated cardiomyopathy, Cryptorchi... OMIM:618815
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Abnormal autonomic nervous system physiology, Flexion contracture, Inguinal hernia, B... OMIM:614498
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Intention tremor, Truncal ataxia, Tapered fing... OMIM:614407
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Abnormal pinna morphology, Ataxia, Hyperactivity, Cerebral cortical atrophy, St... OMIM:614104
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... OMIM:213600
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Gait... ORPHA:216873
Hyperphenylalaninemia, Bh4-Deficient, A
Recurrent fever, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosi... OMIM:261640
Sanjad-Sakati Syndrome
Hypocalcemia, Hypoplasia of penis, Small hand, Patchy osteosclerosis, External ear malformation, ... ORPHA:2323
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Hypertrophic cardiomyopathy, Decreased nerve conduction velo... ORPHA:868
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Spastic tetraparesis, Dystonia, Pulmonary arterial hypertension, Abnor... OMIM:616299
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... ORPHA:99027
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Myoclonus, ... ORPHA:248111
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Stepp... OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Snijders Blok-Campeau Syndrome
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait, Low-set ears OMIM:618205
Sarcosinemia
Optic atrophy, Pulmonic stenosis, Infantile sensorineural hearing impairment, Hypertrophic cardio... ORPHA:3129
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration, Tremor... OMIM:614018
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hypertonia, Hyperactivity, Hemiparesis OMIM:604317
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Cerebral cortical atrophy, Babinski sign, Spastic dysarthria, Difficulty walkin... ORPHA:280763
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Cryptorc... OMIM:101800
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... ORPHA:276435
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Hepatomegaly, Cardiomyopathy OMIM:610717
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Brachydactyly, Hyperphosphatemia, Obesity, Short metacarpal, Low urinary cyclic AMP... OMIM:603233
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Hyperactivity, Brain atrophy, Abnormal pyramidal sign, Corpus callosum... ORPHA:369939
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Sensorineural hearing impairment, Protruding ear, Hyperactivity, Brain atrophy,... OMIM:618342
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Cerebral cortical atrophy, Abnormal mitochondrial morphology, O... OMIM:300438
Primary Erythromelalgia
Hypothermia ORPHA:90026
Timothy Syndrome
Hypocalcemia, Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, P... OMIM:601005
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Abnormal amplitu... ORPHA:168491
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Myopathy, Distal, 7, Adult-Onset, X-Linked
Hearing impairment, Cardiomyopathy, Myofiber disarray OMIM:301075
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Dystonia OMIM:616113
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder OMIM:613670
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Intermi... OMIM:608643
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Femoral bowing, Thin bony cortex, Difficulty walking, Bulging of the costochondral junction, Meta... OMIM:264700
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Recurrent fractures, Precocious puberty, Abnormal hip bone morphology, Abnormal penis morphology,... ORPHA:457059
Malignant Hyperthermia, Susceptibility To, 3
Hypertonia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Noonan Syndrome 11
Atrial septal defect, Pulmonic stenosis, Low-set ears, Hypertrophic cardiomyopathy, Posteriorly r... OMIM:618499
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Loss of ambulation, EEG abnormality, Decreased nerve conduction velocity, Congenita... ORPHA:565624
Adult Krabbe Disease
Broad-based gait, Hemiplegia, Ataxia, Acroparesthesia, Clumsiness, EEG abnormality, Hoffmann sign... ORPHA:206448
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction, Cardiomyopathy OMIM:520000
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... ORPHA:98870
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
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Hypothermia, Hyperglycinemia, Hypertaurinemia OMIM:245400
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, EEG abnormality, Hand apraxia, Pill-rolling tremor, Stereo... ORPHA:3095
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Prominent ear helix, Large earlobe, Myoclonus, Hypsarrhythmia, Multifocal epile... ORPHA:411986
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Ataxia, Dysmetria, Intention tremor, Babinski sign, Head titubation, Optic atrophy OMIM:618688
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Hyperactivity, Insulin resistance, Myoclonus, Abnormal pyramidal sign, ... ORPHA:363400
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, EEG abnormality, Abnormality of extrapyramidal motor function, ... ORPHA:500180
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Macrotia, Hearing impairment OMIM:619877
