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Gene: Pou4f3 MGI:102523

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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 4, transcription factor 3
Synonyms:
Brn3c,  Brn3.1,  Brn-3.1

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 Pou4f3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pou4f3 by orthology or direct annotation.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Deafness, Autosomal Recessive 2
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Deafness, Autosomal Dominant 11
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
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
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
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
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
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
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment ORPHA:2698
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300425
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy ORPHA:1513
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:209850
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Progressive hearing impairmen... OMIM:614296
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:607373
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... ORPHA:52368
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:604804
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia, Atrophy/Degeneration affecting the brainst... ORPHA:99852
Myxopapillary Ependymoma
Autonomic bladder dysfunction, Abnormality of the auditory canal ORPHA:251643
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... OMIM:609166
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
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
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Aggressive behavior, Progressive hearing impairment, Abnormal au... ORPHA:97229
Craniometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... OMIM:614063
Craniometaphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Optic atrophy, Facial palsy OMIM:218400
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... OMIM:118100
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... OMIM:609425
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Facial palsy OMIM:123000
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231183
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment OMIM:620270
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology, Hearing impairment OMIM:610743
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231169
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Progressive hearing impairment, Bilateral sensorineural hearing impairment OMIM:124950
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Bruxism, Self-injurious behavior, EEG abnormality, Brain atrophy, Low-set ... OMIM:618718
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia OMIM:617830
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy OMIM:300983
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, S... OMIM:606164
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Atresia of the external audi... OMIM:243180
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Dysphagia, Hand tremor, Atrophy/Degeneration affecting the brainstem, Recurre... OMIM:617862
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Posteriorly rotated ears, Cupped ear, Agitation, Abnormal autonomic nervou... OMIM:613870
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Mitchell Syndrome
Abnormal autonomic nervous system physiology, Dysphagia OMIM:618960
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder OMIM:617935
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell... ORPHA:95433
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Merrf
Sensorineural hearing impairment, Optic atrophy ORPHA:551
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
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Sensorineural hearing impairment, Facial palsy OMIM:609283
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
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
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
EEG abnormality, Self-injurious behavior, Dystonia, Abnormal repetitive mannerisms, Cerebral cort... OMIM:617820
Schizophrenia 15
Hyperactivity OMIM:613950
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology, Impulsivity ORPHA:101046
Leukodystrophy, Hypomyelinating, 12
Temperature instability, Optic atrophy, Abnormal autonomic nervous system physiology, Hearing imp... OMIM:616683
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Polyphagia, Abnormal autonomic nervous system... ORPHA:369873
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment ORPHA:309288
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Continuous spike and waves ... OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment OMIM:620012
Parkinsonism-Dystonia 2, Infantile-Onset
Temperature instability, Abnormal autonomic nervous system physiology OMIM:618049
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:300495
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Adult onset sensorineural ... ORPHA:1368
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, Bruxism, EEG abnormality, Inappropriate laughter, Dystonia, Abnormal repetit... OMIM:619150
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior ORPHA:329284
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Thickened helices, Mixed hearing impairment, Overfolded helix, Low-set ears OMIM:608624
Leber Congenital Amaurosis With Early-Onset Deafness
Sensorineural hearing impairment, Peripapillary atrophy OMIM:617879
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Phonic tics, Hippocampal atrophy, Co... OMIM:301107
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive... OMIM:619690
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology OMIM:214300
Pontocerebellar Hypoplasia, Type 11
Decreased body weight, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious b... OMIM:617695
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy ORPHA:791
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Hyperostosis Corticalis Generalisata
Sensorineural hearing impairment, Facial palsy ORPHA:3416
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Dystonia, Neuronal loss... OMIM:600795
Christianson Syndrome
Cerebellar atrophy, Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Neuronal loss in central ne... ORPHA:85278
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy, Recurrent fever, Hearing impairment ORPHA:369939
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Stxbp1-Related Encephalopathy
Hyperactivity, EEG with abnormally slow frequencies, Tremor, Multifocal epileptiform discharges, ... ORPHA:599373
7Q31 Microdeletion Syndrome
Torticollis, Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-... ORPHA:251061
Infantile Neuroaxonal Dystrophy
Hyperactivity, Impulsivity, Optic atrophy, Abnormal autonomic nervous system physiology, Choking ... ORPHA:35069
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Dysphagia, Choreoathetosis, Bilateral s... OMIM:619422
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Pick Disease Of Brain
Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor... OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Small for gestational age, Failure to thrive in infancy... OMIM:614104
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Cupped ear, Low-set ears OMIM:615560
Romano-Ward Syndrome
Abnormal autonomic nervous system physiology, Hearing impairment ORPHA:101016
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:215150
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Impaired dista... ORPHA:99027
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Brain atrophy, Low-se... OMIM:619092
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a... ORPHA:275864
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... ORPHA:206443
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:612069
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:3019
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Inability to walk, Cerebral atrophy, Choreoathetosis, Bruxism, Conductive hearing impai... OMIM:618497
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Sensorineural hearing impairment, Aganglionic megacolon ORPHA:2155
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Cerebral atrophy, Dysphagia, Agitation, Br... OMIM:617435
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... OMIM:616331
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Low-set ears OMIM:618672
Tetanus
Fever, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Dysphagia ORPHA:3299
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, ... ORPHA:382
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Sensorineural hearing impairment, Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... OMIM:616881
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment OMIM:619473
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Bruxism, Protruding... OMIM:618342
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Torticollis ORPHA:71518
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping OMIM:300624
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology, Hypothermia ORPHA:168593
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy, Cerebral c... OMIM:609924
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Hypsarrhythmia, Athetosis, EEG abnormality, Dystonia, Recurrent hand flapping OMIM:618141
