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 3, transcription factor 4
Synonyms:
Otf9,  BRN-4,  Brn4

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 Pou3f4 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 Pou3f4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pou3f4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment, Hand tremor, Steppage gait OMIM:300905
Autosomal Recessive Spastic Paraplegia Type 24
Sensorineural hearing impairment, Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus ORPHA:101004
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
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
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hyperkalemia, Hand tremor OMIM:609153
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction OMIM:600060
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts
Sensorineural hearing impairment, Lower limb spasticity, Babinski sign, Clonus ORPHA:139444
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Vestibular dysfunction OMIM:600974
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Dysdiadochokinesis, Babinski sign, Spastic paraplegia, Abnormal... ORPHA:101007
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment OMIM:184460
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... ORPHA:1435
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Deafness, Autosomal Dominant 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
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction OMIM:607821
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Tetraplegia ORPHA:3465
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait distu... ORPHA:2815
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Sensorineural hearing impairment, Ataxia, Abnormal pyramidal sign, Profound sensorineural hearing... OMIM:619196
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
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 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, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
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
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, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
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 Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, 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 Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Craniodiaphyseal Dysplasia
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy ORPHA:1513
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231169
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Ataxia, Gait ataxia, Limb ataxia OMIM:117210
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... OMIM:618500
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Ataxia, Spasticity, Abnormal auditory evoked potent... ORPHA:99852
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Hyperkalemia OMIM:170500
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... ORPHA:705
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear OMIM:615706
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Otosclerosis 10
Otosclerosis OMIM:615589
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Head tremor, Spastic dysarthria, Optic atrophy, Difficulty walking... ORPHA:95433
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Clumsiness OMIM:610738
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... ORPHA:2589
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarrhythmia OMIM:617830
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Tremor OMIM:619473
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Falls, Paroxysmal dyskinesi... OMIM:619150
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Myoclonus, Dysdiadochokinesis, Truncal ataxia, Falls, Limb dysm... ORPHA:363710
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Treacher Collins Syndrome 3
Conductive hearing impairment, Abnormality of the outer ear, Microtia OMIM:248390
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Cerebral cortical atrophy, EEG abnormality, Involuntary move... OMIM:617820
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media OMIM:221320
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... OMIM:270500
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Treacher Collins Syndrome 4
Conductive hearing impairment, Preauricular hair displacement OMIM:618939
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Hyperkalemia OMIM:145260
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... ORPHA:52429
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Spastic Paraplegia-Nephritis-Deafness Syndrome
Sensorineural hearing impairment, Paraplegia, Spasticity, Gait disturbance ORPHA:2820
X-Linked Charcot-Marie-Tooth Disease Type 6
Sensorineural hearing impairment, Decreased nerve conduction velocity, Hand tremor, Difficulty wa... ORPHA:352675
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Achondroplasia
Conductive hearing impairment, Recurrent otitis media OMIM:100800
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Low p... OMIM:214300
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor... ORPHA:1368
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... ORPHA:3236
Crouzon Syndrome
Optic atrophy, Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal ORPHA:207
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis, Hypokalemia OMIM:613345
