Gene Summary

Name:
myosin VIIA
Synonyms:
Hdb,  nmf371,  polka,  Myo7,  USH1B

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
stereotypic behavior Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.56×10-16
abnormal bone mineralization Myo7aHdb HOM Early adult 1.80×10-11
abnormal behavior Myo7aHdb HOM   Early adult 2.55×10-05
increased blood urea nitrogen level Myo7atm1a(EUCOMM)Wtsi HOM Early adult 9.22×10-05
impaired righting response Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.38×10-08
decreased body weight Myo7aHdb HOM Early adult 4.31×10-34
increased bone mineral content Myo7aHdb HOM Early adult 2.49×10-07
trunk curl Myo7atm1a(EUCOMM)Wtsi HOM Early adult 7.01×10-20
decreased lean body mass Myo7aHdb HOM Early adult 1.24×10-07
increased total body fat amount Myo7aHdb HOM Early adult 6.16×10-16
decreased body length Myo7aHdb HOM Early adult 5.57×10-07
persistence of hyaloid vascular system Myo7atm1a(EUCOMM)Wtsi HOM Early adult 2.21×10-05
increased circulating sodium level Myo7atm1a(EUCOMM)Wtsi HOM   Early adult 8.21×10-06
absent pinna reflex Myo7atm1a(EUCOMM)Wtsi HOM Early adult 1.05×10-18
abnormal locomotor activation Myo7aHdb HOM Early adult 5.49×10-07
decreased bone mineral density Myo7aHdb HOM   Early adult 1.82×10-05
increased lean body mass Myo7aHdb HOM Early adult 1.47×10-11
increased thermal nociceptive threshold Myo7aHdb HOM Early adult 9.18×10-06

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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

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

12 Images

Legacy Phenotype Associated Images

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View all 7 images

Human diseases caused by Myo7a 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 predicted to be associated to Myo7a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
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
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
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 Dominant 18
Progressive hearing impairment OMIM:606012
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 1B
Hearing impairment, Abnormal vestibular function OMIM:612645
Deafness, Autosomal Recessive 84A
Hearing impairment, Abnormal vestibular function OMIM:613391
Deafness, Autosomal Dominant 65
Progressive hearing impairment, Abnormal vestibular function OMIM:616044
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Deafness, Autosomal Recessive 25
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Usher Syndrome, Type Id
Hearing impairment, Abnormal vestibular function OMIM:601067
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 Recessive 74
Hearing impairment OMIM:613718
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Auditory Neuropathy, Autosomal Dominant 2
Sensorineural hearing impairment, Abnormal speech discrimination OMIM:620384
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Facial Paresis, Hereditary Congenital, 2
Hearing impairment OMIM:604185
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Hearing impairment, Abnormal vestibular function OMIM:614934
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment, Absent vestibular function OMIM:607084
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619174
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616969
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616357
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618410
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618481
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment, Abnormal vestibular function OMIM:609965
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment, Abnormal vestibular function OMIM:605583
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Autism
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:607373
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Abnormal vestibular function, Vertigo OMIM:600060
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
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 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Deafness, Autosomal Recessive 55
Hearing impairment, Abnormal vestibular function OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment, Abnormal vestibular function OMIM:609946
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Impulsivity, Limb dystonia, Rigidity, Dysphagia, Clumsiness, Optic atrophy, Irritability,... ORPHA:216873
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears, Abnormal social behavior ORPHA:436151
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia ORPHA:71518
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Reduced social reciprocity, Motor stereot... OMIM:608636
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action tremor, Focal dystoni... ORPHA:98807
Huntington Disease-Like 1