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Cerebral atrophy, Dystonia, Neuronal loss in central nervous system OMIM:615924
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Hypothermia OMIM:614498
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Sensorineural hearing impairment, Short-segment aganglionic megacolon OMIM:619465
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment OMIM:617976
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Postural hypotension with compensato... OMIM:256800
Fatal Familial Insomnia
Fever, Abnormal autonomic nervous system physiology, Dysphagia OMIM:600072
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
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
Xq28 (MECP2) duplication
Inability to walk, Macrotia, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive manne... DECIPHER:45
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Recurrent hand flapping, Agitation, Abnormal autonomic nervous system physiology, Bruxism OMIM:617903
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Low-set ears OMIM:616910
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:2213
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Pulmonary Blastoma
Weight loss ORPHA:64741
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Haddad Syndrome
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... ORPHA:99803
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment ORPHA:207
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
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Intestinal Dysmotility Syndrome
Failure to thrive, Low-set ears, Weight loss OMIM:620045
Otofaciocervical Syndrome
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... ORPHA:2792
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia ORPHA:921
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... ORPHA:79113
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormal antihelix morphology ORPHA:3145
Acrofrontofacionasal Dysostosis 1
Mixed hearing impairment, Optic atrophy OMIM:201180
Tick-Borne Encephalitis
Facial palsy, Anorexia, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal ner... ORPHA:297
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Holoprosencephaly, Synotia, Narrow internal auditory canal, Ab... ORPHA:990
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Cerebral atrophy, Self-injurious behavior, Compulsive behaviors, Dystonia, Ab... OMIM:618917
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Abnormal autonomic nervous system physiology, Decreased distal sensory nerv... OMIM:614575
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Weight loss, Slender build, Hearing impairment OMIM:613662
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Weight loss, Progressive cerebellar ataxia ORPHA:248111
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Cryptorchidism, Compuls... ORPHA:352490
Multiple System Atrophy, Cerebellar Type
Neuromuscular dysphagia, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct... ORPHA:227510
Non-Functioning Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Paroxysmal vertigo ORPHA:94080
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Macrotia, Chorea, Failur... OMIM:617864
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Weight loss, Addictive alcohol... ORPHA:399
Cleft Velum
Recurrent otitis media, Conductive hearing impairment ORPHA:99772
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:300946
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Optic... OMIM:617302
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation, Aganglionic megacolon, Posteriorly rotated ears, Abnormal ... OMIM:209880
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Baker-Gordon Syndrome
Choreoathetosis, Self-injurious behavior, EEG abnormality, Dystonia, Abnormal repetitive mannerisms OMIM:618218
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:93262
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Loss of ambulation, Weight loss, Difficulty walking, Impaired orophary... ORPHA:98897
Melkersson-Rosenthal Syndrome
Fever, Abnormal autonomic nervous system physiology, Facial palsy ORPHA:2483
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Inability to walk, Multifocal epileptiform discharges, Hypsarrhythmia, Large... ORPHA:411986
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic nerve hypoplasia ORPHA:79345
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Abnormal repetitive mannerisms, Self hugging, Increased b... OMIM:182290
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... ORPHA:87
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Abnormal auditory evoked potentials OMIM:109120
Multiple System Atrophy
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:102
Amyloidosis, Hereditary, Transthyretin-Related
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... OMIM:105210
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Cachexia ORPHA:1144
Madras Motor Neuron Disease
Sensorineural hearing impairment, Optic atrophy, Facial palsy, Tinnitus ORPHA:137867
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Diencephalic Syndrome
Macrotia, Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Sensorineura... ORPHA:581
Foxg1 Syndrome
Inability to walk, Bruxism, Choreoathetosis, Difficulty walking, Decreased body weight, Abnormal ... ORPHA:561854
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Cerebral atrophy OMIM:274270
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal autonomic nervous system physi... ORPHA:300570
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Tuberculosis
Weight loss ORPHA:3389
Multiple System Atrophy, Parkinsonian Type
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:98933
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Abnormal cranial nerve morphology, Abnormal autonomic nervous s... ORPHA:247234
Laryngeal Neuroendocrine Tumor
Weight loss, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Limb ataxia, Difficulty walking, Dysphagia, Jerky head movements, Spastic gait ORPHA:251282
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hearing impairment, Abnormal autonomic nervous system physiology, Abnormal helix morphology, Brux... ORPHA:453499
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Overweight, Tremor, Gait disturbance, Macrotia, Abnormal repetitive ma... ORPHA:457240
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention defi... ORPHA:216866
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Self-injurious behavior, Dystonia, Macro... OMIM:618004
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Ataxia, Tremor, Obesity, Bruxism, Choreoathetosis, Shuffling gait, ... OMIM:300055
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology, Aggressive behavior OMIM:300894
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation, Macrotia OMIM:300558
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Low-set ea... ORPHA:314585
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Facial palsy, Optic disc coloboma, Severe sensorineural hearing impairm... OMIM:620186
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... OMIM:608049
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Small for gestational age, Aggressive... OMIM:123450
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Cupped ear, Microtia, Conductive hearing impairment, Abnormali... ORPHA:246
Zechi-Ceide Syndrome
Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin... ORPHA:217017
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Dysphagia, Bilateral conductive hearing ... OMIM:617802
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Distal Deletion 10Q
Failure to thrive, Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Unst... ORPHA:96148
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Conductive hearing impairment, Mixed hearing impairment, Overfolded helix, Sensorineural hearing ... OMIM:300990
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology, Dysphagia ORPHA:363722
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Dysmetria, Hypsarrhythmia, EEG abno... OMIM:617773
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Mixed hearing impairment, Otitis media, Sensorineural hearing impairment ORPHA:309282
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Cerebral atrophy, EEG abnormality, Dys... ORPHA:500180
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Obesity... OMIM:600430
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Protruding ear, Lo... OMIM:259775
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostati... OMIM:169500
Johnson Neuroectodermal Syndrome
Facial palsy, Protruding ear, Microtia, Atresia of the external auditory canal, Conductive hearin... ORPHA:2316
Spinocerebellar Ataxia 48
Ataxia, Cachexia, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
48,Xxyy Syndrome
Ataxia, Hypergonadotropic hypogonadism, Tremor, Cryptorchidism, Obesity, Azoospermia, Infertility... ORPHA:10
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Fever, Abnormal autonomic nervous system physiology ORPHA:83601
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Hearing impairment ORPHA:457260
Shukla-Vernon Syndrome
Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A... OMIM:301029
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th... OMIM:616367
Rett Syndrome
Agitation, Abnormal repetitive mannerisms, Abnormal autonomic nervous system physiology, Stereoty... ORPHA:778
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Increased theta frequency activity in EEG, EEG with focal epileptifo... ORPHA:1929
Huntington Disease-Like 1
Abnormal head movements, Restlessness, Dysmetria, Weight loss, Gait ataxia, Gait disturbance, Jer... ORPHA:157941