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Waddlin... OMIM:186500
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... ORPHA:100084
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... ORPHA:79113
Otofaciocervical Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Hypertonia, Atresia... ORPHA:2792
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Sensorineural hearing impairment, Ataxia, Babinski sign, Gait disturbance, Spasticity, Waddling g... OMIM:617882
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Inability to walk, Stereotypical hand wringing, Chorea, Dystonia OMIM:618760
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Hypoplasia of the ... OMIM:609136
Ramon Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Generalized hirsutism ORPHA:3019
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Inability to walk, Ankle clonus, Babinski sign, Optic atrophy, ... OMIM:618768
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Sparse eyelashes, Microtia OMIM:300946
Fetal Iodine Syndrome
Sensorineural hearing impairment, Spastic diplegia, Hemiplegia/hemiparesis ORPHA:1910
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... OMIM:601455
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Otofaciocervical Syndrome 1
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea OMIM:166780
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Generalized hypertrichosis ORPHA:1383
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy, Ataxia, Dystonia ORPHA:1171
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, EEG abnormality, Brain atrophy, Tremor, Spasticity, Low-set ... OMIM:618718
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... OMIM:619092
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Thick eyebrow, Synophrys, Low-set ears, Highly arched eyebrow OMIM:614701
Episodic Ataxia Type 4
Ataxia, Frequent falls, Vertigo, Abnormal head movements, Incoordination ORPHA:79136
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
17Q24.2 Microdeletion Syndrome
Otosclerosis, Thick eyebrow, Microtia, Synophrys, Recurrent otitis media, Progressive conductive ... ORPHA:529962
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Sensorineural hearing impairment, Ataxia, Spasticity, Myoclonus OMIM:545000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Low-set ears OMIM:616910
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, EEG abnormality, Hyperkinetic movements, Choreoathet... OMIM:618218
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Difficulty walking, Cerebral atrophy, Spasticity OMIM:617393
Merrf
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:551
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality, Hyperprolinemia OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Pseudohypoaldosteronism Type 2
Periodic paralysis, Hyperkalemia ORPHA:757
Myopathy, Congenital, Bailey-Bloch
Conductive hearing impairment, Low-set ears OMIM:255995
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Protruding ear, Sparse hair OMIM:602249
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Cerebral atrophy, EEG with focal epileptiform discharges, Chorea, EEG with gene... ORPHA:88616
Abruzzo-Erickson Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Macrotia ORPHA:921
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Hemifacial Microsomia With Radial Defects
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:141400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequ... ORPHA:2590
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Sensorineural hearing impairment, Progressive cerebellar ataxia, Babinski sign, Abnormal pyramida... ORPHA:352641
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment OMIM:133705
Deafness, Autosomal Dominant 41
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment OMIM:608224
Malignant Hyperthermia, Susceptibility To, 3
Hypertonia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy ORPHA:791
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... ORPHA:99027
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis OMIM:619470
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia ORPHA:2213
Alopecia Antibody Deficiency
Conductive hearing impairment, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:1006
Schinzel-Giedion Syndrome
Large earlobe, Hypertonia, Wide anterior fontanel, Abnormal helix morphology, Infantile sensorine... ORPHA:798
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment ORPHA:3145
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Distichiasis, Abnormal hair quantity ORPHA:1997
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Tongue fasciculations, Abnormal cranial ... OMIM:601596
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Low-set ears, Low... OMIM:618672
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Morphological abn... ORPHA:87
Spastic Paraplegia 44, Autosomal Recessive
Sensorineural hearing impairment, Upper limb spasticity, Dysmetria, Intention tremor, Babinski si... OMIM:613206
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... OMIM:617695
Zechi-Ceide Syndrome
Conductive hearing impairment, Thick hair, Abnormal helix morphology, Microtia, Stenosis of the e... ORPHA:217017
Leukoencephalopathy, Cystic, Without Megalencephaly
Sensorineural hearing impairment, Ataxia, Athetosis, Spasticity, Dystonia OMIM:612951