Global brain atrophy, Depression, Chorea, Incoordination, Basal ganglia gliosis, Rigidity, Unstea... OMIM:603218
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Abnormal head movements, Ataxia, Self-injurious behavior, Aggressive be... ORPHA:382
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Huntington Disease
Decreased body mass index, Chorea, Choking episodes, Rigidity, Myoclonus, Clumsiness, Aggressive ... ORPHA:399
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Abnormal vestibular function, Bilateral sensorineural hearing i... OMIM:610265
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Dystonia 31
Abnormal posturing, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Dysphagia,... OMIM:619565
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Depression, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dys... ORPHA:401901
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Falls, Chorea, Inappropriate laughter, Ataxia, Dystonia, Motor stereotypy,... OMIM:619150
Spinocerebellar Ataxia 17
Chorea, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Rigidity, Ataxia, Dysphagia, Myoc... OMIM:607136
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Abnormal vestibula... OMIM:601869
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Irritability, Aggressive behavior, Lower limb spasticity, Chorea, Torsion ... ORPHA:98811
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Jerky head movements, Limb ataxia, Difficulty walking, Dysphagia, Spastic ataxia ORPHA:251282
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abno... ORPHA:275872
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chore... ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Pick Disease Of Brain
Irritability, Emotional blunting, Neuronal loss in central nervous system, Gliosis, Polyphagia, I... OMIM:172700
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gait imbalance, Depression, Spasticity, Gliosis, Cerebellar atrophy, Frequent falls,... OMIM:618369
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Spinocerebellar Ataxia 48
Babinski sign, Irritability, Depression, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxi... OMIM:618093
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Difficulty walking, Chorea, Incoordination, Lingual dystonia, Poor motor coordinat... OMIM:500003
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Obesity, Ataxia, Intrauterine growth re... OMIM:620270
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:612712
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal hea... ORPHA:247815
Basal Ganglia Calcification, Idiopathic, 5
Depression, Chorea, Vertigo, Athetosis, Parkinsonism, Motor tics, Postural tremor, Hand tremor OMIM:615483
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Global brain atrophy, Apraxia, Depression, Neuronal loss in central nervous system,... OMIM:221820
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Stereotypical hand wringing, Dystonia, Self-injurious behavior OMIM:618760
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Huntington Disease-Like 1
Bradykinesia, Jerky head movements, Depression, Chorea, Incoordination, Poor fine motor coordinat... ORPHA:157941
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebral atrophy, Hyperkinetic movements, Inability to walk, Oculogyric crisis, Chorea, Spasticit... OMIM:614254
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H... OMIM:620085
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Unsteady gait, Motor stereotypy, Self-mutilation OMIM:614063
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Recurrent han... OMIM:617862
Sydenham Chorea
Inappropriate behavior, Hemiballismus, Irritability, Emotional lability, Chorea, Compulsive behav... ORPHA:306731
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Abnormal vestibular f... OMIM:611102
Chromosome Xq21 Deletion Syndrome
Chorioretinal degeneration, Chorioretinal atrophy, Incomplete partition of the cochlea, Hearing i... OMIM:303110
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Spasticity, Impulsivity, Gait ataxia, Rigidity, Dystonia, Dysphagia, Clumsiness OMIM:620448
Autism, Susceptibility To, 3
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Impair... OMIM:608049
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Babinski sign, Irritability, Inability to walk, Hyperactivity, Spasticity, Ankl... OMIM:616657
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasti... OMIM:617672
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Depression, Gliosis, Tremor, Gait disturbance, Short stature, Macrotia, U... ORPHA:457240
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Lower limb spasticity, Hyperactivity, Chorea, Low-set ears, Waddling gait, Impulsivity, Gait atax... OMIM:620445