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methy... OMIM:277410
D-Glyceric Aciduria
Sensorineural hearing impairment, Failure to thrive, Gastroesophageal reflux, Aminoaciduria, Opis... OMIM:220120
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Abnormal head movements, Macrotia OMIM:300624
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elevated circulating creat... ORPHA:340
Autosomal Recessive Progressive External Ophthalmoplegia
Action tremor, Cerebral atrophy, Facial palsy, Optic atrophy, Cerebellar atrophy, Hearing impairm... ORPHA:254886
Familial Isolated Dilated Cardiomyopathy
Sensorineural hearing impairment, Dilated cardiomyopathy ORPHA:154
Spinocerebellar Ataxia Type 36
Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Truncal ataxia, Hea... ORPHA:276198
Nystagmus, Hereditary Vertical
Ataxia, Abnormal vestibulo-ocular reflex OMIM:164150
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Failure to thrive, Hypophosphatemia, Delayed epiphyseal ossification, Sparse... OMIM:600081
3-Methylglutaconic Aciduria Type 4
Hearing impairment, Cardiomyopathy ORPHA:67048
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, ... OMIM:619317
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Ileus, Hepatomegaly, Flexion contracture, Splenomegaly, Osteopenia, Elevated c... OMIM:613327
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Recurrent hand flapping, Cerebral atrophy, Macrotia OMIM:617268
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Femoral bowing, Thin bony cortex, Difficulty walking, Bulging of the costochondral junction, Rena... OMIM:241530
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia, Irritability OMIM:239350
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Motor tics OMIM:619927
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Temperature ... OMIM:618049
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Irritability, Resting tr... ORPHA:3077
Idiopathic Congenital Hypothyroidism
Macroglossia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Um... ORPHA:95717
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Parkinsonism, Att... OMIM:617384
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Frontotemporal cerebral atrophy, EEG with continuous slow activity, Fasciculati... ORPHA:275864
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Malabsorption, Hypoproteinemia, Increased proport... ORPHA:398063
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Elevated circulating creatine kinase concentration, Limb fasciculations, Tremo... ORPHA:90117
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Macrotia, Anteverte... ORPHA:544254
Combined Oxidative Phosphorylation Deficiency 33
Sensorineural hearing impairment, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Car... OMIM:617713
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hypertonia, Hyperactivity, Tetraplegia OMIM:274270
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Recurrent fractures, Hypophosphatemia, Delayed epiphyseal ossification, Irrita... OMIM:277440
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... OMIM:617807
Christianson Syndrome
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Truncal ata... ORPHA:85278
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity, Premature ovarian insufficiency, Macrotia ORPHA:391307
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Arrhythmia, Progressive hearing impairment, Parkinsonism, Gait disturbance, Hypogonad... OMIM:609286
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... ORPHA:101085
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Osteopenia, Abn... ORPHA:231222
Cystinosis
Renal tubular dysfunction, Motor stereotypy, Failure to thrive, Hypophosphatemia, Hypokalemia, Am... ORPHA:213
Calciphylaxis
Ectopic ossification, Cellulitis, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Myoclonus, Falls, EEG with focal sharp slow waves ORPHA:2382
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, ... OMIM:619405
Menkes Disease
Hypothermia, Babinski sign, Decreased circulating ceruloplasmin concentration, Hypertonia OMIM:309400
Distal Monosomy 10Q
Facial diplegia, Protruding ear, Cochlear malformation, Congenital sensorineural hearing impairme... ORPHA:96148
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, High palate, Protruding ear, Cryptorchidism, Optic nerve hypop... ORPHA:261250
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... ORPHA:97214
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking, Optic disc drusen OMIM:204000
Infantile Refsum Disease
Sensorineural hearing impairment, Hepatomegaly, Facial palsy, Arrhythmia, Optic atrophy, Hearing ... ORPHA:772
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy, Cerebral atrophy OMIM:618855
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Pick Disease Of Brain
Motor stereotypy, Neuronal loss in central nervous system OMIM:172700
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Hypoglycemia, Progressive cerebellar ataxia, Dystonia ORPHA:67046
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hyperammonemia, Elevated creatine ... ORPHA:159
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity OMIM:210000
Leigh Syndrome With Leukodystrophy
Optic atrophy, Ventricular septal defect, Hearing impairment, Hypertrophic cardiomyopathy, Dystonia ORPHA:255241
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Cardiomyopathy OMIM:614879
Myopathy, Myofibrillar, 1