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Ataxia ORPHA:1861
Malignant Hyperthermia, Susceptibility To, 1
Rigidity, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Hypsarrhythmia, Macrotia, Hearing impairment OMIM:619877
Larsen-Like Syndrome
Conductive hearing impairment, Low-set ears, Wide anterior fontanel, Recurrent otitis media OMIM:608545
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia OMIM:251800
Charcot-Marie-Tooth Disease, Type 4K
Sensorineural hearing impairment, Ataxia, Difficulty walking, Hearing impairment, Dystonia OMIM:616684
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, L... ORPHA:794
Birk-Landau-Perez Syndrome
Limb ataxia, Limb hypertonia, Hyperkalemia, Optic atrophy, Difficulty walking, Choreoathetosis, I... OMIM:617595
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... OMIM:612290
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, I... ORPHA:101085
Coffin-Siris Syndrome 6
Motor stereotypy, Conductive hearing impairment, Tics, Low-set, posteriorly rotated ears OMIM:617808
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, EEG abnormality, Hoffmann sign... ORPHA:206448
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment, White forelock, Premature graying of hair OMIM:600193
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... OMIM:201050
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Abnormality of extrapyramidal motor function, Chorea, Progressive extrapyramidal movement... ORPHA:382
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Charcot-Marie-Tooth Disease Type 4D
Sensorineural hearing impairment, Inability to walk, Decreased motor nerve conduction velocity, D... ORPHA:99950
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:3082
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Snijders Blok-Campeau Syndrome
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait, Low-set ears OMIM:618205
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Huntington Disease-Like 3
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... ORPHA:157946
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Inability to walk, Bilateral conductive hearing impairment, Long eyelashes, Low... OMIM:617802
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Cerebral atrophy, Stereotypical hand wringing, Chorea, Gait ... OMIM:618917
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cerebral cortical atrophy, EEG... ORPHA:157941
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... OMIM:600795
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear, Supernumerary nipple, Microtia, Cup... ORPHA:246
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Synophrys, Macrotia OMIM:615541
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Atresia of the external auditory canal, Bilateral conductive hearing impairment ORPHA:2010
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Low anterior hairline, Thick eyebrow, Inabi... ORPHA:411986
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Motor stereotypy, Conductive hearing impairment, ... ORPHA:580
Klippel-Feil Syndrome 1, Autosomal Dominant
Sensorineural hearing impairment, Conductive hearing impairment, Mixed hearing impairment, Hearin... OMIM:118100
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... OMIM:609166
Non-Functioning Paraganglioma
Conductive hearing impairment, Pulsatile tinnitus, Cranial nerve compression, Paroxysmal vertigo,... ORPHA:94080
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Microtia, Stenosis of the external auditory canal,... OMIM:616367
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Arm dystonia, Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, ... OMIM:601338
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Low-set ears, Posteriorly rotated ears OMIM:277170
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Sensorineural hearing impairment, Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Decreased mo... OMIM:302800
Hyperkalemic Periodic Paralysis
Hypertonia, Hypokalemia, Cerebral palsy, Elevated circulating creatine kinase concentration, Hypo... ORPHA:682
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Gorham-Stout Disease
Torticollis, Hearing impairment, Abnormality of the internal auditory canal ORPHA:73
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, EEG abnormality, Hand apraxia, Pill-rolling tremor, Stereo... ORPHA:3095
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, ... OMIM:619317
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Cerebral atrophy, Spasticity, Hypsarrhythmia ORPHA:500545
Frontonasal Dysplasia 1
Conductive hearing impairment, Low-set ears, Widow's peak OMIM:136760
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor, Premature graying of hair ORPHA:66633
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Cerebral cortical atrophy, Babinski sign, Spastic dysarthria, Difficulty walkin... ORPHA:280763
Tenosynovial Giant Cell Tumor
Abnormality of the tympanic membrane, Conductive hearing impairment, Abnormality of the auditory ... ORPHA:66627
Radio-Tartaglia Syndrome
Large earlobe, Low-set ears, Conductive hearing impairment, Ataxia, Motor stereotypy, Thick eyebr... OMIM:619312
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Leukonychia, Mixed hearing impairment ORPHA:2698
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Sparse hair, Absent eyebrow, Microtia, Alopecia, A... ORPHA:2316
