Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
POU domain, class 4, transcription factor 3
Synonyms:
Brn-3.1,  Brn3.1,  Brn3c

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Pou4f3 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 Pou4f3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459

The table below shows human diseases predicted to be associated to Pou4f3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Deafness, Autosomal Recessive 2
Vertigo, Sensorineural hearing impairment, Vestibular dysfunction OMIM:600060
Deafness, Autosomal Dominant 11
Vertigo, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:601317
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
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, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:607821
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Increased in... OMIM:612290
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Usher Syndrome, Type If
Congenital sensorineural hearing impairment OMIM:602083
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Intellectual Developmental Disorder, Autosomal Recessive 67
Sensorineural hearing impairment OMIM:618295
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
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 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Mental Retardation, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Low-frequency hearing loss, Sensorineural hearing impairment, Progressive hearing impairment OMIM:124900
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Ravine Syndrome
Ataxia, Decreased body weight, Abnormal auditory evoked potentials, Failure to thrive, Atrophy/De... ORPHA:99852
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy, Stenosis of the external auditory canal ORPHA:1513
Myxopapillary Ependymoma
Unsteady gait, Abnormality of the auditory canal, Autonomic bladder dysfunction ORPHA:251643
Split-Foot Malformation With Mesoaxial Polydactyly
Sensorineural hearing impairment OMIM:616890
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Caribbean Parkinsonism
Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxi... ORPHA:97355
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Dis... OMIM:601382
Mohr-Tranebjaerg Syndrome
Dystonia, Global brain atrophy, Sensorineural hearing impairment, Generalized dystonia, Abnormali... ORPHA:52368
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Hearing impairment, Sensorineural hearing impairment OMIM:310490
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia OMIM:172500
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Facial palsy, Sensorineural hearing impairment, Abnorma... ORPHA:100084
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Spastic diplegia, Stereotypy, Optic atrophy OMIM:617830
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... OMIM:609166
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ataxia, ... ORPHA:97229
Craniometaphyseal Dysplasia, Autosomal Dominant
Facial palsy, Mixed hearing impairment OMIM:123000
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Abnormal aut... OMIM:300894
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Cerebral atrophy, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Abnorm... ORPHA:320401
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Weight loss, Parkinsonism, Involuntary movements ORPHA:98934
Parkinsonism-Dystonia, Infantile, 2
Temperature instability, Tremor, Gait ataxia, Incoordination, Dystonia, Abnormal autonomic nervou... OMIM:618049
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... OMIM:617862
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Craniometaphyseal Dysplasia
Conductive hearing impairment, Abnormal cranial nerve morphology, Sensorineural hearing impairmen... ORPHA:1522
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonom... ORPHA:139578
Craniometaphyseal Dysplasia, Autosomal Recessive
Facial palsy, Mixed hearing impairment, Optic atrophy OMIM:218400
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Bradykinesia... ORPHA:329284
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Mixed hearin... OMIM:118100
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Conductive hearing impairment OMIM:303110
N-Acetylaspartate Deficiency
Decreased body weight, Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking ORPHA:100973
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Difficulty walking, Progressive cerebellar ataxia, Hearing im... ORPHA:95433
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:102
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Posteriorly rotated ears, Sensorineural hearing impairment, Mixed hearing impairment, Microtia OMIM:606164
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Progressive hearing impairment, Bilateral sensorineural hearing impairment OMIM:124950
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Small for gestational age, Stereot... OMIM:609425
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Stenosis of the external au... OMIM:113650
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Stereotypy, Macrotia OMIM:615541
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231169
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media OMIM:221320
Mitchell Syndrome
Difficulty walking, Clumsiness, Abnormal autonomic nervous system physiology OMIM:618960
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Distal sensory impairm... OMIM:601455
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... OMIM:615924
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Axial dystonia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:98933
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Cerebral cortical atrophy, Hyperactivity, Optic atrophy... OMIM:300983
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:227510
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Sen... ORPHA:99027