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Inability to walk, Limb hypertonia, Abnormality of extrapyramidal motor functio... ORPHA:500180
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Retinal degeneration, ... OMIM:618889
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Failure to thrive, Posteriorly rotated ears, ... OMIM:609425
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Usher Syndrome, Type I
Sensorineural hearing impairment, Rod-cone dystrophy, Absent vestibular function OMIM:276900
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Spasticity, Tremor, Abnormal pinna morphology, Cerebral cortical at... OMIM:300983
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Inability to walk, Motor stereotypy OMIM:617830
Striatonigral Degeneration, Infantile
Optic atrophy, Spasticity, Failure to thrive, Dystonia, Dysphagia, Choreoathetosis OMIM:271930
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Motor stereotypy, A... OMIM:619470
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Emotional lability, Chorea, Dysphagia, Gait disturbance OMIM:607674
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Inability to walk, Chorea, Spasticity, Cerebellar atrophy, Compulsive behaviors... OMIM:618917
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Brain atrophy, Dystonia, Ataxia, Parkinsonism, Dysphagia, Abnormal pyramida... OMIM:618317
Deafness, Autosomal Recessive 77
Tinnitus, Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:613079
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Ataxia, EEG abnormality, Pigmentary retinopathy OMIM:610951
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Chorea, Spasticity, Tremor, Poor fine motor coordination, Cerebellar atrophy, B... ORPHA:79263
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Global brain atrophy, Depression, Chorea, Tremor, Cerebellar ... OMIM:619738
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Heari... OMIM:620158
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Huntington Disease-Like 2
Chorea, Gait disturbance, Involuntary movements, Cerebral cortical atrophy, Dystonia, Parkinsonis... ORPHA:98934
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Athetosis, Dystonia, Dysphagia, Paralysis, Amyotrophic lateral sclerosis OMIM:300857
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Ataxia, Generalized dystonia, Retinal pigment epithelial mottling, Optic disc ... OMIM:619389
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Hyperkinetic movements, Chorea, Spasticity, Athetosis, Atrophy/Degeneration aff... OMIM:617493
Friedreich Ataxia
Limb ataxia, Babinski sign, Impaired proprioception, Optic atrophy, Gait imbalance, Inability to ... ORPHA:95
Mepan Syndrome
Optic atrophy, Cerebral atrophy, Axial dystonia, Chorea, Spasticity, Cerebellar atrophy, Craniofa... ORPHA:508093
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Macrotia, Stereotypical hand wringing ORPHA:397933
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Babinski sign, Inappropriate behavior, Aggressive behavior, Apraxia, Abnormal u... OMIM:221770
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Rod-cone dystrophy, Ataxia, Pigmentary retinopathy ORPHA:1178
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, EEG abnormality, Reduced social reciprocity, Motor stereotypy OMIM:617820
Familial Infantile Bilateral Striatal Necrosis
Spastic tetraparesis, Gait ataxia, Rigidity, Ataxia, Dysphagia, Atrophy/Degeneration involving th... ORPHA:225154
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Falls, Depression, Vertigo, Neuronal loss in central nervous system, ... ORPHA:683
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Emotional lability, Chorea, Spasticity, Tremor, Blep... OMIM:606159
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Impaired oral bolus formation, Dysphagia, Myoclonus, Optic disc pallor OMIM:617235
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Paroxysmal dyskinesia, Babinski sign, Optic atrophy, Chorea, Spasticity, Athetosis, Blepharospasm... OMIM:617282
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Elevated plasma citrulline, Hypertaurinemia, Hyperglutamatemi... ORPHA:3008
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Broad-based gait, Microtia, Low-set ears, Polyphagia, Abnormal ear morp... ORPHA:171829
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Hsd10 Disease
Frontotemporal cerebral atrophy, Optic atrophy, Postnatal growth retardation, Tremor, Gait distur... ORPHA:391417
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Depression, Decreased libido, Poly... ORPHA:33543
Spinocerebellar Ataxia Type 1
Bradykinesia, Optic atrophy, Impaired proprioception, Progressive cerebellar ataxia, Abnormal ner... ORPHA:98755
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Spasticity, Pseudobulbar paralysis, Hearing impairment, Aggressiv... ORPHA:208441