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Sparse hair, Absent eyebrow, Microtia, Alopecia, A... OMIM:147770
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Alopecia OMIM:135100
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Distal Monosomy 10Q
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... ORPHA:96148
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Brachycephaly, Trichomegaly, And Developmental Delay
Conductive hearing impairment, Thick eyebrow, Brittle hair, Overfolded helix, Long eyelashes, Syn... OMIM:617412
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... OMIM:617807
Folinic Acid-Responsive Seizures
Sensorineural hearing impairment, Hypertonia, Ataxia, Broad-based gait, Chorea, Optic atrophy, Di... ORPHA:79097
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Progressive cerebellar ataxia, Dysmetria, Vestibular areflexia,... ORPHA:504476
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Conductive hearing impairment ORPHA:93262
Hypertelorism, Microtia, Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:239800
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Kbg Syndrome
EEG abnormality, Thick eyebrow, Abnormal hair pattern, Bilateral conductive hearing impairment, S... ORPHA:2332
Peroxisome Biogenesis Disorder 5B
Sensorineural hearing impairment, Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia OMIM:614867
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Macrotia, Anteverte... ORPHA:544254
Oculocerebrodental Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hearing impairment, Abnormality ... ORPHA:557003
Burn-Mckeown Syndrome
Conductive hearing impairment, Hearing impairment, Protruding ear OMIM:608572
Cooper-Jabs Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Abnormality of the middle ... ORPHA:1488
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hypertonia, Ataxia, Hyperkalemia, Spasticity OMIM:608885
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Xq28 (MECP2) duplication
Motor stereotypy, Inability to walk, Progressive spasticity, Gait ataxia, Macrotia DECIPHER:45
Christianson Syndrome
Motor stereotypy, Thick eyebrow, Truncal ataxia, Gait ataxia, Macrotia, Dystonia ORPHA:85278
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment ORPHA:3238
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Thick eyebrow, Recurrent hand flapping, Sparse eyebrow, Macrotia OMIM:617268
Mucopolysaccharidosis Type 2, Severe Form
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Papilledema, Optic... ORPHA:217085
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... ORPHA:261197
Mucopolysaccharidosis Type 2, Attenuated Form
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Papilledema, Optic... ORPHA:217093
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Myoclonus, Nonprogressive cerebellar ataxia, Slurred speech ORPHA:3327
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Abnormal pinna morphology, Ataxia, Stereotypical hand wringing, Gait disturbanc... OMIM:614104
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... OMIM:610706
Fragile X Syndrome
Recurrent hand flapping, Abnormal head movements, Macrotia OMIM:300624
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Frontotemporal cerebral atrophy, Gait disturbance, EEG with continuous slow act... ORPHA:275864
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Optic disc drusen, Hyperthreoninemia, Eye poking OMIM:204000
East Syndrome
Sensorineural hearing impairment, Ataxia, Action tremor, Hypomagnesemia, Hypokalemia, Inability t... ORPHA:199343
Smith-Magenis Syndrome
Motor stereotypy, EEG abnormality, Synophrys, Morphological abnormality of the middle ear, Abnorm... OMIM:182290
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Tremor, Low-set ears, Highly ... OMIM:618342
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment OMIM:601076
X-Linked Mandibulofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Aplasia/Hypoplas... ORPHA:1131
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Sensorineural hearing impairment, Ataxia, Spastic paraplegia OMIM:619688
4Q21 Microdeletion Syndrome
Motor stereotypy, Low-set ears, Generalized hirsutism, Tremor, Long eyelashes, Synophrys, Hearing... ORPHA:238750
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... ORPHA:247815
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Hypokalemia OMIM:170400
Paragangliomas 1
Conductive hearing impairment, Pulsatile tinnitus, Vocal cord paralysis OMIM:168000
Noonan Syndrome
Sensorineural hearing impairment, Aplasia of the semicircular canal, Abnormal hair quantity, Coar... ORPHA:648
Microcephaly 3, Primary, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment OMIM:604804
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Broad-based gait, Coarse hair, Synophrys, Hearing impairment, Curly hair OMIM:616351
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Hypokalemia OMIM:613239
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Conductive hearing impairment, Protruding ear, Thick eyebrow, Low-set, posteri... ORPHA:502
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior, Low-set... ORPHA:352490
Lateral Meningocele Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2789
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:619690
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Macrotia, Upper limb spasticity ORPHA:457240
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping OMIM:620021
