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Gene: Pou3f4 MGI:101894

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... 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
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
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
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Deafness, Autosomal Recessive 2
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Autosomal Recessive Spastic Paraplegia Type 24
Sensorineural hearing impairment, Tip-toe gait, Scissor gait ORPHA:101004
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
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
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
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... ORPHA:52368
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... OMIM:300614
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
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
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Bruxism, Choreoathetosis, Dystonia, Conductive hearing impairment, Stereotypic... OMIM:618497
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Dysdiadochokinesis, Abnormality of somatosensory evoked potentials ORPHA:101007
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
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 120
Sensorineural hearing impairment OMIM:620238
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, Impaired Intellectual Development, 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 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, 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 Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231183
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy ORPHA:1513
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231169
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri... OMIM:608636
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Sensorineural hearing impairment, Dystonia, Profound sensorineural hearing impairment, He... OMIM:619196
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, EEG abnormality, Falls, Inappropriate laughter, Br... OMIM:619150
Developmental And Epileptic Encephalopathy 63
Highly arched eyebrow, Inability to walk, EEG with generalized epileptiform discharges, Conductiv... OMIM:617976
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Otosclerosis 10
Otosclerosis OMIM:615589
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Atrophy/Degeneration affecting the brainstem, Hand tremor, ... OMIM:617862
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Oculopharyngodistal Myopathy 3
Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Conductive hearing impairment OMIM:619473
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
7Q31 Microdeletion Syndrome
Hyperactivity, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-... ORPHA:251061
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,... OMIM:618718
Treacher Collins Syndrome 4
Conductive hearing impairment, Preauricular hair displacement OMIM:618939
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive... OMIM:239500
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Head tremor, Difficulty walking, Cochl... ORPHA:95433
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, EEG abnormality, Dystonia, Abnormal repetitive manner... OMIM:617820
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:617830
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Low p... OMIM:214300
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment ORPHA:207
Lichtenstein-Knorr Syndrome
Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis... OMIM:616291
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Sensorineural hearing impairment, Hand tremor, Steppage gait... ORPHA:352675
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Dystonia ORPHA:1171
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... ORPHA:79113
17Q24.2 Microdeletion Syndrome
Otosclerosis, Aggressive behavior, Synophrys, Microtia, Recurrent otitis media, Progressive condu... ORPHA:529962
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Multiple Synostoses Syndrome 1
Waddling gait, Stapes ankylosis, Progressive conductive hearing impairment, Bilateral conductive ... OMIM:186500
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Spinocerebellar Ataxia Type 37
Tremor, Sensorineural hearing impairment, Dysdiadochokinesis, Gait disturbance, Falls, Truncal at... ORPHA:363710
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... OMIM:619470
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Generalized hirsutism ORPHA:3019
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia, Torticollis ORPHA:71518
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Highly arched eyebrow, Synophrys, Low-set ears, Thick eyebrow OMIM:614701
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Adult onse... ORPHA:1368
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Low-set ears OMIM:616910
Otofaciocervical Syndrome
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... ORPHA:2792
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Craniometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia ORPHA:921
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Ataxia, Sensorineural hearing impairment, Steppage gait, Gait disturbance, Falls, ... OMIM:617882
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Dystonia, Tremor, Impaired vibration sensation in the lower limbs, Impaired propr... ORPHA:251282
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Conductive hearing impairment, Sparse body hair, Aplasi... ORPHA:1006
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e... OMIM:609136
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormal antihelix morphology ORPHA:3145
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Self-injurious behavior, EEG abnormality, Dystonia, Stereotypical hand... OMIM:618760
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Distichiasis, Abnormal hair quantity ORPHA:1997
Mullegama-Klein-Martinez Syndrome
Facial palsy, Curly eyelashes, Sensorineural hearing impairment, Unsteady gait, Low anterior hair... OMIM:301022
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Sensorineural hearing impairment, Optic atrophy, Low posterior hairline, Low-set ears, Conductive... OMIM:618672
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy ORPHA:791
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... ORPHA:87
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:2213
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu... ORPHA:580
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Zechi-Ceide Syndrome
Thick hair, Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Condu... ORPHA:217017
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Wide anterior fontanel, Generalized hypertricho... ORPHA:798
Larsen-Like Syndrome
Conductive hearing impairment, Wide anterior fontanel, Recurrent otitis media, Low-set ears OMIM:608545
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Cleft Velum
Recurrent otitis media, Conductive hearing impairment, Oral-pharyngeal dysphagia ORPHA:99772
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... OMIM:618917
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Dysphagia, Long eyelashes, Bilateral conductive hearing impairment, Low-set ea... OMIM:617802
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Sparse eyelashes, Atresia of the external auditory canal OMIM:300946
Radio-Tartaglia Syndrome
Thick eyebrow, Ataxia, Highly arched eyebrow, Long eyebrows, Aggressive behavior, Impulsivity, Sy... OMIM:619312
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Dysto... OMIM:600795
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Dystonia, A... OMIM:618218
Saethre-Chotzen Syndrome
Abnormal hair pattern, Prominent crus of helix, External ear malformation, Sensorineural hearing ... ORPHA:794
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Brain a... OMIM:619092
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Hypsarrhythmia, Athetosis, EEG abnormality, Gait disturbance, Dystonia, Recur... OMIM:618141
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Abnormal hair morphology, Aplasia/Hypoplasia of the earlobes, Abnormal antihel... ORPHA:3082
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Ataxia ORPHA:1861
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Bruxism, Cerebral atrophy, ... OMIM:617435
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock OMIM:600193
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Sensorineural hearing impairment, Low posterior hairline, Conductive he... OMIM:118100
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... OMIM:609166
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Supernumerary nipple, Cupped ear, Microtia, Conductive hearing... ORPHA:246
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearin... OMIM:616367
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Sensorineural hearing impairment, Difficulty walking, Dystonia, Hearing impairment OMIM:616684
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a... ORPHA:275864
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia OMIM:300624
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... OMIM:617695
Frontonasal Dysplasia 1
Conductive hearing impairment, Widow's peak, Low-set ears OMIM:136760
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment, Leukonychia ORPHA:2698
Non-Functioning Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Conductive hearing imp... ORPHA:94080
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... ORPHA:949
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Optic atrophy, Dysphagia, Cerebral atrophy, Choreoathetosis, Bilateral ... OMIM:619422
Gorham-Stout Disease
Torticollis, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Abnormality of the tympanic membrane, Abnormality of the auditory ... ORPHA:66627
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Low-set ears, Conductive hearing ... OMIM:617412
Christianson Syndrome
Cerebellar atrophy, Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Neuronal loss in ce... ORPHA:85278
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Facial palsy, Absent eyelashes, Protruding ear, Microtia, Atresia of th... ORPHA:2316
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:93262
Kbg Syndrome
Abnormal hair pattern, Synophrys, EEG abnormality, Bilateral conductive hearing impairment, Macro... ORPHA:2332
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... ORPHA:206443
East Syndrome
Cerebellar atrophy, Salt craving, Ataxia, Inability to walk, Sensorineural hearing impairment, Hy... ORPHA:199343
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Atresia of the external auditory ca... ORPHA:1488
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor,... ORPHA:99027
Burn-Mckeown Syndrome
Conductive hearing impairment, Hearing impairment, Protruding ear OMIM:608572
Distal Deletion 10Q
Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Widow's peak, Unsteady ... ORPHA:96148
Oculoskeletodental Syndrome
Conductive hearing impairment, Abnormality of the frontal hairline, Sensorineural hearing impairm... ORPHA:557003
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick... OMIM:614104
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Alopecia, Sensorineural hearing impairment OMIM:135100
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Birk-Landau-Perez Syndrome
Dystonia, Hyperkalemia, Optic atrophy, Limb ataxia, Choreoathetosis, Difficulty walking, Increase... OMIM:617595
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Papilledema, Sensorineural hearing impairment, Optic atrophy, Conductive hearing im... ORPHA:217085
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment ORPHA:3238
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Tremor ORPHA:66633
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Synophrys, Inability to walk, Low anterior hairline, Multifocal epileptiform... ORPHA:411986
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive... OMIM:619690
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Papilledema, Sensorineural hearing impairment, Optic atrophy, Conductive hearing im... ORPHA:217093
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment OMIM:601076
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst... ORPHA:261197
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Protruding ear, Conductive h... ORPHA:1131
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... OMIM:618342
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Abnormality of the outer ear, Self ... OMIM:182290
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... ORPHA:2789
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple... OMIM:619317
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:604804
Cleft Lip/Palate
Conductive hearing impairment, Recurrent otitis media, Oral-pharyngeal dysphagia ORPHA:199306
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Noonan Syndrome
Low-set, posteriorly rotated ears, Abnormal hair quantity, Aplasia of the semicircular canal, Sen... ORPHA:648
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Optic Atrophy 11
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ... OMIM:617302
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex... OMIM:608257
19P13.12 Microdeletion Syndrome
Hyperactivity, External ear malformation, Sensorineural hearing impairment, Synophrys, Self-injur... ORPHA:254346
Acrootoocular Syndrome
Sensorineural hearing impairment, Abnormal earlobe morphology, Pseudopapilledema, Atresia of the ... ORPHA:2980
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Sparse scalp hair, Protruding ear, Conductive hearing impairme... ORPHA:502
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr... ORPHA:504476
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms DECIPHER:45
Phaver Syndrome
Posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Low-set ears, Conductive hearing im... ORPHA:2876
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Smith-Magenis Syndrome
Synophrys, EEG abnormality, Self-injurious behavior, Gait disturbance, Attention deficit hyperact... ORPHA:819
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:619260
Agnathia-Otocephaly Complex
Conductive hearing impairment, Low-set ears, Synotia OMIM:202650
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... ORPHA:2878
Rhyns Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:602152
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Sparse eyebrow, Sensorineural hearing impairm... OMIM:606164
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Aplasia/Hypoplasia of... ORPHA:990
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Synophrys, Posteriorly rotated ears, Low-set ears OMIM:617877
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... OMIM:619580
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Distal Limb Deficiencies-Micrognathia Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ears ORPHA:1307
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Low ante... OMIM:618004
Foxg1 Syndrome
Dystonia, Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive ma... ORPHA:561854
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Broad-based gait, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms, He... OMIM:616351
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Difficulty walking, Dystonia, Abnormal repetitive mannerisms, ... ORPHA:280763
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Papilledema, Absent malleus, Conductive hearing impairment, Chronic otitis media OMIM:614188
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline OMIM:617523
Huntington Disease-Like 1
Cerebellar atrophy, Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, EEG ab... ORPHA:157941
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology ORPHA:199302
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Atresia of the externa... OMIM:106260
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal, Simple ear OMIM:602471
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
2Q37 Microdeletion Syndrome
Sparse scalp hair, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Compulsive behavi... ORPHA:1001
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Prematur... ORPHA:3440
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Ogden Syndrome
Abnormal head movements, Torticollis, Fine hair, Shuffling gait, Low-set ears, Macrotia, Aplasia/... ORPHA:276432
Mucopolysaccharidosis Type 3
Synophrys, Coarse hair, Otitis media, Thickened helices, Conductive hearing impairment, Loss of a... ORPHA:581
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Marshall-Smith Syndrome
Conductive hearing impairment, Optic atrophy, Generalized hirsutism ORPHA:561
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... OMIM:617807
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media, Gait disturbance OMIM:156550
Rett Syndrome
Increased serum pyruvate, Dystonia, Inability to walk, Hyperammonemia, EEG abnormality, Gait dist... ORPHA:778
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Increased circula... ORPHA:3240
Mandibulofacial Dysostosis, Guion-Almeida Type
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... OMIM:610536
Congenital Disorder Of Glycosylation, Type Iit
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:618885
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... OMIM:600430
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Dystonia-Deafness Syndrome 1
Generalized dystonia, Oculogyric crisis, Sensorineural hearing impairment, Leg dystonia, Pseudobu... OMIM:607371
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe... OMIM:619725
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Chromosome 18Q Deletion Syndrome
Broad-based gait, Tremor, Sensorineural hearing impairment, Optic atrophy, Low anterior hairline,... OMIM:601808
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Co... ORPHA:168491
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropr... ORPHA:309246
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Low-set ears, Conduct... OMIM:613309
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Distal Deletion 19P
Low-set, posteriorly rotated ears, Alopecia, Sensorineural hearing impairment, Conductive hearing... ORPHA:96129
Down Syndrome
Aganglionic megacolon, Gait disturbance, Sparse hair, Round ear, Conductive hearing impairment ORPHA:870
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Premature graying of hair, Abnormal pinna morphology, Low-set, pos... ORPHA:1297
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Conductive hearing imp... ORPHA:276621
Van Maldergem Syndrome 2
Wide anterior fontanel, Sensorineural hearing impairment, High anterior hairline, Microtia, Atres... OMIM:615546
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Coarse hair, Low-set ears, Cond... OMIM:130720
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac... OMIM:301029
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Hearing impairment OMIM:616229
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... ORPHA:352490
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment, Ataxia OMIM:620012
Sotos Syndrome
Posteriorly rotated ears, Aggressive behavior, Sparse eyebrow, Low-set ears, Otitis media, Conduc... OMIM:117550
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Brain atrophy, Hearing impairment OMIM:620114
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Hypocholesterolemia, Abnormal repetiti... OMIM:610883
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... ORPHA:247815
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhy... ORPHA:457351
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Giant Cell Arteritis
Alopecia, Ataxia, Anorexia, Vertigo, Optic atrophy, Conductive hearing impairment, Hearing impair... ORPHA:397
Rabin-Pappas Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia, Highly a... OMIM:620155
Crouzon Syndrome
Conductive hearing impairment, Optic atrophy, Atresia of the external auditory canal OMIM:123500
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Gait... ORPHA:682
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Gait disturbance, Abnormality of... ORPHA:90354
Björnstad Syndrome
Alopecia, Sensorineural hearing impairment, Brittle hair ORPHA:123
Huntington Disease-Like 3
Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Dyst... ORPHA:157946
Beckwith-Wiedemann Syndrome
Otosclerosis, Wide anterior fontanel, Abnormal earlobe morphology, Anterior creases of earlobe, P... ORPHA:116
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia OMIM:171480
Van Maldergem Syndrome 1
Wide anterior fontanel, Sensorineural hearing impairment, Microtia, Atresia of the external audit... OMIM:601390
Kapur-Toriello Syndrome
Conductive hearing impairment, Low-set ears, Low posterior hairline OMIM:244300
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Stickler Syndrome, Type I
Conductive hearing impairment, Sensorineural hearing impairment OMIM:108300
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Facial palsy OMIM:123000
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment ORPHA:238750
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
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 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Craniometaphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Optic atrophy, Facial palsy OMIM:218400
Congenital Disorder Of Glycosylation, Type Iig
Posteriorly rotated ears, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of the ... OMIM:611209
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Long eyelashes, Low-set ears, Thickened helices, Overfolded helix, Broa... OMIM:608624
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Salt craving, Ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, H... OMIM:612780
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Low-set ears OMIM:618598
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Head tremor, Continuous spike ... OMIM:619428
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Choreoathetosis, Dystonia, Jerky head movements OMIM:245348
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Sensorineur... ORPHA:51608
Osteopathia Striata-Cranial Sclerosis Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Facial palsy, Low-set ears ORPHA:2780
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia, Tinnitus ORPHA:403
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Optic nerve hypoplasia OMIM:609053
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... OMIM:617101
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... OMIM:616331
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, Highly arched eyebrow, External ear malformation... ORPHA:138
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait disturbance, Difficulty ... ORPHA:90321
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hypo... ORPHA:94093
Primary Ciliary Dyskinesia
Conductive hearing impairment, Recurrent otitis media, Chronic otitis media, Hearing impairment ORPHA:244
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Condu... ORPHA:2754
Immunodeficiency 23
Conductive hearing impairment, Sensorineural hearing impairment, Ataxia OMIM:615816
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Self-injurious behavior, Microtia, Ataxia ORPHA:314679
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements ORPHA:240103
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Cupped ear, Supernumerary nipple, Low-set ears OMIM:263750
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media OMIM:244400
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Synophrys, Aplasia of the inner ear, Microt... ORPHA:90024
Carpenter Syndrome 1
Abnormal pinna morphology, Sensorineural hearing impairment, Optic atrophy, Low-set ears, Conduct... OMIM:201000
Treacher-Collins Syndrome
Absent eyelashes, Abnormal hair morphology, Low anterior hairline, Blepharospasm, Microtia, Condu... ORPHA:861
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Autosomal Recessive Multiple Pterygium Syndrome
Hearing abnormality, Low posterior hairline, Gait disturbance, Low-set ears, Conductive hearing i... ORPHA:2990
3Mc Syndrome 1
Highly arched eyebrow, Supernumerary nipple, Wide anterior fontanel, Synophrys, Conductive hearin... OMIM:257920
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Synophrys, Promi... ORPHA:466943
Larsen Syndrome
Conductive hearing impairment, Short nail ORPHA:503
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms, Abnormal circulating... ORPHA:79155
Otopalatodigital Syndrome, Type I
Conductive hearing impairment, Nail dystrophy OMIM:311300
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s... OMIM:618430
Hennekam-Beemer Syndrome
Conductive hearing impairment, Microtia, Optic atrophy, Hearing impairment ORPHA:2135
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Conductive hearing imp... ORPHA:29072
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Ataxia, External ear malformation, Optic atrophy, Ab... ORPHA:2710
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Sensorineural hearing impairment, Cupped ear, Optic disc coloboma, Low-... OMIM:300472
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... ORPHA:363558
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment, Ataxia ORPHA:309288
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxism, Rec... OMIM:617903
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct ORPHA:18
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... ORPHA:397612
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, D... OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,... OMIM:300260
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron, Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, At... ORPHA:391372
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Protruding ear, Athetosis, EEG abnormality, Bruxism, Abnormal... OMIM:613454
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Macrotia, Cerebr... OMIM:617864
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Shprintzen-Goldberg Craniosynostosis Syndrome
Abnormal pinna morphology, Posteriorly rotated ears, Wide anterior fontanel, Low-set ears, Conduc... OMIM:182212
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Incomplete partition of the cochlea type II OMIM:617660
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Romano-Ward Syndrome
Hypokalemia, Abnormal autonomic nervous system physiology, Hearing impairment ORPHA:101016
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Hir... OMIM:235510
Frontorhiny
Low-set, posteriorly rotated ears, Widow's peak, Congenital conductive hearing impairment ORPHA:391474
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Attention ... ORPHA:98784
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Sparse eyelashes, Sparse eyebrow, Widow's peak, Conductive hea... ORPHA:306542
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Compulsive... ORPHA:401777
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Leukocyte Adhesion Deficiency Type Ii
Ataxia, Low anterior hairline, Impaired tandem gait, Microtia, Recurrent otitis media, Long eyela... ORPHA:99843
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Bilateral sensorineural hearing impairment OMIM:602722
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Protruding ear, Coarse hair, Sparse hair,... ORPHA:1071
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Posteriorly rotated ears ORPHA:2215
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Wide anterior fontanel, ... ORPHA:401973
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... OMIM:619435
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Hypokalemia, Tinnitus, Decreased circulating renin level ORPHA:231580
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Anorexia, Vertigo, Hyperkalemia, Hyperuricemia ORPHA:199299
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughte... OMIM:618347
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... OMIM:610042
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance, Hyperbilirubinemia OMIM:301094
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Eleva... OMIM:300352
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Conductive hearing impairment, Recurrent otitis media OMIM:250420
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Dysphagia, L... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear... OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, Waddling gait, High-frequency sensorineu... OMIM:614557
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... ORPHA:3306
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Optic atrophy, L... ORPHA:79330
Oculodentodigital Dysplasia
Dry hair, Abnormal pinna morphology, Slow-growing hair, Ataxia, Fine hair, Sparse hair, Conductiv... OMIM:164200
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Tick-Borne Encephalitis
Facial palsy, Anorexia, Tremor, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyn... ORPHA:297
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microtia OMIM:603467
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal... OMIM:618205
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Transketolase Deficiency
Elevated circulating ribitol concentration, Self-injurious behavior, Attention deficit hyperactiv... ORPHA:488618
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Gait ataxia, Low-set ears, Brain atrophy, Abnormal repetitive mannerisms... OMIM:616579
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... OMIM:617061
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ataxia, Inability to walk, Bilateral conductive hearing impairment, Gait imbalance, Hearing impai... ORPHA:488642
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Achondroplasia
Conductive hearing impairment, Recurrent otitis media OMIM:100800
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical b... OMIM:300912
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia, Vertigo, Hyperkalem... ORPHA:95409
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Native American Myopathy
Conductive hearing impairment, Inability to walk ORPHA:168572
Monosomy 18Q
Sensorineural hearing impairment, Low anterior hairline, Choreoathetosis, Bilateral conductive he... ORPHA:1600
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Pgm3-Cdg
Mild neurosensory hearing impairment, Ataxia, Sensorineural hearing impairment, Conductive hearin... ORPHA:443811
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia, Hypokalemia, Tinnitus ORPHA:369929
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Cupped ear, Low-set ears OMIM:615560
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Abno... ORPHA:927
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... ORPHA:500159
Cornelia De Lange Syndrome 1
Curly eyelashes, Abnormal incisura morphology, Highly arched eyebrow, Sensorineural hearing impai... OMIM:122470
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia, ... ORPHA:2479
Mohr Syndrome
Conductive hearing impairment OMIM:252100
Dilated Cardiomyopathy With Ataxia
Dystonia, Ataxia, Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing ... ORPHA:66634
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, ... ORPHA:845
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... OMIM:617796
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Cockayne Syndrome Type 3
Optic disc pallor, Dry hair, Unsteady gait, Premature graying of hair, Adult onset sensorineural ... ORPHA:90324
Cerebrooculonasal Syndrome
Posteriorly rotated ears, Optic nerve hypoplasia, Sparse eyelashes, Sparse eyebrow, Low-set ears,... OMIM:605627
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia, Posteriorly rot... OMIM:616835
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention deficit hyperactivity di... OMIM:619121
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears OMIM:618500
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:215150
Mucolipidosis Type Ii
Dry hair, Inability to walk, Sensorineural hearing impairment, White hair, Fine hair, Otitis medi... ORPHA:576
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Brain atrophy, Cerebral cortical atroph... OMIM:620327
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypokalemia, Tinnitus ORPHA:251274
Codas Syndrome
Conductive hearing impairment, Crumpled ear, Sensorineural hearing impairment OMIM:600373
48,Xxyy Syndrome
Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic otitis media, Abnormal repetiti... ORPHA:10
Floating-Harbor Syndrome
Restlessness, Broad-based gait, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsi... ORPHA:2044
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Mixed hearing impairment, Synophrys, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:300990
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Recurrent otitis media ORPHA:2502
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears, Hypoplasia of the... OMIM:618175
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Synophrys, Gait disturbance, Conductive hearing impairm... ORPHA:3042
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Absent nipple, Facial palsy, Sparse eyebrow, Optic disc coloboma, Sever... OMIM:620186
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypokalemia, Decreased circulating renin level OMIM:613677
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t... ORPHA:320406
Baller-Gerold Syndrome
Conductive hearing impairment ORPHA:1225
Shprintzen-Goldberg Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears, Protruding ear ORPHA:2462
Bosma Arhinia Microphthalmia Syndrome
Abnormal pinna morphology, Absent tragus, Synophrys, Atresia of the external auditory canal, Cond... OMIM:603457
Frontometaphyseal Dysplasia 2
Thick eyebrow, Abnormal pinna morphology, Sensorineural hearing impairment, Low anterior hairline... OMIM:617137
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... ORPHA:208447
Cockayne Syndrome A
Dry hair, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... OMIM:216400
Faundes-Banka Syndrome
Sparse scalp hair, Cupped ear, Microtia, Long ear, Low-set ears, Dysphagia, Conductive hearing im... OMIM:619376
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal ORPHA:1393
Congenital Myopathy 13
Conductive hearing impairment, Low-set ears OMIM:255995
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnor... ORPHA:909
Trisomy 8P
Posteriorly rotated ears, Aplasia/Hypoplasia of the tragus, Low posterior hairline, Conductive he... ORPHA:264450
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:277170
Kabuki Syndrome
Highly arched eyebrow, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Long ey... ORPHA:2322
Duane Retraction Syndrome
Patchy hypopigmentation of hair, External ear malformation, Sensorineural hearing impairment, Low... ORPHA:233
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Gait disturbance, Hypoplastic nipples, Low-set ears, Co... OMIM:265000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Cockayne Syndrome B
Dry hair, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... OMIM:133540
Cystinosis
Hypokalemia, Gait disturbance, Hypophosphatemia, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Violent behavior, Broad-based gait, Uplifted earlobe, Highly arched eyebrow, Fine hair, Gait atax... OMIM:280000
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Multifoc... OMIM:619229
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... OMIM:300986
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... OMIM:613174
Kyphoscoliotic Ehlers-Danlos Syndrome
Sensorineural hearing impairment, Synophrys, Low-set ears, Difficulty walking, Conductive hearing... ORPHA:536545
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Distal Deletion 12Q
Hyperactivity, Prominent ear helix, Wide anterior fontanel, Fine hair, Microtia, Bilateral conduc... ORPHA:96149
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Impaired pain sensation, Sensorineural hearing impairment, Hyp... ORPHA:293987
Turnpenny-Fry Syndrome
Sparse scalp hair, Torticollis, Wide anterior fontanel, Microtia, Low-set ears, Attention deficit... OMIM:618371
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Curly hair, Mixed hearing impairment, Thick hair, Highly arche... ORPHA:444077
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Anorexia ORPHA:361
Feingold Syndrome Type 1
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:391641
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el... ORPHA:79102
Hajdu-Cheney Syndrome
Thick eyebrow, Short nail, Synophrys, Large earlobe, Long eyelashes, Low-set ears, Conductive hea... OMIM:102500
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Treacher Collins Syndrome 1
Sparse lower eyelashes, Preauricular hair displacement, Microtia, Atresia of the external auditor... OMIM:154500
Acro-Renal-Ocular Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic disc coloboma, Aganglionic... ORPHA:959
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... OMIM:616364
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Supernumerary nipple, Inability to walk, Sensorineural hearing impairment... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Supernumerary nipple, Inability to walk, Sensorineural hearing impairment... ORPHA:352665
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L... OMIM:212066
Familial Hyperaldosteronism Type Ii
Hypokalemia, Tinnitus ORPHA:404
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:427
Ethylene Glycol Poisoning
Ataxia, Facial palsy, Hyperkalemia, Addictive alcohol use, Hypocalcemia ORPHA:31826
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... OMIM:606232
Addison Disease
Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia, Vertigo, Hyperkalem... ORPHA:85138
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
3P25.3 Microdeletion Syndrome
Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac... ORPHA:435638
Frontometaphyseal Dysplasia
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... ORPHA:1826
Hunter-Macdonald Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:611962
Liddle Syndrome
Hypokalemia ORPHA:526
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Paresthesia, Tinnitus, Decreased circulating renin level ORPHA:231625
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Optic a... ORPHA:496641
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia ORPHA:438216
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Anorexia OMIM:611590
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Inability to walk, Sensorineural h... ORPHA:300570
Larsen Syndrome
Conductive hearing impairment, Short nail, Hearing impairment OMIM:150250
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequen... OMIM:619103
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia OMIM:617281
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Sensorineural hearing impairment,... ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
Synophrys, Thickened helices, Conductive hearing impairment, Self-mutilation, Oppositional defian... OMIM:607872
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Osteopathia Striata With Cranial Sclerosis
Posteriorly rotated ears, Facial palsy, Microtia, Low-set ears, Conductive hearing impairment, Ov... OMIM:300373
Hennekam Syndrome
Conductive hearing impairment, External ear malformation, Sparse axillary hair, Low-set ears ORPHA:2136
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Tinnitus, Decreased circulating renin level ORPHA:231632
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... OMIM:610253
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... OMIM:619293
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal pinna morphology, Wide anterior fontanel, Abnormal earlobe morphology, Abnormal antiheli... ORPHA:95699
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti... ORPHA:468678
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... OMIM:615656
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Posteriorly rotated ears, Sparse lower eyelashes, Absent lower eyelashes, ... OMIM:154400
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Ataxia OMIM:608885
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... ORPHA:649
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia OMIM:175500
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... OMIM:619695
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit ... ORPHA:476126
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia OMIM:617301
Acrofrontofacionasal Dysostosis 1
Mixed hearing impairment, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashes OMIM:201180
Branchiooculofacial Syndrome
Posteriorly rotated ears, Facial palsy, Supernumerary nipple, Sensorineural hearing impairment, L... OMIM:113620
Marshall-Smith Syndrome
Thick eyebrow, Brittle hair, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Hypertrich... OMIM:602535
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Lathosterolosis
Conductive hearing impairment OMIM:607330
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Cardiac-Valvular Ehlers-Danlos Syndrome
Severe conductive hearing impairment, Thick eyebrow ORPHA:230851
Mirage Syndrome
Hyponatremia, Hyperkalemia OMIM:617053
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe... ORPHA:457279
Campomelic Dysplasia
Short nail, Wide anterior fontanel, Low-set ears, Conductive hearing impairment, Hearing impairment OMIM:114290
Orofaciodigital Syndrome Type 4
Microtia, third degree, Posteriorly rotated ears, Abnormality of the ear, Low-set ears, Conductiv... ORPHA:2753
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Asparagine Synthetase Deficiency
Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst sup... OMIM:615574
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia OMIM:272750
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Cranial nerve compression, Macrotia, Optic atrophy ORPHA:2785
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Gitelman Syndrome
Salt craving, Ataxia, Vertigo, Hypokalemia, Paresthesia, Increased circulating renin level, Hypom... OMIM:263800
Pycnodysostosis
Mild conductive hearing impairment ORPHA:763
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear... ORPHA:2363
Fontaine Progeroid Syndrome
Sparse scalp hair, Absent nipple, Posteriorly rotated ears, Wide anterior fontanel, Synophrys, Lo... OMIM:612289
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Low-set ea... ORPHA:314585
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mann... OMIM:615802
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:117650
Floating-Harbor Syndrome
Posteriorly rotated ears, Aggressive behavior, Low posterior hairline, Recurrent otitis media, Lo... OMIM:136140
Mercury Poisoning
Tremor, Hypokalemia, Anorexia, Dystonia ORPHA:330021
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Low-set ears, EEG with... ORPHA:369837
Down Syndrome
Conductive hearing impairment, Microtia, Aganglionic megacolon OMIM:190685
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Highly arched eyebrow, Sensorineural hearing impairment, Low posterior... OMIM:194190
Fraser Syndrome 1
Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Cupped ear, Extension of hair growth... OMIM:219000
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia OMIM:613090
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Highly arched eyeb... OMIM:259775
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Mic... OMIM:129900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... OMIM:619575
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Protruding ear, Hypsarrhythmia, Low-set ears, Dysphagia, Brain atrop... ORPHA:447997
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Thick hair, Protruding ear ORPHA:2751
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Intenti... OMIM:619475
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Curly eyelashes, Highly arched eyebrow, Sensorineural hearing ... ORPHA:199
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overf... OMIM:617330
Kleefstra Syndrome
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Cerebral cortical atrophy, Th... ORPHA:261494
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga... ORPHA:96121
Apparent Mineralocorticoid Excess
Polydipsia, Hypokalemia, Decreased circulating renin level ORPHA:320
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior... OMIM:614756
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Highly arched eyebrow, Trichiasis, Aggressive behavior, Abnormal fear-induced beha... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Highly arched eyebrow, Trichiasis, Aggressive behavior, Abnormal fear-induced beha... ORPHA:353277
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Vertigo, Hyperkalemia, Hyperphosphate... ORPHA:466650
Baller-Gerold Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Wide anterior fontane... OMIM:218600
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing... ORPHA:79255
Developmental And Epileptic Encephalopathy 2
Inability to walk, EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhyt... OMIM:300672
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Hyponatremia, Hyperkalemia ORPHA:293978
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Sparse scalp hair, Highly arched eyebrow, Mild conductive hear... ORPHA:221120
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic nerve hypoplasia ORPHA:79345
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia, C... OMIM:617527
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Optic atrophy, Overfolded helix, Low-set ears, Attention deficit hyperacti... ORPHA:567
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Hutchinson-Gilford Progeria Syndrome
High-frequency sensorineural hearing impairment, Absent eyebrow, Alopecia totalis, Prominent ear ... ORPHA:740
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia OMIM:613239
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Helix Syndrome
Hypokalemia, Polydipsia, Hypermagnesemia OMIM:617671
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Inability to walk, Optic atrophy, Hypokalemia, Hypocalcemia, Brain atro... OMIM:617913
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Cerebral cortical atrophy OMIM:618201
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Posteriorly rotated ears, Oral-pharyngeal ... OMIM:619488
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Mixed hearing impairment, Ataxia, Highly arched eyebrow, Sensorineural hearing... ORPHA:309282
Pitt-Hopkins Syndrome
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms OMIM:610954
Fraser Syndrome
Low-set, posteriorly rotated ears, Abnormal hair pattern, External ear malformation, Atresia of t... ORPHA:2052
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Pol... OMIM:602522
Sandhoff Disease
Orthostatic hypotension, Ataxia, Exaggerated startle response, Impaired temperature sensation OMIM:268800
Otopalatodigital Syndrome, Type Ii
Posteriorly rotated ears, Wide anterior fontanel, Widow's peak, Low-set ears, Conductive hearing ... OMIM:304120
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set ears, Recurrent han... OMIM:615485
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation ORPHA:340
Nmda Receptor Encephalitis
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, EEG ... ORPHA:217253
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas... OMIM:620330
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:168558
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Hearing impairment OMIM:619377
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Torticollis, Posteriorly rotated ears, Peripapillary atrophy, Low-set ears ORPHA:536467
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:289548
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Cerebral atrophy, Microtia, Low-set e... OMIM:301040
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Corticosteroid-Binding Globulin Deficiency
Hypokalemia OMIM:611489
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Sensorineural hearing impairment OMIM:272460
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in... OMIM:619512
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Dystonia, Ataxia, Dysphagia OMIM:607625
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Developmental And Epileptic Encephalopathy 100
Chorea, EEG with photoparoxysmal response, Cerebral atrophy, Gait ataxia, Choreoathetosis, Brain ... OMIM:619777
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Branchioskeletogenital Syndrome
Attached earlobe, Mixed hearing impairment, Absent nipple, Highly arched eyebrow, Synophrys, Larg... ORPHA:1299
Neurooculorenal Syndrome
Mixed hearing impairment, Highly arched eyebrow, Sensorineural hearing impairment OMIM:620305
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Sotos Syndrome
Aganglionic megacolon, Aggressive behavior, Tremor, Sparse anterior scalp hair, Attention deficit... ORPHA:821
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... OMIM:301066
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Hypokalemia, Decreased circulating renin level OMIM:615474
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Cerebral atrophy, Protruding ear, Microtia, Attention deficit hy... OMIM:301030
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia,... ORPHA:468631
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Mowat-Wilson Syndrome
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Ataxia, Inab... ORPHA:2152
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cerebral cortical atrophy ORPHA:309155
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... ORPHA:513456
Peters Plus Syndrome
Conductive hearing impairment, Microtia, second degree, Optic atrophy, Low-set, posteriorly rotat... ORPHA:709
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Paresthesia, Incr... OMIM:241200
Bartter Syndrome Type 4
Hyponatremia, Protruding ear, Hypochloremia, Hypokalemia, Increased circulating renin level, Bila... ORPHA:89938
Robinow Syndrome
Mixed hearing impairment, Posteriorly rotated ears, High anterior hairline, Low-set ears ORPHA:97360
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repe... OMIM:619005
Infantile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Pearson Syndrome
Ataxia, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Dysphagia, Hyperalaninemia, ... ORPHA:699
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Protruding ear, Gait disturbance, Attention deficit hyperactivity disorder, Ab... ORPHA:464311
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overfolded helix, Difficulty walking, Abnormal repetitive mannerisms, Low-set ears OMIM:618653
Gitelman Syndrome
Salt craving, Vertigo, Hypermagnesemia, Hypokalemia, Paresthesia, Hypocalcemia, Hypomagnesemia, P... ORPHA:358
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive... ORPHA:464306
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Rabson-Mendenhall Syndrome
Polydipsia, Macrotia, Hypokalemia, Increased C-peptide level ORPHA:769
Craniofacial Microsomia 1
Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditory canal, Condu... OMIM:164210
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Cerebral atrophy, Protruding ... OMIM:309590
Arboleda-Tham Syndrome
Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atroph... OMIM:616268
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hyponatremia, Hypoammonemia, Protruding ear, Hypophosphatemia,... ORPHA:534
Kinsship Syndrome
Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Bruxism OMIM:619297
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Conductive hearing impairment, Low-set ears, Simple ear OMIM:201750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:253800
Osteogenesis Imperfecta
Mixed hearing impairment, Ataxia, Progressive hearing impairment, Gait disturbance, Dysphagia, Lo... ORPHA:666
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Low-set ears OMIM:170390
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear... OMIM:615873
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Cerebellar atrophy, Ataxia, Cerebral atrophy, Hypokalemia, Global brain atrophy OMIM:618426
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, EEG with generalized slow activity, Dysphagia OMIM:618367
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... ORPHA:508498
Focal Dermal Hypoplasia
Mixed hearing impairment, Brittle hair, Supernumerary nipple, Optic atrophy, Patchy alopecia, Hyp... OMIM:305600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Scorpion Envenomation
Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Hypokalemia, Paresth... ORPHA:466677
Cystinosis, Nephropathic
Hyponatremia, Oral-pharyngeal dysphagia, Hypomagnesemia, Reduced blood urea nitrogen, Hypophospha... OMIM:219800
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Ataxia, Elevated circulating alpha-fetopr... OMIM:259050
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... OMIM:619325
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron... ORPHA:438213
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... OMIM:301044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... OMIM:619522
Ogden Syndrome
Torticollis, Cerebral atrophy, Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, H... OMIM:300855
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Pa... OMIM:601678
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ... OMIM:612474
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Microtia, Cupped ear, Hearing impairment OMIM:149730
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Aggressive behavior, Dysesthesia, H... ORPHA:99826
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Tsh-Secreting Pituitary Adenoma
Tremor, Vertigo, Hypokalemia ORPHA:91347
Leprechaunism
Hypokalemia, Increased circulating renin level, Low-set ears, Protruding ear ORPHA:508
Proximal Renal Tubular Acidosis
Hypokalemia, Polydipsia, Bicarbonaturia ORPHA:47159
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Nelson Syndrome
Hypokalemia, Optic nerve compression ORPHA:199244
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai... ORPHA:261537
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai... ORPHA:261552
Vascular Ehlers-Danlos Syndrome
Vertigo, Aplasia/Hypoplasia of the earlobes, Hypokalemia, Protruding ear ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pou3f4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pou3f4.

No publications found that use IMPC mice or data for Pou3f4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pou3f4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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