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Agitation, Oculogyric crisis, Falls, Abnormalit... ORPHA:13
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 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
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Neuronal loss in central nervous system, Astrocytosis, Gai... OMIM:600795
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced beh... ORPHA:309246
Huntington Disease-Like 3
Abnormal head movements, Progressive gait ataxia, Broad-based gait ORPHA:157946
Huntington Disease
Bradykinesia, Depression, Chorea, Neuronal loss in central nervous system, Gliosis, Cerebellar at... OMIM:143100
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Brain atrophy, Spasticity, Tremor, Low-set ears, Motor stereoty... OMIM:618718
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Oculomotor apraxia, Chorea, Ataxia, Dysphagia, Loss of ambulation, Generalized dyst... OMIM:620427
Frontotemporal Dementia
Irritability, Neuronal loss in central nervous system, Polyphagia, Inappropriate laughter, Disinh... OMIM:600274
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortic... ORPHA:231169
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Cerebellar vermis atrophy, Gliosis, Gait ataxia,... OMIM:213200
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Optic atrophy, Hypertonia, Difficulty walking, Irritability, Bro... ORPHA:79097
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Athetosis, Cerebellar atrophy, Cerebral cortical atrophy, Dystonia, Spastic tetraplegia, ... OMIM:619922
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment OMIM:608224
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Inappropriate behavior, Irritability, Emotional blunting, Restri... ORPHA:275864
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Chorea, Spasticity, A... OMIM:258501
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Progressive extrapyramidal muscular rigidity, Chorea, Abnormal autonomic ner... ORPHA:282166
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Depression, Sensorineural hearing impairment, Spasticity, Tremor, Gliosis... OMIM:300957
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Depression, Spasticity, Gliosis, Impotence, Autonomic erectile dysfunction, Corpus... OMIM:169500
Spermatogenic Failure 17
Male infertility OMIM:617214
Joubert Syndrome 10
Low-set ears, Polyphagia, Frequent temper tantrums, Decreased body weight, Short stature, Conduct... OMIM:300804
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Ravine Syndrome
Anorexia, Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Huntington Disease-Like 2
Bradykinesia, Irritability, Depression, Chorea, Action tremor, Cerebral cortical atrophy, Rigidit... OMIM:606438
Fragile X Syndrome
Hyperactivity, Abnormal head movements, Recurrent hand flapping, Self-biting OMIM:300624
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Attention deficit hype... OMIM:619725
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Chorea, Gliosis, Cerebral cortical atrophy, Dystonia, Opisthotonus, Extrapyramidal... OMIM:277470
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Babinski sign, Hypertonia, Sensorineural hearing impairment, Spasticity, Gliosi... OMIM:619847
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Chorea, Dystonia, Ataxia, Motor stereotypy, Myoclonus,... OMIM:619317
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Hyperkinetic movements, Inability to walk, Bruxism, Stereotypical hand wringing... OMIM:618497
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Spasticity, Dysphagia, Myoclonus OMIM:225753
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Lower limb spasticity, Hyperactivity, Chorea, Depression, Compulsi... ORPHA:485350
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Irritability, Global brain atrophy, Hearing impairment, Failure to thrive, Myoclon... OMIM:609056
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Irritability, Appendicular spasticity, Chorea, Cerebellar vermis atrophy, Cereb... OMIM:613811
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Stereotypical hand wringing, Gait distu... OMIM:614104
Leber Congenital Amaurosis With Early-Onset Deafness
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Peri... OMIM:617879
Dentatorubral-Pallidoluysian Atrophy
Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Cogwheel rigidi... OMIM:616981
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Developmental And Epileptic Encephalopathy 64
Inability to walk, Limb hypertonia, Paroxysmal dystonia, Chorea, Cerebral cortical atrophy, Macro... OMIM:618004
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Spinocerebellar atrophy, Head tremor, Hearing impairment, Cochlear degeneration ORPHA:95433
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Chorea, Tremor, Elevated... ORPHA:94093
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Spasticity, Decreased body ... OMIM:617695
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Bruxism, Tremor, Bilateral sensorineural hearing impairment, Gro... OMIM:619422
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Hippocampal atrophy, Spasticity, Cerebral palsy, Compulsive behaviors, Corpus call... OMIM:301107
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Choreoathetosis, Ataxia OMIM:245348
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Premature ovarian insufficiency, Emotional lability, Secondary amenorrhea, Gliosis... OMIM:603896
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Agitation, Akinesia, Resting tremor, Depression, Gliosis, Parkinsonism with favorab... ORPHA:411602
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidi... OMIM:213600
Leigh Syndrome
Optic atrophy, Emotional lability, Sensorineural hearing impairment, Spasticity, Gliosis, Failure... OMIM:256000
Gordon Holmes Syndrome
Cerebral atrophy, Secondary amenorrhea, Chorea, Cerebellar atrophy, Oligomenorrhea, Ataxia, Prima... OMIM:212840
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Developmental And Epileptic Encephalopathy 110
Chorea, Spasticity, Low-set ears, Macrotia, Pain insensitivity, Bruxism OMIM:620149
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Cerebral atrophy, Hypertonia, Agitation, Cerebellar vermis atrophy, Spasticity, Tre... OMIM:617435
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Lower limb spasticity, Depression, Chorea, Progressive spasticity, Low-set ear... OMIM:300260
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Abnormality of extrapyramidal motor function, Gliosis, Cereb... OMIM:236792
Juvenile Amyotrophic Lateral Sclerosis
Chorea, Cachexia, Head titubation, Ataxia, Opisthotonus, Dysphagia, Amyotrophic lateral sclerosis... ORPHA:300605
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Absent sperm axoneme central pair... OMIM:301101
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Irritability, Inability to walk, Chorea, Facial pa... OMIM:607483
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Tay-Sachs Disease
Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Dysphagia, Myoclonus, C... ORPHA:845
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Babinski sign, Hypertonia, Optic atrophy, Cerebral atrophy, Hyperactivity, Chorea, ... OMIM:610217
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Intention tremor, Cerebral cortical atrophy, Short stature, Ataxia, Abnormal pyramidal si... ORPHA:48431
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Deafness-Hypogonadism Syndrome
Congenital stationary night blindness, Abnormality of the internal auditory canal, Progressive se... ORPHA:90646
Spinocerebellar Ataxia 1
Fasciculations, Chorea, Dysphagia, Impaired vibratory sensation, Optic atrophy, Babinski sign, Im... OMIM:164400
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Head titubation, Ataxia, Dysphagia, Optic atrophy, Writer's cramp, Broad-base... OMIM:312080
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, ... ORPHA:3077
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Familial Cold Urticaria
Polydipsia, Sensorineural hearing impairment, Dysesthesia ORPHA:47045
Obesity Due To Sim1 Deficiency
Polyphagia, Abnormal autonomic nervous system physiology, Obesity, Attention deficit hyperactivit... ORPHA:369873
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity, Brain atrophy, Tetraplegia, Cerebellar atrophy, Corpus callosum atr... ORPHA:369939
Hsd10 Mitochondrial Disease
Optic atrophy, Agitation, Sensorineural hearing impairment, Spasticity, Cerebral cortical atrophy... OMIM:300438
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia OMIM:304800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Hyperactivity, Neuronal loss in central nervous system, Spasticity, Tremor, Dys... OMIM:615924
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Hearing impairment, Waddling gait, Pigmentary retinopathy OMIM:619090
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Impulsivity, Exaggerated startle response, Hypernatremia, Dystonia, Hyp... OMIM:620423
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Sensorineural heari... OMIM:618144
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
X-Linked Creatine Transporter Deficiency
Hypertonia, Aganglionic megacolon, Hyperactivity, Chorea, Cachexia, Athetosis, Short stature, Dys... ORPHA:52503
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involuntary movements, Dyston... OMIM:618218
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Fasciculations, Chorea, Gait at... ORPHA:98756
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Hyperact... OMIM:615673
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13