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system p... OMIM:105210
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Stenosis of the external auditory canal, Question mark ear OMIM:615706
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Merrf
Optic atrophy, Sensorineural hearing impairment ORPHA:551
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Failure to thrive, Stereotypy, Spasticity OMIM:617393
Leukodystrophy, Hypomyelinating, 12
Temperature instability, Abnormal autonomic nervous system physiology, Hearing impairment, Optic ... OMIM:616683
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Brain atrophy, Low-set ears, EEG abnormality, Stereotypy, Hyperactivit... OMIM:618718
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Abnormal cranial nerve morphology, Gait ataxia, Akinesia, Abnormal vestibulo-... ORPHA:247234
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Chronic otitis media, Mixed hearing impairment OMIM:613627
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Sensorineural hearing impairment OMIM:609283
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Abnormality of the outer ear OMIM:248390
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Sensorineural hearing impairment OMIM:603641
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Sensorineural hearing impairment OMIM:613287
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Sensorineural hearing impa... OMIM:618500
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Low-set ears, Mixed hearing impairment, Microtia, Overfolded helix OMIM:608624
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:598500
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Gait ataxia, Limb ataxia, Abnormal autonomic nervous system physiology, Ataxia OMIM:614575
Autism
EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Stereotypy OMIM:300495
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Myoclonic spasms, Abnormal autonomic nervous system physiology, Babinski sign, Clonus... OMIM:614498
Aminoacylase 1 Deficiency
Hyperactivity, Cerebellar atrophy, Sensorineural hearing impairment, Cerebral atrophy OMIM:609924
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG with focal epileptifo... ORPHA:88616
Liberfarb Syndrome
Sensorineural hearing impairment, Optic disc pallor OMIM:618889
Spinocerebellar Ataxia Type 3
Dystonia, Clumsiness, Vestibular dysfunction, Abnormality of extrapyramidal motor function, Abnor... ORPHA:98757
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Abnormal autonomic nervous system physiology DECIPHER:59
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Infantile Neuroaxonal Dystrophy
Temperature instability, Dystonia, Gait disturbance, Abnormal pyramidal sign, Spastic tetraparesi... ORPHA:35069
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Optic disc pallor ORPHA:309288
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor coordination, Spasticity, Atax... OMIM:617695
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Mixed hearing impairment OMIM:603463
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia, ... ORPHA:248111
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Decreased nerve c... ORPHA:1368
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Vestibular dysfunction, Optic disc pallor OMIM:618632
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment ORPHA:1490
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... ORPHA:369873
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Hypertonia, Ataxia, Brain atro... OMIM:619092
Hyperprolinemia, Type I
Stereotypy, EEG abnormality, Ataxia, Hyperactivity OMIM:239500
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Ataxia, Hearing impairment, Cachexia OMIM:613662
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Posteriorly rotated ears, Cupped ear, Aganglionic megacolon, Abnormal autonomic nervous system ph... OMIM:613870
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment ORPHA:1383
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Abnormal autonomic nervous system phys... OMIM:609136
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Microcephaly 3, Primary, Autosomal Recessive
Sensorineural hearing impairment OMIM:604804
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Sensorineural hearing impairment ORPHA:1171
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, EEG abnormality, Stere... OMIM:619150
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, EEG abnormality, Stereotypy, Involun... OMIM:618218
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment OMIM:268010
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Hearing impairment, Optic atrophy, Sensorineural hearing impairment OMIM:311070
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Prolonged brainstem auditory evoked potentials, Clumsiness, Impaired t... ORPHA:206448
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Weight loss, Rigidity OMIM:606438
Tetanus
Tremor, Autonomic bladder dysfunction, Hypertonia, Abnormal autonomic nervous system physiology, ... ORPHA:3299
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Oromotor apraxia, Abnormal autonomic nervous system physiology, Sensorineural hearing impairment,... ORPHA:466934
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Machado-Joseph Disease
Dystonia, Truncal ataxia, Abnormality of extrapyramidal motor function, Limb ataxia, Abnormal aut... OMIM:109150
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Hyperostosis Corticalis Generalisata
Facial palsy, Sensorineural hearing impairment ORPHA:3416
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment OMIM:613076
Combined Oxidative Phosphorylation Deficiency 36
Sensorineural hearing impairment OMIM:617950
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Positive Romberg sign, Impaired pain sensation, Gait ataxia, Impaired vibrator... ORPHA:101085
Retinitis Pigmentosa