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Low-set ears, Posteriorly rotated ears, Synophrys OMIM:617877
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Piebald Trait-Neurologic Defects Syndrome
Sensorineural hearing impairment, Abnormal eyebrow morphology, Ataxia, Hypopigmentation of hair, ... ORPHA:2885
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Tetraparesis, Optic disc pallor, Synophrys, Abnormal au... OMIM:619260
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Hypernatremia, Hypoalbuminemia, Abn... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Hypernatremia, Hypoalbuminemia, Abn... ORPHA:529808
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:608257
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Atresia of the external auditory canal, Conductive hearing impairment OMIM:602471
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Conductive hearing impairment, Microtia, Stenosis of the external auditory canal, Abnormal antitr... ORPHA:2878
Rett Syndrome
Motor stereotypy, Inability to walk, Bradykinesia, EEG abnormality, Abnormal autonomic nervous sy... ORPHA:778
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears, Abnormal cranial nerve morp... ORPHA:990
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Myoclonus, Hyperkinetic movements, Stereotypical hand wringi... ORPHA:561854
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia OMIM:245348
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Dysmetria, Intenti... OMIM:612674
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
X-Linked Charcot-Marie-Tooth Disease Type 2
Sensorineural hearing impairment, Optic neuropathy, Hand tremor, Spastic paraparesis, Clasp-knife... ORPHA:101076
Rhyns Syndrome
Conductive hearing impairment OMIM:602152
Phaver Syndrome
Conductive hearing impairment, Overfolded helix, Low-set ears, Posteriorly rotated ears, Aplasia/... ORPHA:2876
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sensorineural hearing impairment, Sparse eyebrow, Microtia, Stenosis of the external auditory can... OMIM:606164
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:1307
Microcephaly-Deafness-Intellectual Disability Syndrome
Sensorineural hearing impairment, Low-set ears, Protruding ear, Cupped ear ORPHA:2533
Waardenburg Syndrome, Type 4A
Sensorineural hearing impairment, Ataxia, Spastic paraparesis, White eyebrow, White eyelashes, Wh... OMIM:277580
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Ataxia, Slurred speech, Myoclonus OMIM:274240
Cleft Lip/Palate
Conductive hearing impairment, Recurrent otitis media ORPHA:199306
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Multifocal epileptiform discha... ORPHA:505652
Craniosynostosis And Dental Anomalies
Conductive hearing impairment, Stapes ankylosis, Papilledema, Absent malleus, Chronic otitis media OMIM:614188
Madras Motor Neuron Disease
Sensorineural hearing impairment, Babinski sign, Limb fasciculations, Optic atrophy, Tinnitus, Fa... ORPHA:137867
Acrootoocular Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Pseudopapilledema, Atresia of th... ORPHA:2980
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Agnathia-Otocephaly Complex
Conductive hearing impairment, Low-set ears, Synotia OMIM:202650
Lateral Meningocele Syndrome
Conductive hearing impairment, Abnormality of the middle ear ossicles, Coarse hair, Low-set ears,... OMIM:130720
Waardenburg Syndrome Type 2
Sensorineural hearing impairment, Premature graying of hair, Hypopigmentation of hair, White fore... ORPHA:895
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Respiratory paralysis, Periodic hypokalemic paresis, Paralysis, Mildly elev... ORPHA:681
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Supernumerary nipple, Patchy alopecia, Sparse eyelashes, Sparse bo... OMIM:106260
Isolated Cleft Lip
Abnormal Eustachian tube morphology, Conductive hearing impairment, Chronic otitis media ORPHA:199302
Smith-Magenis Syndrome
Motor stereotypy, Conductive hearing impairment, EEG abnormality, Chronic otitis media, Gait dist... ORPHA:819
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Generalized hirsutism, External ... ORPHA:254346
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Broad-based gait, Low anterior h... OMIM:601808
Waardenburg Syndrome
Conductive hearing impairment, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmen... ORPHA:3440
Ogden Syndrome
Torticollis, Hypertonia, Aplasia/Hypoplasia of the eyebrow, Shuffling gait, Fine hair, Abnormal h... ORPHA:276432
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Crandall Syndrome
Sensorineural hearing impairment, Pili torti, Brittle hair, Alopecia, Sparse body hair, Aplasia/H... ORPHA:202
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Marshall-Smith Syndrome
Optic atrophy, Conductive hearing impairment, Generalized hirsutism ORPHA:561
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Facial palsy OMIM:123000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Pulsatile tinnitus, Cranial nerve compression, Paroxysmal vertigo,... ORPHA:276621
Hydroxykynureninuria
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment, Abnormal circulating t... ORPHA:79155
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Microtia, Overfolded helix, Atresia of the external auditory canal... OMIM:610536
Kniest Dysplasia
Gait disturbance, Conductive hearing impairment, Recurrent otitis media OMIM:156550