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment ORPHA:3238
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Chorea, Inability to walk, Cryptorchi... OMIM:300260
Cln5 Disease
Cerebellar atrophy, Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, Atrophy/De... ORPHA:228360
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, EEG abnormality, Failure to ... OMIM:610883
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Low-set ears OMIM:618598
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Posteriorly rotated ears, Mixed hearing impairment, Peripapillary atrophy, Low-set ears ORPHA:536467
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:314652
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
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... ORPHA:206436
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Obesity, Compulsive behavio... OMIM:618430
Moynahan Syndrome
Sensorineural hearing impairment, Cachexia ORPHA:2574
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Dystonia ORPHA:280763
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Abnormality of the tympanic membrane, Abnormality of the auditory ... ORPHA:66627
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Tremor OMIM:618090
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment ORPHA:238750
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Uplifted earlobe OMIM:300143
Ramos-Arroyo Syndrome
Self-mutilation, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Bilateral s... ORPHA:1051
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Ataxia, Tremor, Cryptorchidism, Optic atr... ORPHA:90321
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex... OMIM:608257
Frontometaphyseal Dysplasia
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... ORPHA:1826
Spinocerebellar Ataxia Type 3
Abnormal vestibular function, Abnormality of temperature regulation ORPHA:98757
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Abnormal autonomic nervous system physiology, Low-s... OMIM:601559
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Self-injurious behavior, EEG abnormality OMIM:271980
Young-Onset Parkinson Disease
Restless legs, Agitation, Abnormal autonomic nervous system physiology, Impulsivity ORPHA:2828
Burn-Mckeown Syndrome
Conductive hearing impairment, Hearing impairment, Protruding ear OMIM:608572
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Hyperactivity, Brain atrophy, Aggressive behavior OMIM:615286
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Atresia of the external auditory ca... ORPHA:1488
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Wild Type Attr Amyloidosis
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... ORPHA:330001
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Asymmetry of the ears, Overweight, Bilateral cryptorchi... OMIM:617796
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... ORPHA:401777
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Oculoskeletodental Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hearing impairment ORPHA:557003
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Abnormal autonomic nervous system physiology ORPHA:282166
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Familial Cold Urticaria
Fever, Sensorineural hearing impairment, Polydipsia ORPHA:47045
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Attention de... ORPHA:391372
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Reticular Dysgenesis
Chronic otitis media, Failure to thrive, Weight loss, Hearing impairment ORPHA:33355
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Frontonasal Dysplasia 1
Conductive hearing impairment, Low-set ears OMIM:136760
Trisomy 20P
Low-set, posteriorly rotated ears, Protruding ear, Abnormal antihelix morphology, Abnormal autono... ORPHA:261318
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Large earlobe, Gait imbalance, Low-set... OMIM:619312
Acrootoocular Syndrome
Sensorineural hearing impairment, Abnormal earlobe morphology, Pseudopapilledema, Atresia of the ... ORPHA:2980
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Conductive hearing impairment, Abnormal antihelix morphology, Abnormal antitragus morphology, Apl... ORPHA:3082
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-bitin... ORPHA:3306
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction, Dysphagia ORPHA:447896
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment OMIM:601076
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t... ORPHA:320406
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... ORPHA:397612
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Sensorineural hearing impairment, Cu... ORPHA:444077
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Brain atrophy, Hearing impairment OMIM:620114
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Larsen-Like Syndrome
Conductive hearing impairment, Recurrent otitis media, Low-set ears OMIM:608545
Wolfram Syndrome
Sensorineural hearing impairment, Polydipsia, Optic atrophy, Abnormal autonomic nervous system ph... ORPHA:3463
Machado-Joseph Disease
Abnormal autonomic nervous system physiology, Dysphagia OMIM:109150
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, Corpus cal... ORPHA:168491
Nipah Virus Disease
Fever, Vertigo, Anorexia ORPHA:99825
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Cryptorchidis... OMIM:193700
Developmental And Epileptic Encephalopathy 6B
Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Choreoathetosis, Dys... OMIM:619317
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ear... ORPHA:1131
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment OMIM:135100
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... ORPHA:794
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ... OMIM:300352
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Sensorineural hearing impairment OMIM:272460
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Chorea, Athetosis, Dysphagia, Macrotia,... OMIM:619435
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... ORPHA:949
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Restlessness, Ataxia, Aggressive behavior, Multifocal epileptifo... ORPHA:369891
Erythermalgia, Primary
Abnormal autonomic nervous system physiology OMIM:133020
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Dysphagia, L... ORPHA:79264
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Hypsarrhythmia, Head tremor, Continuous spike and wave... OMIM:619428
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
Erythrokeratodermia Variabilis
Weight loss, Hearing impairment, Protruding ear ORPHA:317
Marshall-Smith Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:561
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... ORPHA:3077
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... ORPHA:363558
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
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 Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... OMIM:617751
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Gait ataxia, Brain atrophy, Low-set ears, Abnormal repetitive mannerisms... OMIM:616579
Rhyns Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:602152
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Hypothermia, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavio... ORPHA:293987
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Abnormal neuron morphology, Aggressive behavior, EEG with generalized polyspikes, ... ORPHA:163681
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Cryptorchidism, Ab... ORPHA:500159
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Macrotia, Bulimia, Self-biting, Hypsarrhythmia, Stere... OMIM:300912
Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Failure to thrive in infancy, Weight loss ORPHA:388
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Mast Cell Sarcoma
Weight loss, Hypoplasia of the ear cartilage ORPHA:66661
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Paroxysmal vertigo ORPHA:276621
Benign Recurrent Intrahepatic Cholestasis
Weight loss, Anorexia, Hearing impairment ORPHA:65682
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Nmda Receptor Encephalitis
Fever, Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, Agitation, Abnormal auto... ORPHA:217253
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Dysme... ORPHA:845
Neurooculorenal Syndrome
Mixed hearing impairment, Sensorineural hearing impairment OMIM:620305
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... ORPHA:2878
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... OMIM:617061
Alexander Disease Type I
Failure to thrive, Ataxia, Cachexia, Dysphagia ORPHA:363717
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Cerebral cortical atrophy ORPHA:85277
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... ORPHA:90024
Phaver Syndrome
Posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Low-set ears, Conductive hearing im... ORPHA:2876
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Agnathia-Otocephaly Complex
Conductive hearing impairment, Low-set ears, Synotia OMIM:202650
Crouzon Syndrome
Conductive hearing impairment, Optic atrophy, Atresia of the external auditory canal OMIM:123500
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Ataxia, Cachexia, Optic atrophy, Choreoathetosis, Gait disturbance,... ORPHA:702
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment OMIM:617516
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Obesity, Choreoathetosis, Attention deficit hyperactivity disor... ORPHA:261197
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:300958
Brachycephaly, Trichomegaly, And Developmental Delay
Conductive hearing impairment, Overfolded helix, Low-set ears OMIM:617412
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Resting tremor, Somatic sensory dysfunction, Ataxia, Abnor... ORPHA:909
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Distal Limb Deficiencies-Micrognathia Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ears ORPHA:1307
Dilated Cardiomyopathy With Ataxia
Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior, Atrophy/Degeneration affecting ... ORPHA:66634
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Low-set ears, Abnormal... OMIM:618205
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Posteriorly rotated ears, Self-injurious behavior, Compulsive behavior... OMIM:613174
Cleft Lip/Palate
Conductive hearing impairment, Recurrent otitis media ORPHA:199306
Familial Cold Autoinflammatory Syndrome 1
Fever, Recurrent fever, Hearing impairment OMIM:120100
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Posteriorly rotated ears, Ataxia, Overweight, Tremor, Inability to wa... OMIM:619229
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Alexander Disease
Facial palsy, Hypothermia, Self-injurious behavior, Abnormal autonomic nervous system physiology,... ORPHA:58
Noonan Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Aplasia of the semicircular can... ORPHA:648
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment OMIM:606943
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... OMIM:616364
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia OMIM:617281
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhythmia, Self-injurio... ORPHA:457351
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Bruxism, Protruding ear, EEG abnormality, Athetosis, Dystonia, Abnormal... OMIM:613454
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver... OMIM:618347
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia OMIM:617301
Fg Syndrome 3
Hyperactivity, Sensorineural hearing impairment OMIM:300406
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Bilateral sensorineural heari... OMIM:268315
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Attention deficit hyperactivity disorder, Dystonia, Abnormal repetitive mannerism... OMIM:619725
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology, Dysphagia OMIM:168600
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutila... OMIM:300486
Smith-Magenis Syndrome
Failure to thrive in infancy, Impaired pain sensation, Obesity, EEG abnormality, Self-injurious b... ORPHA:819
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Neurogenic bladder, Ataxia, Optic atrophy, Dysphagia, Dystonia, Macrotia, Abn... ORPHA:496641
Meningococcal Meningitis
Fever, Papilledema, Hypothermia, Anorexia, Hearing impairment ORPHA:33475
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Brain atrophy, Cerebral... OMIM:620327
Rabin-Pappas Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia OMIM:620155
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear... ORPHA:2363
Joubert Syndrome 35
Abnormality of temperature regulation, Low-set ears OMIM:618161
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Macrotia, Cachexia, Protruding ear ORPHA:2471
Waardenburg Syndrome
Conductive hearing impairment, Aganglionic megacolon, Hearing impairment ORPHA:3440
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction ORPHA:97355
Branchioskeletogenital Syndrome
Attached earlobe, Large earlobe, Mixed hearing impairment ORPHA:1299
Perry Syndrome
Akinesia, Weight loss, Inappropriate behavior, Disinhibition, Short stepped shuffling gait OMIM:168605
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Progressive hearing impairment, ... ORPHA:43
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Dystonia ORPHA:438216
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention deficit hyperactivity di... OMIM:619121
Kbg Syndrome
Macrotia, Bilateral conductive hearing impairment ORPHA:2332
Progressive Supranuclear Palsy-Corticobasal Syndrome
Tremor, Focal dystonia, Jerky head movements, Dysphagia ORPHA:240103
Robinow Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Low-set ears ORPHA:97360
Asparagine Synthetase Deficiency
Caudate atrophy, Failure to thrive, Exaggerated startle response, Optic nerve hypoplasia, Tremor,... OMIM:615574
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity OMIM:609727
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia, Cachexia ORPHA:1933
Baller-Gerold Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Optic atrophy, Low-se... OMIM:218600
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
13Q12.3 Microdeletion Syndrome
Hyperactivity, Impaired pain sensation, Chronic otitis media, Self-mutilation, Hearing impairment ORPHA:412035
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Optic nerve hypoplasia OMIM:609053
Adenylosuccinase Deficiency
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Cerebral atrophy, Opisthotonus, Inappropr... OMIM:103050
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Agitation, Abnormal autonomic nervous system physiology, Dysphagia ORPHA:94093
Charge Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Facial palsy, Hearing impairmen... ORPHA:138
Al Amyloidosis
Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto... ORPHA:85443
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Kleine-Levin Syndrome
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... ORPHA:33543
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:617877
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attent... OMIM:300986
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Athetosis, Self-mutilation ORPHA:52503
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre... OMIM:216400
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti... ORPHA:468678
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia, F... OMIM:617527
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Low-set ears, Conduct... OMIM:613309
Rett Syndrome
Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Stereotypical hand wringing OMIM:312750
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Obesity, Compulsive behaviors, Ab... OMIM:610253
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... ORPHA:2789
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:488618
Trichorhinophalangeal Syndrome Type 2
Conductive hearing impairment, Low-set, posteriorly rotated ears, Protruding ear ORPHA:502
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Macrotia, Unstea... OMIM:212066
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology, Dysphagia ORPHA:171695
Osteopathia Striata-Cranial Sclerosis Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Facial palsy, Low-set ears ORPHA:2780
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, External ear malformation, Sensorineural hearing impairment, Low-s... ORPHA:254346
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cachexia, Sensorineural hearing impairment, Weight los... ORPHA:298
Trisomy 10P
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal repetitive ma... ORPHA:2479
Isotretinoin-Like Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external aud... ORPHA:2306
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal, Simple ear OMIM:602471
Alternating Hemiplegia Of Childhood
Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Abnormal autonomic nervous... ORPHA:2131
Isaacs Syndrome
Weight loss ORPHA:84142
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:231550
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Inability to walk, Low-set ears OMIM:616801
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Cockayne Syndrome B
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Ataxia... OMIM:133540
Carney-Stratakis Syndrome
Weight loss, Tinnitus, Hearing impairment, Dysphagia ORPHA:97286
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Optic disc pallor, Small for gestational age, Decreased resting energy expend... ORPHA:404454
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology ORPHA:199302
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Mandibulofacial Dysostosis, Guion-Almeida Type
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... OMIM:610536
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Cryptorchidism, Attention deficit hyperactivity disorder, Low-set ears,... OMIM:619293
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear... OMIM:616393
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Fa... OMIM:619695
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Hearing impairment OMIM:616229
Harlequin Ichthyosis
Hearing abnormality, Self-injurious behavior, Malignant hyperthermia ORPHA:457
Congenital Disorder Of Glycosylation, Type Iit
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:618885
Carpenter Syndrome 1
Abnormal pinna morphology, Sensorineural hearing impairment, Optic atrophy, Low-set ears, Conduct... OMIM:201000
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Optic atrophy, Atresia of the external auditory canal, Conducti... OMIM:601808
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:252920
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... ORPHA:208447
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Cryptorchidism, Head-banging, Low-set ears, Attention deficit hyperactivity d... OMIM:619103
Classic Hodgkin Lymphoma
Ataxia, Anorexia, Weight loss ORPHA:391
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Paroxysmal vertigo ORPHA:29072
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... ORPHA:79330
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Osteogenesis Imperfecta
Mixed hearing impairment, Progressive hearing impairment, Hearing impairment ORPHA:666
Hennekam-Beemer Syndrome
Conductive hearing impairment, Microtia, Optic atrophy, Hearing impairment ORPHA:2135
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Macrotia, Cerebral atrophy, Prominent antihelix, Inappropriate laughter, Failure to thrive, Abnor... OMIM:615802
Acute Transverse Myelitis
Fever, Orthostatic hypotension, Abnormality of temperature regulation, Abnormal autonomic nervous... ORPHA:139417
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Low-set ... ORPHA:401973
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Tongue thrusting, Unsteady gait, ... OMIM:606232
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... OMIM:617600
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Abnormal pinna morphology, Impaired pain sensation, Tics, Low-set ears, Chronic ot... ORPHA:261211
Distal Deletion 19P
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ears ORPHA:96129
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... OMIM:615656
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal autonomic nervous system physiology, Compulsive behaviors, Dysphagia ORPHA:93256
Stickler Syndrome, Type I
Conductive hearing impairment, Sensorineural hearing impairment OMIM:108300
3P25.3 Microdeletion Syndrome
Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac... ORPHA:435638
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Abnormal antihelix morphology, Large earlobe, Low-set ears ORPHA:1438
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment OMIM:608747
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra... OMIM:607485
Giant Cell Arteritis
Conductive hearing impairment, Vertigo, Optic atrophy, Hearing impairment ORPHA:397
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Porphyria Variegata
Abnormal autonomic nervous system physiology ORPHA:79473
Focal Dermal Hypoplasia
Stenosis of the external auditory canal, Mixed hearing impairment, Optic atrophy, Low-set ears OMIM:305600
Primary Ciliary Dyskinesia
Conductive hearing impairment, Recurrent otitis media, Chronic otitis media, Hearing impairment ORPHA:244
Norrie Disease
Failure to thrive, Cachexia, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Pro... ORPHA:649
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Round ear ORPHA:870
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia OMIM:171480
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropr... ORPHA:309246
Mulibrey Nanism
Cachexia ORPHA:2576
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Difficulty walking, Fail... ORPHA:905
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media OMIM:244400
47,Xyy Syndrome
Hyperactivity, Impulsivity, Hydrocephalus, Low-set ears, Attention deficit hyperactivity disorder ORPHA:8
Huntington Disease-Like 3
Abnormal head movements, Caudate atrophy, Cerebral cortical atrophy, Dystonia ORPHA:157946
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Choreoathetosis, Dystonia, Jerky head movements OMIM:245348
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media OMIM:156550
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tremor, EEG with abnormally slow frequencies, Tongue thr... ORPHA:98794
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cachexia ORPHA:2047
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Cachexia, Head titubation, Inability to walk, Tip-toe gait... ORPHA:300605
Fabry Disease
Abnormal autonomic nervous system physiology OMIM:301500
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Agitation, Abnormal repetitive mannerisms, Ataxia ORPHA:927
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Cryptorchid... ORPHA:96121
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Sensorineur... ORPHA:51608
Congenital Disorder Of Glycosylation, Type Iig
Posteriorly rotated ears, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of the ... OMIM:611209
Hereditary Late-Onset Parkinson Disease
Impulsivity, Akinesia, Weight loss, Agitation, Shuffling gait, Dysphagia, Orthostatic hypotension... ORPHA:411602
Oromandibular Dystonia
Weight loss, Dysphagia, Bruxism ORPHA:93958
Acute Monoblastic/Monocytic Leukemia
Progressive hearing impairment, Anorexia, Weight loss ORPHA:514
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Cerebral atrophy, Neurod... OMIM:610217
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Low-set ears, Abnormal repe... ORPHA:457279
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment ORPHA:2095
Gm1 Gangliosidosis
Failure to thrive, Ataxia, Unsteady gait, Optic atrophy, Weight loss, Gait disturbance, Low-set e... ORPHA:354
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, Im... OMIM:268800
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hearing impairment OMIM:252900
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears ORPHA:1297
Ogden Syndrome
Abnormal head movements, Torticollis, Cerebral atrophy, Low-set ears, Macrotia ORPHA:276432
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Atresia of the external auditory canal OMIM:106260
Renpenning Syndrome
Sensorineural hearing impairment, Macrotia, Cachexia, Round ear ORPHA:3242
Gerstmann-Straussler Disease
Aggressive behavior, Limb ataxia, Gait ataxia, Weight loss, Truncal ataxia OMIM:137440
Huntington Disease-Like 2
Weight loss OMIM:606438
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Abnormal vestibular function, Abnormality of temperature ... ORPHA:276244
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears... OMIM:619575
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Dysphagia, Protruding ear, Hypsarrhythmia, Brain atrophy, Low-set ea... ORPHA:447997
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Ear pain, Cranial nerve compression, Weight loss, Abnormal glossophary... ORPHA:221098
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Weight loss ORPHA:79242
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder, EEG with spike-wave comp... ORPHA:64280
Machado-Joseph Disease Type 1
Abnormal vestibular function, Abnormality of temperature regulation, Dysphagia ORPHA:276238
Machado-Joseph Disease Type 2
Abnormal vestibular function, Abnormality of temperature regulation, Dysphagia ORPHA:276241
2Q37 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Conductive hearing impai... ORPHA:1001
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to thrive, ... OMIM:620242
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Failure to thrive, Polydipsia, Enlarged vestibular aqueduct ORPHA:18
Kleefstra Syndrome
Aggressive behavior, Chronic otitis media, Self-mutilation, Cryptorchidism, Obesity, Self-injurio... ORPHA:261494
Sotos Syndrome
Posteriorly rotated ears, Low-set ears, Otitis media, Conductive hearing impairment, Macrotia OMIM:117550
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Progres... OMIM:186500
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing... ORPHA:79255
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Microtia, Atresia of the external auditory canal, Conductive he... OMIM:615546
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Kapur-Toriello Syndrome
Conductive hearing impairment, Low-set ears OMIM:244300
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Immunodeficiency 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:615816
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Failure to thrive, Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing... OMIM:619512
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Vertigo, Weight loss, Sensorineural hearing impairment ORPHA:3226
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Ataxia, Weight loss ORPHA:3208
Van Maldergem Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Atresia of the externa... OMIM:601390
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Crypt... OMIM:617330
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:71273
Bone Dysplasia, Lethal Holmgren Type
Hearing abnormality, Failure to thrive, Weight loss ORPHA:1842
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Sensorineural hearing impairment, Ataxia ORPHA:760
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Tics, Otitis media, Compulsive behaviors, Decreased body weight, Abnormal repetit... OMIM:619475
Pitt-Hopkins Syndrome
Cryptorchidism, Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal rep... OMIM:610954
Lateral Meningocele Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears, Abnormality of the middle ... OMIM:130720
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:90354
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cachexia, Facial diplegia, Low-set ears, Hearing impai... OMIM:618186
Immunodeficiency 27A
Anorexia, Weight loss OMIM:209950
Bainbridge-Ropers Syndrome
Failure to thrive, Posteriorly rotated ears, Inability to walk, Cryptorchidism, Self-injurious be... OMIM:615485
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Broad-based gait, Cachexia, Aggressive behavior, Obesity, Abnormal earlobe morphology ORPHA:85293
Cystinosis
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Low-set, posteriorly rotated ears, Self-injurious behavior, Severe failure to thrive, Cachexia ORPHA:371364
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Ataxia, Aggressive behavior, Optic disc coloboma, Occipital mye... OMIM:213300
X-Linked Agammaglobulinemia
Chronic otitis media, Sensorineural hearing impairment, Failure to thrive, Weight loss ORPHA:47
Otopalatodigital Syndrome, Type I
Conductive hearing impairment OMIM:311300
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Small for gestational age, Cryptorchidism, Protruding ear, Gait disturbance, A... ORPHA:464311
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia,... ORPHA:468631
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Cupped ear, Low-set ears OMIM:263750
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Posteriorly rotated ears ORPHA:2215
Oculodentodigital Dysplasia
External ear malformation, Optic atrophy, Abnormality of the ear, Conductive hearing impairment, ... ORPHA:2710
Autosomal Recessive Multiple Pterygium Syndrome
Conductive hearing impairment, Hearing abnormality, Low-set ears, Hearing impairment ORPHA:2990
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Small for gestational age, Cryptorchidism, Macrotia, Protruding... ORPHA:464306
Cerebrooculonasal Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears OMIM:605627
Acro-Renal-Ocular Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic disc coloboma, Aganglionic... ORPHA:959
Mucopolysaccharidosis Type 2
Papilledema, Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu... ORPHA:580
Secondary Short Bowel Syndrome
Aganglionic megacolon, Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Takayasu Arteritis
Anorexia, Weight loss ORPHA:3287
Larsen Syndrome
Conductive hearing impairment ORPHA:503
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Follicular Lymphoma
Weight loss ORPHA:545
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Microtia, Cupped ear, Hearing impairment OMIM:149730
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears OMIM:235510
Pgm3-Cdg
Conductive hearing impairment, Mild neurosensory hearing impairment, Chronic otitis media, Sensor... ORPHA:443811
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Cornelia De Lange Syndrome 1
Abnormal incisura morphology, Sensorineural hearing impairment, Optic disc coloboma, Optic atroph... OMIM:122470
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Abnormal vestibular function, Broad-based gait, Ataxia, Sensorineural hearing impairment, Dysmetr... OMIM:607459
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Conductive hearing impairment, Recurrent otitis media OMIM:250420
Leishmaniasis
Anorexia, Weight loss ORPHA:507
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
8P23.1 Microdeletion Syndrome
External ear malformation, Obesity, Weight loss, Low-set ears, Attention deficit hyperactivity di... ORPHA:251071
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microtia OMIM:603467
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Microtia ORPHA:314679
Duane Retraction Syndrome
External ear malformation, Sensorineural hearing impairment, Spina bifida occulta, Stenosis of th... ORPHA:233
Achondroplasia
Conductive hearing impairment, Recurrent otitis media OMIM:100800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Aggressive behavior... OMIM:614756
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Legius Syndrome
Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder, Hearing impairment ORPHA:137605
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Cerebral atrophy, Mic... OMIM:301040
Aredyld Syndrome
Low-set, posteriorly rotated ears, Abnormal tragus morphology, Cachexia ORPHA:1133
Frontorhiny
Low-set, posteriorly rotated ears, Congenital conductive hearing impairment ORPHA:391474
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Cryptorchidism, Cupped ear, O... OMIM:309590
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Posteriorly rotated ears, Congenital sensorineural hearing impairment,... OMIM:157800
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Horner syndrome, Weight loss OMIM:256700
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:476126
Focal Myositis
Weight loss ORPHA:48918
Mohr Syndrome
Conductive hearing impairment OMIM:252100
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears OMIM:618500
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Codas Syndrome
Conductive hearing impairment, Crumpled ear, Sensorineural hearing impairment OMIM:600373
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... ORPHA:513456
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Dystonia, Tremor, Optic atrophy, Phonic tics, Choreoathetosis, Blephar... OMIM:234200
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Prominent antihelix, Conductive heari... ORPHA:466943
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, EEG with focal sharp waves, Self-biting, Choreoathetosis, EEG abn... ORPHA:522077
Polymyositis
Gait disturbance, Anorexia, Weight loss ORPHA:732
Shprintzen-Goldberg Craniosynostosis Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Low-set ears OMIM:182212
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia, Posteriorly rot... OMIM:616835
Perry Syndrome
Weight loss ORPHA:178509
Acute Promyelocytic Leukemia
Vertigo, Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Stüve-Wiedemann Syndrome
Abnormal autonomic nervous system physiology, Recurrent fever ORPHA:3206
Osteopathia Striata With Cranial Sclerosis
Posteriorly rotated ears, Facial palsy, Microtia, Low-set ears, Conductive hearing impairment, Ov... OMIM:300373
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Anaplastic Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:142
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Obesity, Difficulty walking, Low-set ears, Overfolded helix, Abnormal repetitive ... OMIM:618653
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Optic atrophy, Hypothermia OMIM:618493
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Failure to thrive, Abnormal repetiti... ORPHA:319182
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Impulsivity, Cerebral atrophy, Protruding ear,... OMIM:301030
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, Obesity, EEG with ... OMIM:301066
Shprintzen-Goldberg Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears, Protruding ear ORPHA:2462
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas... OMIM:620330
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Weight loss, Agitation, Oral aversion ORPHA:134
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:2754
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Recurrent otitis media ORPHA:2502
Baller-Gerold Syndrome
Conductive hearing impairment ORPHA:1225
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia OMIM:272750
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Sensorineural hearing impairment, Weight loss, Difficulty walking, Dysphagia OMIM:164310
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:277170
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Monosomy 18Q
Sensorineural hearing impairment, Macrotia, Bilateral conductive hearing impairment ORPHA:1600
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Optic atroph... ORPHA:1606
Kinsship Syndrome
Bruxism, Brain atrophy, Low-set ears, Failure to thrive, Abnormal repetitive mannerisms OMIM:619297
Cronkhite-Canada Syndrome
Cachexia, Anorexia ORPHA:2930
Rhabdoid Tumor
Weight loss ORPHA:69077
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cryptorchi... OMIM:615873
Feingold Syndrome Type 1
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:391641
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Hypsarrhythmia, Abnormal cochlea mor... ORPHA:798
Cockayne Syndrome Type 3
Optic disc pallor, Adult onset sensorineural hearing impairment, Conductive hearing impairment, M... ORPHA:90324
Medullary Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:1332
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Cranial nerve compression, Macrotia, Optic atrophy ORPHA:2785
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal ORPHA:1393
Bosma Arhinia Microphthalmia Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Atresia of the external auditory canal,... OMIM:603457
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Sensorineural hearing impairment, Weight loss, Dysphagia, Slender build OMIM:603041
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Cerebral cortical atrophy OMIM:618201
Leukocyte Adhesion Deficiency Type Ii
Conductive hearing impairment, Small earlobe, Microtia, Recurrent otitis media ORPHA:99843
3Mc Syndrome 1
Conductive hearing impairment, Hearing impairment OMIM:257920
Eosinophilic Gastroenteritis
Weight loss, Dysphagia ORPHA:2070
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Congenital Myopathy 13
Conductive hearing impairment, Low-set ears OMIM:255995
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia ORPHA:42
Hunter-Macdonald Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:611962
Frontometaphyseal Dysplasia 2
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Low-s... OMIM:617137
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ... OMIM:154400
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears, Hypoplasia of the... OMIM:618175
Aicardi-Goutieres Syndrome 9
Failure to thrive, Optic atrophy, Self-mutilation, Weight loss OMIM:619487
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia, Protrudi... ORPHA:453504
Congenital Tufting Enteropathy
Failure to thrive, Optic disc coloboma, Weight loss ORPHA:92050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia, Protrudi... ORPHA:352665
Arboleda-Tham Syndrome
Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Bilateral cryptorchidi... OMIM:616268
Mucolipidosis Type Ii
Conductive hearing impairment, Sensorineural hearing impairment, Otitis media ORPHA:576
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Otosclerosis, Sensorineural hearing impairment, Optic atrophy, Conductive hearing im... ORPHA:217085
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Peripheral Primitive Neuroectodermal Tumor
Vertigo, Anorexia, Weight loss ORPHA:370348
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia, Hearing impairment ORPHA:217346
Short Syndrome
Sensorineural hearing impairment, Weight loss ORPHA:3163
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Treacher-Collins Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Narrow internal auditory ... ORPHA:861
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Otosclerosis, Sensorineural hearing impairment, Optic atrophy, Conductive hearing im... ORPHA:217093
Native American Myopathy
Conductive hearing impairment ORPHA:168572
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Optic atrophy, Cachexia, Hearing impairment ORPHA:220295
Multiple Pterygium Syndrome, Escobar Variant
Conductive hearing impairment, Low-set ears, Exostosis of the external auditory canal OMIM:265000
Thymic Carcinoma
Weight loss ORPHA:99868
Kabuki Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia, Protruding ear ORPHA:2322
Aggressive Systemic Mastocytosis
Anorexia, Weight loss ORPHA:98850
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Kyphoscoliotic Ehlers-Danlos Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears, Hearing impairment ORPHA:536545
Osteosarcoma
Weight loss ORPHA:668
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Anorexia, Vertigo, Weight loss, Failure to thrive ORPHA:199299
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conductive hearing impairment, Protruding ear ORPHA:1071
Silver-Russell Syndrome
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Obesity, Low-set ears ORPHA:813
Developmental And Epileptic Encephalopathy 2
EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:300672
Felty Syndrome
Chronic otitis media, Weight loss ORPHA:47612
Deeah Syndrome
Abnormality of temperature regulation, Low-set ears, Dysphagia, Self-mutilation, Hearing impairment OMIM:619004
Cap Polyposis
Weight loss ORPHA:160148
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Cryptorchidism, Sens... OMIM:619325
Oculodentodigital Dysplasia
Conductive hearing impairment, Abnormal pinna morphology OMIM:164200
Larsen Syndrome
Conductive hearing impairment, Hearing impairment OMIM:150250
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Bilateral conductive hearing impairment, Hearing impairment ORPHA:488642
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Bullous Pemphigoid
Weight loss ORPHA:703
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Sensorineural hearing impairment, Failure to thrive, Dysphagia ORPHA:1018
Leprosy
Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology ORPHA:548
Trisomy 8P
Conductive hearing impairment, Abnormal middle ear morphology, Posteriorly rotated ears, Aplasia/... ORPHA:264450
Liposarcoma
Weight loss ORPHA:69078
17Q24.2 Microdeletion Syndrome
Progressive conductive hearing impairment, Otosclerosis, Microtia, Recurrent otitis media ORPHA:529962
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Kaposi Sarcoma
Weight loss ORPHA:33276
Chronic Beryllium Disease
Weight loss ORPHA:133
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Gait disturbance, Dysphagia ORPHA:183
Osteootohepatoenteric Syndrome
Weight loss, Failure to thrive, Hearing impairment OMIM:619377
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Down Syndrome
Conductive hearing impairment, Microtia, Aganglionic megacolon OMIM:190685
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Marshall-Smith Syndrome
Optic nerve hypoplasia, Bilateral conductive hearing impairment, Low-set ears, Overfolded helix, ... OMIM:602535
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... ORPHA:508498
Treacher Collins Syndrome 1
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:154500
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Lynch Syndrome
Gait disturbance, Attention deficit hyperactivity disorder, Weight loss ORPHA:144
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Lo... ORPHA:369837
Hennekam Syndrome
Conductive hearing impairment, External ear malformation, Low-set ears ORPHA:2136
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Faundes-Banka Syndrome
Cupped ear, Microtia, Long ear, Low-set ears, Conductive hearing impairment OMIM:619376
Acute Adrenal Insufficiency
Orthostatic hypotension, Salt craving, Anorexia, Vertigo, Weight loss, Failure to thrive ORPHA:95409
Hajdu-Cheney Syndrome
Conductive hearing impairment, Large earlobe, Low-set ears OMIM:102500
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Sensorineural hearing impairment, Cachexia ORPHA:3217
Beta-Thalassemia
Abnormality of temperature regulation ORPHA:848
Neuroendocrine Tumor Of The Colon
Anorexia, Weight loss ORPHA:100080
Polycythemia Vera
Vertigo, Tinnitus, Weight loss ORPHA:729
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Optic atrophy, Overfolded helix, Low-set ears, Conductive hearing impairme... ORPHA:567
Polyarteritis Nodosa
Weight loss ORPHA:767
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of temperature regulation, Otitis media, Hearing impairment ORPHA:667
Whipple Disease
Cachexia, Polydipsia, Ataxia, Anorexia ORPHA:3452
Familial Colorectal Cancer Type X
Gait disturbance, Attention deficit hyperactivity disorder, Weight loss ORPHA:440437
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal pinna morphology, Abnormal earlobe morphology, Abnormal antihelix morphology, Low-set ea... ORPHA:95699
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Cerebral atrophy, Choreoathetosis, Brain atrophy, Dysphagia, A... OMIM:619777
Camurati-Engelmann Disease
Waddling gait, Ataxia, Facial palsy, Anorexia, Cachexia, Optic atrophy, Optic nerve compression, ... ORPHA:1328
Craniosynostosis And Dental Anomalies
Papilledema, Stapes ankylosis, Absent malleus, Conductive hearing impairment, Chronic otitis media OMIM:614188
Lathosterolosis
Conductive hearing impairment OMIM:607330
Xfe Progeroid Syndrome
Failure to thrive, Optic atrophy, Cachexia, Hearing impairment OMIM:610965
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Tetrasomy 12P
Cachexia ORPHA:884
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Ataxia, Hypergonadotropic hypogonadism, A... OMIM:259050
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:306542
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se... ORPHA:642
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Orofaciodigital Syndrome Type 4
Microtia, third degree, Posteriorly rotated ears, Abnormality of the ear, Low-set ears, Conductiv... ORPHA:2753
Pycnodysostosis
Mild conductive hearing impairment ORPHA:763
Acrodermatitis Enteropathica
Failure to thrive, Anorexia, Weight loss ORPHA:37
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Floating-Harbor Syndrome
Restlessness, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsive behaviors, Low-... ORPHA:2044
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Conductive hearing impairment, Overfolded helix, Uplifted earlobe OMIM:280000
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Sensorineu... OMIM:607872
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Familial Glucocorticoid Deficiency
Failure to thrive, Anorexia, Weight loss ORPHA:361
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia OMIM:175500
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Compulsive behaviors, Attention deficit hyperactivity dis... ORPHA:177907
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Failure to thrive, Ataxia, Hearing impairment ORPHA:99885
Riddle Syndrome
Gait disturbance, Ataxia, Otitis media, Weight loss ORPHA:420741
Neuroendocrine Tumor Of The Rectum
Anorexia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Weight loss ORPHA:100082
Bronchial Neuroendocrine Tumor
Anorexia, Weight loss ORPHA:97287
Cardiac-Valvular Ehlers-Danlos Syndrome
Severe conductive hearing impairment ORPHA:230851
Yao Syndrome
Weight loss OMIM:617321
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:212750
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Anorexia, Weight loss ORPHA:20
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
EEG abnormality, Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity... OMIM:619005
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage ORPHA:3042
Nephroblastoma
Weight loss ORPHA:654
Pemphigus Vulgaris
Weight loss ORPHA:704
Niemann-Pick Disease, Type C2
Dystonia, Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:117650
Branchiooculofacial Syndrome
Posteriorly rotated ears, Facial palsy, Sensorineural hearing impairment, Fusion of middle ear os... OMIM:113620
Seckel Syndrome
Abnormal earlobe morphology, Absent earlobe, Cachexia ORPHA:808
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Cryptorchidism, Hydrocele testis, Microti... OMIM:619522
Loeffler Endocarditis
Weight loss ORPHA:75566
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Cryptorchidism, Protruding ear, EEG abnormality, Self-injuriou... ORPHA:534
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Igg4-Related Aortitis
Weight loss ORPHA:449400
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Small for gestational age, Cryptorchidism, Sensorineural hearing impai... OMIM:194190
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Fraser Syndrome 1
Abnormal pinna morphology, Cupped ear, Atresia of the external auditory canal, Low-set ears, Cond... OMIM:219000
Campomelic Dysplasia
Conductive hearing impairment, Low-set ears, Hearing impairment OMIM:114290
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cerebral cortical atrophy ORPHA:309155
Rheumatoid Arthritis
Weight loss OMIM:180300
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... OMIM:301044
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Weight loss ORPHA:100085
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Sensorineural hearing impairment, Protruding ear, Truncal obesity, Self-injurious behavio... OMIM:612474
Turnpenny-Fry Syndrome
Conductive hearing impairment, Satyr ear, Microtia, Low-set ears OMIM:618371
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Distal Deletion 12Q
Prominent ear helix, Microtia, Bilateral conductive hearing impairment, Low-set ears ORPHA:96149
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Poems Syndrome
Papilledema, Weight loss ORPHA:2905
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Wolman Disease
Cachexia ORPHA:75233
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Protruding ear ORPHA:2751
Addison Disease
Orthostatic hypotension, Salt craving, Anorexia, Vertigo, Weight loss, Failure to thrive ORPHA:85138
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Ogden Syndrome
Torticollis, Cryptorchidism, Cerebral atrophy, Protruding ear, Hydrocele testis, Low-set ears, Dy... OMIM:300855
Malignant Atrophic Papulosis
Vertigo, Weight loss ORPHA:679
Erdheim-Chester Disease
Polydipsia, Ataxia, Weight loss ORPHA:35687
Refractory Celiac Disease
Weight loss ORPHA:398063
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia, Broad-based gait, Inability to walk, C... ORPHA:438213
Gallbladder Neuroendocrine Tumor
Anorexia, Weight loss ORPHA:100086
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Alveolar Echinococcosis
Vertigo, Ataxia, Weight loss ORPHA:284
Pneumocystosis
Weight loss ORPHA:723
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Familial Thrombocytosis
Vertigo, Weight loss ORPHA:71493
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Exaggerated startle response, Testicular dysgenesis OMIM:608800
Schwartz-Jampel Syndrome
Low-set, posteriorly rotated ears, Cachexia, Gait disturbance, Attention deficit hyperactivity di... ORPHA:800
Behçet Disease
Ataxia, Anorexia, Vertigo, Weight loss, Gait disturbance ORPHA:117
Granulomatosis With Polyangiitis
Chronic otitis media, Weight loss OMIM:608710
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Fontaine Progeroid Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:612289
Floating-Harbor Syndrome
Conductive hearing impairment, Recurrent otitis media, Posteriorly rotated ears, Low-set ears OMIM:136140
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Conductive hearing impairment, Microtia OMIM:129900
Fraser Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Atresia of the external auditory ca... ORPHA:2052
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Peters Plus Syndrome
Conductive hearing impairment, Microtia, second degree, Optic atrophy, Low-set, posteriorly rotat... ORPHA:709
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Neuroendocrine Tumor Of Stomach
Anorexia, Weight loss ORPHA:100075
Degcags Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Unilateral conductive hearing impairm... OMIM:619488
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Cachexia, Sensorineural hearing impairment, Limb ataxia, Abnormal ... ORPHA:2072
Hutchinson-Gilford Progeria Syndrome
Conductive hearing impairment, Prominent ear helix, Low-frequency sensorineural hearing impairmen... ORPHA:740
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Atresia of the external audi... ORPHA:199
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Toxic Epidermal Necrolysis
Polydipsia, Weight loss, Dysphagia ORPHA:537
Familial Pancreatic Carcinoma
Anorexia, Weight loss ORPHA:1333
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Pseudoaminopterin Syndrome
Hypoplasia of the antihelix, Mild conductive hearing impairment, Absent earlobe, Low-set, posteri... ORPHA:221120
Nijmegen Breakage Syndrome
Hearing abnormality, Cachexia, Macrotia, Attention deficit hyperactivity disorder ORPHA:647
Caroli Disease
Anorexia, Weight loss ORPHA:53035
Mowat-Wilson Syndrome
Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Impaired pai... ORPHA:2152
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:508533
Budd-Chiari Syndrome
Weight loss ORPHA:131
Juvenile Dermatomyositis
Weight loss, Dysphagia ORPHA:93672
Bannayan-Riley-Ruvalcaba Syndrome
Macrotia, Cachexia ORPHA:109
Q Fever
Anorexia, Weight loss ORPHA:781
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Weight loss ORPHA:49041
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Optic disc pallor, Ataxia, Cachexia, Decreased n... ORPHA:191
Thymoma
Weight loss ORPHA:99867
Hermansky-Pudlak Syndrome
Anorexia, Weight loss ORPHA:79430
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Trisomy 18
Low-set, posteriorly rotated ears, Pointed helix, Cachexia ORPHA:3380
Cystic Echinococcosis
Weight loss ORPHA:400
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Thyrotoxic Periodic Paralysis
Obesity, Abnormality of peripheral nerve conduction, Weight loss ORPHA:79102
Klatskin Tumor
Weight loss ORPHA:99978
Stevens-Johnson Syndrome
Weight loss, Dysphagia ORPHA:36426
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai... ORPHA:261537
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Macrotia, Aganglionic megacolon, Abnormality of temperature regulation, Heat intolerance ORPHA:2273
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Anorexia ORPHA:1969
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Brucellosis
Small for gestational age, Anorexia, Abnormality of the peripheral nervous system, Weight loss, F... ORPHA:1304
Granulomatosis With Polyangiitis
Chronic otitis media, Sensorineural hearing impairment, Otitis media, Weight loss ORPHA:900
Postinfectious Vasculitis
Weight loss, Anorexia, Abnormality of the peripheral nervous system ORPHA:48435
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
African Trypanosomiasis
Papilledema, Akinesia, Aggressive behavior, Weight loss, Choreoathetosis, Gait disturbance, Diffi... ORPHA:3385
Fanconi Anemia
Aganglionic megacolon, External ear malformation, Hearing abnormality, Weight loss, Hearing impai... ORPHA:84
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai... ORPHA:261552
Microsporidiosis
Cachexia, Anorexia, Weight loss ORPHA:2552
Sotos Syndrome
Aganglionic megacolon, Conductive hearing impairment, Chronic otitis media, Cholesteatoma, Hearin... ORPHA:821
Parathyroid Carcinoma
Polydipsia, Weight loss, Dysphagia ORPHA:143
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Anorexia, Weight loss OMIM:181000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Dysphagia, EEG with generalized slow activity OMIM:618367
Otopalatodigital Syndrome, Type Ii
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:304120
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive, Dysphagia ORPHA:2020
Ppoma
Anorexia, Weight loss ORPHA:97278
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Cholesteatoma, Anorexia, Weight loss OMIM:619381
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cystinosis, Nephropathic
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia OMIM:219800
Craniofacial Microsomia 1
Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditory canal, Condu... OMIM:164210
Juvenile Polyposis Of Infancy
Cachexia, Low-set ears ORPHA:79076
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Conductive hearing impairment, Low-set ears, Simple ear OMIM:201750
Somatostatinoma
Anorexia, Weight loss ORPHA:97283
Grfoma
Anorexia, Weight loss ORPHA:97261
Vipoma
Anorexia, Weight loss ORPHA:97282
Kikuchi-Fujimoto Disease
Ataxia, Anorexia, Weight loss ORPHA:50918
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Multiple Endocrine Neoplasia Type 1
Cranial nerve compression, Anorexia, Weight loss ORPHA:652
Glucagonoma
Anorexia, Weight loss ORPHA:97280
Tsh-Secreting Pituitary Adenoma
Vertigo, Weight loss ORPHA:91347
Castleman Disease
Weight loss ORPHA:160
Pancreatoblastoma
Weight loss ORPHA:677
Pyomyositis
Weight loss ORPHA:764
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Weight loss ORPHA:79078
Nocardiosis
Anorexia, Weight loss ORPHA:31204
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Immunodeficiency 31C
Weight loss OMIM:614162
Tropical Pancreatitis
Weight loss ORPHA:103918
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Multiple Myeloma
Weight loss ORPHA:29073
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Anorexia, Weight loss ORPHA:91500
Stickler Syndrome
Cachexia, Sensorineural hearing impairment, Chronic otitis media, Slender build, Hearing impairment ORPHA:828
Rat-Bite Fever
Weight loss ORPHA:31205
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Reactive Arthritis
Weight loss ORPHA:29207
Malt Lymphoma
Weight loss ORPHA:52417
Marfan Syndrome
Cachexia, Slender build, Attention deficit hyperactivity disorder ORPHA:558
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Proteus Syndrome
Cachexia, Macrotia, Low-set ears, Narrow internal auditory canal ORPHA:744
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Chronic Graft Versus Host Disease
Weight loss, Anorexia, Dysphagia ORPHA:99921
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Dermatomyositis
Weight loss ORPHA:221
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Sarcoidosis
Facial palsy, Weight loss ORPHA:797
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Goodpasture Syndrome
Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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 Pou4f3

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 Pou4f3.

No publications found that use IMPC mice or data for Pou4f3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pou4f3tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pou4f3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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