Conductive hearing impairment, Optic atrophy, Sensorineural hearing impairment ORPHA:791
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the pinna OMIM:214300
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus, Hypothermia, Abnormal autonomic nervous system physiology ORPHA:168593
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment OMIM:215150
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Cln5 Disease
Dysdiadochokinesis, Atrophy/Degeneration affecting the central nervous system, Tremor, Abnormal c... ORPHA:228360
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Cupped ear, Mixed hearing impairment OMIM:615560
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Abnormal pyramidal sign, Hearing impairment, Recurrent fever, Tetraplegia, Optic a... ORPHA:369939
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Myoclonus, Fever, Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Fever OMIM:141500
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment OMIM:600193
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Macrotia, Cerebral cortical atrophy, Cerebellar atrophy, C... ORPHA:85278
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Cerebral atrophy, Hypsarrhythmia, Spasticity ORPHA:500545
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Hyperactivity OMIM:613402
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Achondroplasia
Conductive hearing impairment, Recurrent otitis media OMIM:100800
Peroxisome Biogenesis Disorder 7B
Sensorineural hearing impairment OMIM:614873
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Gait disturbance, Poor fine motor coordination, ... ORPHA:157941
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Babinski sign, Stereotypy, Rigi... OMIM:600795
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Sensorineural hearing impairment, Aganglionic megacolon ORPHA:2155
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, EEG abnormality, Stereotypical hand wringing OMIM:618760
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Hyperactivity, Tetraplegia, Optic atrophy OMIM:274270
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy, Macrotia OMIM:618504
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Gait disturbance, Abnormality of the pinna, Failure ... OMIM:614104
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:3019
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ata... OMIM:618598
Fatal Familial Insomnia
Myoclonus, Fever, Abnormal autonomic nervous system physiology, Ataxia OMIM:600072
Tick-Borne Encephalitis
Tremor, Abnormal cranial nerve morphology, Vertigo, Incoordination, Speech apraxia, Hyperkinetic ... ORPHA:297
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Microtia OMIM:251800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Alacrima, Achalasia, And Mental Retardation Syndrome
Gait disturbance, Hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic h... OMIM:615510
Migraine, Familial Hemiplegic, 2
Hemiplegia, Episodic ataxia, Vertigo, Apraxia, Hemiparesis, Fever OMIM:602481
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Resting tremor, ... OMIM:616840
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Vestibular dysfunction OMIM:276902
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Macrotia, Ataxia, Failure to thrive, Stereotypy, Hyperactivity, Spasticity OMIM:300912
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Spastic ataxia, Spastic diplegia, Abnormal autonomic nervous system ... ORPHA:300570
Episodic Ataxia Type 4
Vertigo, Incoordination, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Dystonia, Clumsiness, Autonomic bladder dysfunction, Intention tremor, Ataxia, D... ORPHA:447896
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Huntington Disease
Inability to walk, Dystonia, Decreased body mass index, Clumsiness, Difficulty walking, Chorea, G... ORPHA:399
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Difficulty walking, Waddling gait, Stereotypy, Babinski sign, Progressive s... ORPHA:280763
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Lowe-Kohn-Cohen Syndrome
Sensorineural hearing impairment ORPHA:2408
Spinocerebellar Ataxia Type 36
Vertigo, Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculati... ORPHA:276198
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Abnormality of the pinna, Unsteady gait, Stereotypy, O... OMIM:617807
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Cerebellar atrophy, Stereotyp... OMIM:618917
Parkinsonian-Pyramidal Syndrome
Dystonia, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Bradykinesia, Pa... ORPHA:171695
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Posteriorly rotated ears, Lo... OMIM:209880
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:2213
Immunodeficiency 8
Hyperactivity OMIM:615401
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:141400
Mental Retardation With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Stereotypy, Attention deficit hyperactivity disorde... OMIM:613670
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Anteverted ears, Macrotia, Gait disturbance, Poor coordination, Ataxia, Abnormality of pa... ORPHA:544254
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Abnormal autonom... ORPHA:778
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Conductive hearing impairment OMIM:616910
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Frequent falls, Gait disturbance, Toe walking, Weight loss, Opisthotonus, Gene... ORPHA:216866
Mental Retardation, Autosomal Recessive 61
Low-set ears, Posteriorly rotated ears, EEG abnormality, Babinski sign, Hyperactivity, Spasticity OMIM:617773
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Stereotypy, Failure to thrive, Progressive spasticity DECIPHER:45
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Low-set ears, Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment OMIM:618672
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Deafness, Autosomal Recessive 108
Congenital sensorineural hearing impairment OMIM:617654
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Low-set ears, Small for gestational age, Stereotypy, Hyperactivity, Repetitive compul... ORPHA:352490
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, EEG with continuous slow activity... ORPHA:275864
Parkinson Disease, Late-Onset
Tremor, Dystonia, Abnormal autonomic nervous system physiology, Resting tremor, Bradykinesia, Par... OMIM:168600
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Narrow internal auditory canal, Holoprosencephaly, Low-set, po... ORPHA:990
Crouzon Disease
Narrow internal auditory canal, Conductive hearing impairment, Hearing impairment, Optic atrophy,... ORPHA:207
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia ORPHA:921
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... OMIM:611584
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Stereotypy, Spasticity OMIM:612069
Haddad Syndrome
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... ORPHA:99803
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Otofaciocervical Syndrome
Abnormality of the antihelix, Macrotia, Conductive hearing impairment, Atresia of the external au... ORPHA:2792
Pulmonary Blastoma
Weight loss ORPHA:64741
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Neurod... OMIM:615491
Developmental And Epileptic Encephalopathy 30
Stereotypy, Hypsarrhythmia OMIM:616341
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Snijders Blok-Campeau Syndrome
Speech apraxia, Low-set ears, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Occipital cortical atrophy, Hypsarrhythmia, Multifocal epileptiform discharges... ORPHA:411986
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Mixed hearing impairment OMIM:201180
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
High-frequency hearing impairment, Tinnitus, Bilateral sensorineural hearing impairment OMIM:605594
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the outer ear, Hearing impairment, EE... OMIM:182290
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder d... OMIM:169500
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Decreased body weight, M... ORPHA:561854
Deafness, Autosomal Recessive 103
Vestibular areflexia, Sensorineural hearing impairment, Vestibular dysfunction OMIM:616042
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Sensorineural hearing impairment, Hyperactivity OMIM:618342
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Coffin-Siris Syndrome 7
Macrotia, Recurrent otitis media, Low-set ears, Posteriorly rotated ears, Hearing impairment, Hyp... OMIM:618027
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Sensorineural hearing impairment, Optic disc pallor OMIM:612989
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormality of the antihelix ORPHA:3145
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Motor Neuropathy, Peripheral, With Dysautonomia
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Decreased nerve conduction... OMIM:252320
Myopathy, Congenital, Bailey-Bloch
Low-set ears, Conductive hearing impairment OMIM:255995
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hydrocephalus OMIM:109120
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Macrotia OMIM:300558
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Chorea, Hyperkinetic moveme... OMIM:619317
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Conductive hearing impairment, Chronic... ORPHA:581
Isaac Syndrome
Fasciculations, Weight loss ORPHA:84142
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, St... ORPHA:457240
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, EEG abnormality, Recurrent hand flapping, Macrotia OMIM:617268
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Tetraparesis, Ataxia, Brain atrophy, Cerebellar atrophy, Abnormal auditory evok... OMIM:619260
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Hearing impairment OMIM:616229
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic nerve hypoplasia ORPHA:79345
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:93262
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Oculopharyngodistal Myopathy
Progressive sensorineural hearing impairment, Vocal cord paresis, Difficulty walking, Loss of abi... ORPHA:98897
Jervell And Lange-Nielsen Syndrome 2
Sensorineural hearing impairment, Congenital sensorineural hearing impairment OMIM:612347
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Ataxia, Sensori... ORPHA:1435
Non-Functioning Paraganglioma
Conductive hearing impairment, Paroxysmal vertigo, Pulsatile tinnitus, Cranial nerve compression ORPHA:94080
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Spastic diplegia, Ankle clonus, Opisthotonus, Hea... ORPHA:206436
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment ORPHA:1144
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Upper limb spasticity, Hypertoni... ORPHA:300605
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Madras Motor Neuron Disease
Facial palsy, Sensorineural hearing impairment, Tinnitus, Optic atrophy ORPHA:137867
Raine Syndrome
Abnormality of the pinna, Low-set ears, Posteriorly rotated ears, Protruding ear, Mixed hearing i... OMIM:259775
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight, Macrotia ORPHA:1672
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Global brain atrophy, EEG with focal epileptiform discharges, He... ORPHA:1929
Otofaciocervical Syndrome 1
Conductive hearing impairment OMIM:166780
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Morphological abnormality of the... ORPHA:87
Tuberculosis
Weight loss ORPHA:3389
Primary Angiitis Of The Central Nervous System
Vertigo, Paraparesis, Tetraparesis, Hemiparesis, Ataxia, Paralysis, Pseudopapilledema, Parkinsoni... ORPHA:140989
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, EEG with spike-wave complexes, EEG with series of focal sp... ORPHA:168491
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Failure to thrive in infancy, Hearing impairment, Cachexia, O... ORPHA:702
Waardenburg Syndrome Type 2
Hearing impairment, Sensorineural hearing impairment, Aganglionic megacolon ORPHA:895
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment, Torticollis ORPHA:73
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology, Fever ORPHA:2483
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Protruding ear OMIM:602249
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Conductive hearing impairment, Sensorineural hearing impairment, Mixed hearing impairment, Overfo... OMIM:300990
Distal Monosomy 10Q
Cochlear malformation, Poor fine motor coordination, Oculomotor apraxia, Abnormality of the outer... ORPHA:96148
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment OMIM:616331
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Abnormality of the outer ear, Low-set ears, Posteriorly rotate... ORPHA:314585
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Gait ataxia, Progressive cerebellar ataxia, Intention tremor, Frequent falls, Optic atrophy, Feve... ORPHA:466794
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Sensorineural hearing impairment, Decreased sensory nerve conduction velocity OMIM:162400
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Machado-Joseph Disease Type 1
Dystonia, Clumsiness, Vestibular dysfunction, Abnormality of extrapyramidal motor function, Progr... ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Clumsiness, Vestibular dysfunction, Abnormality of extrapyramidal motor function, Progr... ORPHA:276241
Dystonia 12
Dystonia, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism, Fever OMIM:128235
Mental Retardation, Autosomal Dominant 48
Low-set ears, Sensorineural hearing impairment, Abnormality of the pinna, Stereotypy OMIM:617751
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Hearing impairment, Broad-based gait, Spasticity ORPHA:457260
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Absent brainstem auditory responses, Spastic tetraplegia, ... ORPHA:3240
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Overweight, Hypoplastic helices, Recurrent otitis media, EEG abnormality, Failu... ORPHA:391372
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Fragile X Syndrome
Hyperactivity, Abnormal head movements, Macrotia OMIM:300624
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617992
Young-Onset Parkinson Disease
Tremor, Dystonia, Abnormal autonomic nervous system physiology, Bradykinesia, Rigidity, Gait imba... ORPHA:2828
Zechi-Ceide Syndrome
Conductive hearing impairment, Low-set ears, Stenosis of the external auditory canal, Abnormality... ORPHA:217017
Waardenburg Syndrome, Type 4B
Sensorineural hearing impairment, Aganglionic megacolon OMIM:613265
Obesity, Hyperphagia, And Developmental Delay
Stereotypy, Obesity OMIM:613886
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:605543
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Shukla-Vernon Syndrome
Cerebellar atrophy, Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
48,Xxyy Syndrome
Infertility, Tremor, Azoospermia, Hypergonadotropic hypogonadism, Chronic otitis media, Ataxia, S... ORPHA:10
Alpha-Mannosidosis, Infantile Form
Sensorineural hearing impairment, Mixed hearing impairment, Otitis media, Optic disc pallor ORPHA:309282
Hyperostosis Cranialis Interna
Vestibular dysfunction, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Tinnitus OMIM:144755
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Vestibular dysfunction, Abnormality of extrapyramidal motor function, Progr... ORPHA:276244
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Interictal EEG abnormality, Poor motor coordination, Poor fine motor coordination, Ce... ORPHA:79264
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Facial palsy, Protruding e... ORPHA:2316
Congenital Disorder Of Glycosylation, Type Ip
Temperature instability, Opisthotonus, Sensorineural hearing impairment OMIM:613661
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment ORPHA:66633
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Cerebral atr... ORPHA:363400
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Cupped ear, Microtia, Abnormali... ORPHA:246
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Facial palsy, Protruding e... OMIM:147770
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Upper limb spasticity, Lower limb spasticity, Sensorineural hearing impairmen... OMIM:609727
Trisomy 20P
Abnormality of the antihelix, Incoordination, Macrotia, Low-set, posteriorly rotated ears, Gait d... ORPHA:261318
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Multiple System Atrophy 1, Susceptibility To
Tremor, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ataxia, Bradykines... OMIM:146500
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Cri-Du-Chat Syndrome
Difficulty walking, Hypertonia, Abnormality of the pinna, Low-set ears, Hearing impairment, Steno... OMIM:123450
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment ORPHA:3238
Coffin-Siris Syndrome 6
Conductive hearing impairment, Low-set, posteriorly rotated ears, Tics, Stereotypy, Attention def... OMIM:617808
Cockayne Syndrome Type 1
Tremor, Male hypogonadism, Macrotia, Difficulty walking, Gait disturbance, Ataxia, Hearing impair... ORPHA:90321
Ck Syndrome
Posteriorly rotated ears, Hyperactivity ORPHA:251383
Optic Atrophy-Intellectual Disability Syndrome
Hearing impairment, Protruding ear, Abnormality of the helix, Optic nerve hypoplasia, Repetitive ... ORPHA:401777
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Falls, Myoclonus, Hyperactivity ORPHA:2382
Pigmented Villonodular Synovitis
Abnormality of the tympanic membrane, Abnormality of the auditory canal, Conductive hearing impai...