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Inability to wal... ORPHA:168491
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia OMIM:613670
Usher Syndrome Type 2
Sensorineural hearing impairment, Ataxia, Abnormality of the inner ear ORPHA:231178
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Macrotia OMIM:618504
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment, Ataxia OMIM:620012
Intellectual Developmental Disorder, Autosomal Dominant 48
Sensorineural hearing impairment, Motor stereotypy, Synophrys, Recurrent otitis media, Low-set ea... OMIM:617751
Distal Monosomy 19P13.3
Sensorineural hearing impairment, Conductive hearing impairment, Thick eyebrow, Alopecia, Low-set... ORPHA:96129
Mucopolysaccharidosis Type 3
Ataxia, Otitis media, Coarse hair, Optic atrophy, Spasticity, Hypertonia, Loss of ambulation, Mix... ORPHA:581
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... ORPHA:500159
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Microtia, Atresia of the external auditory canal, He... OMIM:613309
Crouzon Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Optic atrophy OMIM:123500
Dystonia, Juvenile-Onset
Sensorineural hearing impairment, Leg dystonia, Loss of ambulation, Pseudobulbar paralysis, Oculo... OMIM:607371
2Q37 Microdeletion Syndrome
Motor stereotypy, Conductive hearing impairment, Sparse scalp hair, Supernumerary nipple, Sparse ... ORPHA:1001
Down Syndrome
Conductive hearing impairment, Sparse hair, Round ear, Gait disturbance, Aganglionic megacolon ORPHA:870
Coffin-Siris Syndrome 7
Motor stereotypy, Low-set ears, Recurrent otitis media, Sparse scalp hair, Thick eyebrow, Macroti... OMIM:618027
Tay-Sachs Disease
Inability to walk, Laryngeal dystonia, Optic atrophy, Tremor, Exaggerated startle response, Dysme... ORPHA:845
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Conductive hearing impairment, Wide anterior fontanel, Microtia... OMIM:615546
Immunodeficiency 23
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Cortical myoclonus, Myoc... OMIM:615816
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Motor stereotypy, Inability to walk, Cerebral cortical atrophy,... ORPHA:457351
Björnstad Syndrome
Sensorineural hearing impairment, Brittle hair, Alopecia ORPHA:123
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears, Prem... ORPHA:1297
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Cerebral atrophy, Abnormal pyramidal sign, Neurodegener... OMIM:272750
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... ORPHA:206436
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Wide anterior fontanel, Microtia... OMIM:601390
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonus, Limb hyperton... OMIM:619580
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Hearing impairment OMIM:616229
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Ankle clonus, Babinski sign, Spastic paraplegia,... OMIM:609541
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Tremor, Difficulty walking, Gait dist... ORPHA:90321
Kapur-Toriello Syndrome
Conductive hearing impairment, Low-set ears, Low posterior hairline OMIM:244300
Heimler Syndrome 2
Sensorineural hearing impairment, Beau's lines, Leukonychia OMIM:616617
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Stenosis of the external auditory canal, Conductive hearing impairment, Microtia OMIM:171480
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia OMIM:616042
Beckwith-Wiedemann Syndrome
Posterior helix pit, Wide anterior fontanel, Otosclerosis, Anterior creases of earlobe, Abnormal ... ORPHA:116
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Congenital Disorder Of Glycosylation, Type Iit
Conductive hearing impairment, Low-set, posteriorly rotated ears OMIM:618885
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Stickler Syndrome, Type I
Sensorineural hearing impairment, Conductive hearing impairment OMIM:108300
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Cerebral atrophy,... ORPHA:79264
Robinow Syndrome, Autosomal Dominant 2
Sensorineural hearing impairment, Hearing impairment, Mixed hearing impairment, Conductive hearin... OMIM:616331
Chanarin-Dorfman Syndrome
Sensorineural hearing impairment, Ataxia, Alopecia, Microtia OMIM:275630
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Mixed hearing impairment, Chronic otitis media OMIM:613627
Liddle Syndrome 3
Hypokalemia OMIM:618126
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cerebral atrophy, Abnormal pyramidal sign, Neurodegeneration, Progr... ORPHA:309246
Brittle Cornea Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of hair pigmentation... ORPHA:90354
Oculodentodigital Dysplasia
Paraparesis, Conductive hearing impairment, Abnormal pinna morphology, Ataxia, Sparse hair, Dry h... OMIM:164200
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Sensorineural hearing impairment, Ataxia, Hypomagnesemia, Hypokalemia, Intention tremor, Dysdiado... OMIM:612780
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Mixed hearing impairment, Facial palsy OMIM:218400
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Overfolded helix, Mixed hearing impairment, Broad lateral eyebrow, Long eyelashes, Low-set ears, ... OMIM:608624
Giant Cell Arteritis
Conductive hearing impairment, Ataxia, Alopecia, Optic atrophy, Vertigo, Hearing impairment ORPHA:397
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome