Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gap junction protein, beta 6
Synonyms:
Cx30,  D14Bwg0506e,  connexin 30

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gjb6 mutations

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

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

The table below shows human diseases predicted to be associated to Gjb6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
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 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment, Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction OMIM:600060
Deafness, Autosomal Dominant 11
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Vestibular dysfunction OMIM:600974
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment, Hand tremor OMIM:300905
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction OMIM:607821
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
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 Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
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 Recessive 113
Sensorineural hearing impairment OMIM:618410
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
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
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 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal 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 Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
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 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
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
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Anonychia With Flexural Pigmentation
Alopecia of scalp, Hyperkeratosis, Abnormal hair morphology, Follicular hyperkeratosis ORPHA:69125
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Sensorineural hearing impairment, Hearing impairment OMIM:310490
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:615522
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Moynahan Syndrome
Sensorineural hearing impairment, Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Nail dystrophy ORPHA:79503
Angioma Serpiginosum, X-Linked
Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy OMIM:300652
Parana Hard Skin Syndrome
Generalized hirsutism, Hyperkeratosis, Thickened skin ORPHA:2812
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Ichthyosis, Hystrix-Like, With Deafness
Sensorineural hearing impairment, Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplant... OMIM:602540
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Generalized hypotrichosis, Absent pubic hair, Sparse pubic... ORPHA:189
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Brittle hair, Tiger tail banding, Follicular hy... OMIM:618546
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Keratoderma Hereditarium Mutilans
Sensorineural hearing impairment, Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis... ORPHA:494
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Sensorineural hearing impairment, Hearing impairment, Profound sensorineural hearing impairment, ... OMIM:619196
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... OMIM:616648
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Leukonychia, Mixed hearing impairment, Palmoplantar ... ORPHA:2698
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy OMIM:618741
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex... OMIM:601952
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Keratoderma Hereditarium Mutilans With Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Alopecia, Palmoplantar hyperker... ORPHA:79395
Cardiomyopathy, Dilated, 1J
Sensorineural hearing impairment, Abnormal left ventricular function, Sudden cardiac death, Dilat... OMIM:605362
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Wolfram-Like Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... OMIM:614296
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Cerebellar atrophy OMIM:117210
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Nail dystrophy OMIM:212360
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Deafness, Autosomal Dominant 41
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment OMIM:608224
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Protruding ear, Absent eyebrow, Supernumerary nipple, Sparse body hair, Follic... ORPHA:1809
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment OMIM:620009
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Ichthyosis, Congenital, Autosomal Recessive 10
Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, ... OMIM:615024
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Progressive sensorineural hearing impairment, Alopecia OMIM:136300
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Palmopla... OMIM:300918
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Follicular hyperkeratosis, Macrotia, Palmoplantar keratoderma, Congenital bullous ic... OMIM:613576
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:617525
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Tremor, Decreased nerve conduction velocity, Adult onset sensor... ORPHA:1368
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment ORPHA:1383
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment ORPHA:1490
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Erythrokeratodermia Variabilis
Protruding ear, Generalized hirsutism, Alopecia, Patchy palmoplantar hyperkeratosis, Hyperkeratos... ORPHA:317
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment OMIM:268010
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Hypergranulosis, Palmoplantar hyperkeratosis, Nail dystrophy, Palmoplantar keratode... OMIM:148700
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Hyperkeratosis, Absent eyelashes, Recurrent otitis media, Nail dystr... OMIM:618625
Ramon Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Generalized hirsutism, Hyperkera... ORPHA:3019
Usher Syndrome Type 1
Sensorineural hearing impairment, Cerebral cortical atrophy, Vestibular hypofunction, Abnormal co... ORPHA:231169
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Thickened skin OMIM:247100
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Dystrophic toenail, Palmoplantar hyperkeratosis ORPHA:89838
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Perioral hyperkerato... OMIM:619208
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Conjunctival telangiectasia, Head tremor, Optic atrophy, Cochlear degene... ORPHA:95433
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:1171
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment OMIM:608653
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Abcd Syndrome
Albinism, White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Total intestinal a... OMIM:600501
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Sparse hair, Brittle hair, Coarse hair, Hyperkeratosis ORPHA:1883
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment OMIM:613076
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Porokeratosis 3, Multiple Types
Nail dystrophy, Porokeratosis, Parakeratosis OMIM:175900
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Hypotrichosis 6
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis OMIM:607903
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking OMIM:619191
Peeling Skin Syndrome 4
Orthokeratosis, Ichthyosis, Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma OMIM:607936
Palmoplantar Keratoderma And Congenital Alopecia 1
Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Plantar hyperkeratosis, Epiderm... OMIM:104100
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Brittle hair, Patchy alopecia, Follicular hyperkeratosi... ORPHA:573
Peroxisome Biogenesis Disorder 7B
Sensorineural hearing impairment OMIM:614873
Monilethrix
Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Perifollicular hyperkeratosis, ... OMIM:158000
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... OMIM:601596
Epidermolytic Palmoplantar Keratoderma
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Epiderma... ORPHA:2199
Siddiqi Syndrome
Sensorineural hearing impairment, Limb dystonia OMIM:618635
Acrokeratosis Verruciformis Of Hopf
Leukonychia, Hyperkeratosis, Nail dystrophy, Punctate palmoplantar hyperkeratosis, Hypergranulosis ORPHA:79151
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment OMIM:600193
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Vestibular dysfunction OMIM:276902
Huntington Disease-Like 2
Apathy, Bradykinesia, Depression, Anxiety, Irritability OMIM:606438
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Nail dystrophy OMIM:616029
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Hyperkeratosis, Fine hair, Slow-growing scalp hair, Parakeratosis, Alopecia of... ORPHA:90368
Ulerythema Ophryogenesis
Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis ORPHA:3406
Lowe-Kohn-Cohen Syndrome
Sensorineural hearing impairment ORPHA:2408
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Palmoplantar hyperkerato... OMIM:242300
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Hyperkeratosis, Ichthyosis, Nail dystrophy, Palmoplantar keratoderma, P... OMIM:615821
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Brittle hair, Hyperkeratosis, Fine hair ORPHA:1573
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor ORPHA:66633
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Congenital sensorineural hearing impairment, Sudden cardiac death, Prolonged ... OMIM:220400
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis OMIM:604117
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Circumungual hyperke... ORPHA:2200
Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Ichthyosis ORPHA:461
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis ORPHA:498359
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Congen... OMIM:602400
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Hyperkeratosis, Nail dystrophy, Hypoplastic sweat glands OMIM:617337
Olmsted Syndrome 1
Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Palmoplantar keratod... OMIM:614594
Bazex Syndrome
Yellow nails, Acanthosis nigricans, Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Par... ORPHA:166113
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia OMIM:616042
Charcot-Marie-Tooth Disease, Type 4K
Sensorineural hearing impairment, Hearing impairment, Dystonia OMIM:616684
Leopard Syndrome 3
Sensorineural hearing impairment, Hyperkeratosis, Curly hair, Epidermal hyperkeratosis, Low-set e... OMIM:613707
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Palmar hyperkeratosis, Alopecia, Plantar hyperkeratosis, Nail dystrophy, Hyperkeratotic papule ORPHA:79397
Bathing Suit Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Palmoplantar hyperkerato... ORPHA:100976
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment ORPHA:1144
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:617571
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... ORPHA:100084
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Deafness, Dystonia, And Cerebral Hypomyelination
Sensorineural hearing impairment, Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Dystonia OMIM:300475
Acquired Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis ORPHA:454
Pityriasis Rubra Pilaris
Orthokeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized hyperkeratosis, Absen... ORPHA:2269
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Brittle scalp hair, Brittle hair, Follicular hyperkeratosis OMIM:262020
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Nail dystrophy, Follicular hyperkeratosis OMIM:167200
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment OMIM:605594
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital nonbullous ichthyosiform erythroderma, Congenital ichthyosiform erythroderma, Alopecia... OMIM:242100
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy ORPHA:89843
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma ORPHA:312
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis OMIM:615907
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Sensorineural hearing impairment, Follicular hyperkeratosis ORPHA:300179
Pendred Syndrome
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... ORPHA:705
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617992
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... OMIM:612347
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse axillary hair, Sparse eyelash... OMIM:613102
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Lamellar Ichthyosis
Abnormal helix morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Chronic otitis media, ... ORPHA:313
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Sensorineural hearing impairment, Aganglionic megacolon ORPHA:2155
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Sensorineural hearing impairment, Pulmonic stenosis OMIM:264140
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:601812
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Cerebral atrophy, Brain atrophy, Optic disc pallor, Abnormal au... OMIM:619260
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Hyperkeratosis, Leukonychia OMIM:616295
Histidinuria-Renal Tubular Defect Syndrome
Sensorineural hearing impairment, Histidinuria, Cerebral cortical atrophy, Macrotia ORPHA:2158
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Vertigo, Hearing impairment, Hyperkeratosis ORPHA:79279
Congenital Disorder Of Glycosylation, Type Iq
Hypertrichosis, Optic atrophy, Hyperkeratosis, Ichthyosis, Low-set ears OMIM:612379
Ichthyosis, Congenital, Autosomal Recessive 6
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Palmoplantar ke... OMIM:612281
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Sensorineural hearing impairment, Short-segment aganglionic megacolon OMIM:619465
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Sparse hair, Hyperkeratosis, Fine hair, Hearing impairment ORPHA:1806
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Sparse hair, Alopecia, Sparse eyelashes, Ichthyosis, Thick hair, Parakeratosis OMIM:607626
Hereditary Mucoepithelial Dysplasia
Fine hair, Hyperkeratosis, Sparse hair, Alopecia ORPHA:1839
Classic Mycosis Fungoides
Hyperkeratosis, Alopecia ORPHA:2584
Darier Disease
Acrokeratosis, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Abnormal hair morpho... ORPHA:218
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials, He... ORPHA:36386
Histidinuria Due To A Renal Tubular Defect
Sensorineural hearing impairment, Histidinuria, Macrotia OMIM:235830
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Sensorineural hearing impairment, Acanthosis nigricans, Optic disc pallor, Hyperkeratosis, Ichthy... OMIM:618527
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Perrault Syndrome 3
Sensorineural hearing impairment, Congenital sensorineural hearing impairment OMIM:614129
Atrophoderma Vermiculata
Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Björnstad Syndrome
Sensorineural hearing impairment ORPHA:123
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Optic atrophy, Intention tremor, Vestibular areflexia ORPHA:504476
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... ORPHA:52429
Stickler Syndrome, Type V
Sensorineural hearing impairment OMIM:614284
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... ORPHA:99027
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Ichthyosis, Congenital, Autosomal Recessive 9
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Hypergranulosis OMIM:615023
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Sparse eyebrow, Sparse eyelashes, Trichiasis, Absent pubic hair... OMIM:148210
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Prol... ORPHA:206443
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Sparse eyelashes, Alopecia, Ichthyosis, Hyperkeratosis, Hypsarrhythmia OMIM:610768
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichth... OMIM:606545
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Testicular seminoma, Ichthyosis ORPHA:281090
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... ORPHA:101085
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Sparse eyelashes, Follicular hyperkeratosis, Nail dystrophy, Dystrophic fingernai... OMIM:308800
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis OMIM:608649
Harlequin Ichthyosis
Hearing abnormality, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma ORPHA:457
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Prolidase Deficiency
Hirsutism, Generalized hirsutism, Abnormality of the middle ear, Low anterior hairline, Hyperkera... ORPHA:742
Pachyonychia Congenita
Palmar hyperkeratosis, Alopecia, Linear arrays of macular hyperkeratoses in flexural areas, Folli... ORPHA:2309
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Sparse hair, Acantholysis, Palmoplantar keratoderma, Hypergranulosis OMIM:615508
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Abnormal helix morphology, Sparse hair, Alopecia, Low-set, posteri... ORPHA:1005
Lichen Planopilaris
Hyperkeratosis, Alopecia ORPHA:525
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Sjögren-Larsson Syndrome
Ichthyosis, Hyperkeratosis ORPHA:816
Psoriasis 2
Hyperkeratosis, Parakeratosis OMIM:602723
Paragangliomas 1
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... OMIM:168000
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Follicular hyperkeratosis OMIM:615225
Proteus Syndrome
Hyperkeratosis OMIM:176920
Sialidosis Type 1
Sensorineural hearing impairment, Hyperkeratosis, Decreased nerve conduction velocity, EEG abnorm... ORPHA:812
Noonan Syndrome 8
Low-set ears, Hyperkeratosis, Curly hair, Cryptorchidism OMIM:615355
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
Heimler Syndrome 1
Sensorineural hearing impairment OMIM:234580
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Sensorineural hearing impairment, Cerebral atrophy, Decreased sensory nerve conduction velocity, ... OMIM:616192
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... OMIM:609136
Paragangliomas 3
Glomus jugular tumor, Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Ad... OMIM:605373
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Hyperkeratosis ORPHA:2611
Netherton Syndrome
Sparse scalp hair, Congenital nonbullous ichthyosiform erythroderma, Brittle hair, Sparse eyebrow... OMIM:256500
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Tachycardia OMIM:221400
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Vestibular dysfunction OMIM:606943
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Parak... OMIM:604777
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Alopecia of scalp ORPHA:530
Trichothiodystrophy 1, Photosensitive
Pili torti, Protruding ear, Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Brittl... OMIM:601675
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Optic atrophy, Diffuse cerebral atrophy, Heari... ORPHA:206436
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Donohue Syndrome
Hypertrichosis, Ovarian cyst, Acanthosis nigricans, Hyperkeratosis, Macrotia, Low-set ears OMIM:246200
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Fine hair ORPHA:1028
Irida Syndrome
Ichthyosis, Hyperkeratosis ORPHA:209981
Naxos Disease
Woolly hair, Sparse eyebrow, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Subungual hyp... OMIM:601214
Odontoonychodermal Dysplasia
Sparse scalp hair, Orthokeratosis, Sparse eyebrow, Short nail, Sparse body hair, Plantar hyperker... OMIM:257980
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hyperkeratosis, Albinism, Thickened skin ORPHA:79431
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Chilblain Lupus
Hyperkeratosis ORPHA:90280
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Collagenoma, Familial Cutaneous
Sensorineural hearing impairment, Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasc... OMIM:115250
Costello Syndrome
Large earlobe, Woolly hair, Acanthosis nigricans, Low-set, posteriorly rotated ears, Hyperkeratos... ORPHA:3071
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Bone Marrow Failure Syndrome 3
Cryptorchidism, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Cupped ear, Hyperkeratosis, Nail ... OMIM:617052
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Hypokalemic Tubulopathy And Deafness
Sensorineural hearing impairment OMIM:619406
Pachyonychia Congenita 3
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Nail dystrophy, Palmopl... OMIM:615726
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Cardiofaciocutaneous Syndrome
EEG abnormality, Sparse hair, Brittle hair, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair,... ORPHA:1340
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... ORPHA:1435
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis OMIM:614457
Poikiloderma With Neutropenia
Sparse eyebrow, Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Recurrent otitis media, P... OMIM:604173
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Tremor, Macrotia, Abnormality of peripheral n... ORPHA:90321
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Congenital Disorder Of Glycosylation, Type If
Optic atrophy, Hyperkeratosis OMIM:609180
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Absent eyebrow, Alopecia, Follicular hyperkeratosis, Absent eyelashes, Nail dystr... OMIM:308205
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Incontinentia Pigmenti
Sparse hair, Supernumerary nipple, Alopecia, Coarse hair, Atrophic, patchy alopecia, Hypoplastic ... OMIM:308300
Lymphatic Malformation 12
Hydrocele testis, Hyperkeratosis OMIM:620014
Ramon Syndrome
Optic disc pallor, Hearing impairment, Hyperkeratosis, Hypertrichosis OMIM:266270
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Breast aplasia, ... ORPHA:238468
Familial Keratoacanthoma
Adenoma sebaceum, Hyperkeratosis ORPHA:493
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, Optic atrophy ORPHA:79330
Lichen Planus Pemphigoides
Hyperkeratosis ORPHA:254478
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Cryptorchidism, Follicular hyperkeratosis ORPHA:486815
Popov-Chang syndrome
Coarse hair, Hyperkeratosis, Recurrent otitis media OMIM:618428
Cardiofaciocutaneous Syndrome 1
Large earlobe, Low-set ears, Absent eyebrow, Sparse hair, Optic nerve dysplasia, Hyperkeratosis, ... OMIM:115150
Alacrima, Achalasia, And Mental Retardation Syndrome
Orthostatic hypotension, Hearing impairment, Hyperkeratosis, High anterior hairline OMIM:615510
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Trisomy 10P
EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... ORPHA:171929
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Vertigo, Hearing impairment, Hyperkeratosis ORPHA:79280
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Hyperkeratosis ORPHA:163966
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Orthokeratosis, Alopecia, Hyperkeratosis, Thyroid hypoplasia, Hearing impairment, Congenital icht... OMIM:308050
Porokeratosis
Hyperkeratosis ORPHA:79358
Punctate Palmoplantar Keratoderma Type 1
Orthokeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Hyperkeratotic papule, Palmoplantar ... ORPHA:79501
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Sclerodactyly, Nail dystrophy, Decreased testicular size, Palmoplantar keratoderma, Orthokeratoti... OMIM:610644
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Broad eyebrow, Hyperkeratosis, Frontal upsweep of hair OMIM:301220
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Hyperkeratosis with erythema, Sparse hair OMIM:118650
Nephropathy, Deafness, And Hyperparathyroidism
Sensorineural hearing impairment OMIM:256120
Milroy Disease
Hydrocele testis, Hyperkeratosis ORPHA:79452
Werner Syndrome
Pili torti, Sparse scalp hair, Ovarian neoplasm, Abnormal hair whorl, Aplasia/Hypoplasia of the t... ORPHA:902
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... ORPHA:909
Psoriasis 14, Pustular
Nail dystrophy, Parakeratosis OMIM:614204
Eec Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear, Thick eyebrow, Sparse eyebrow, D... ORPHA:1896
Vulvovaginal Gingival Syndrome
Parakeratosis ORPHA:83453
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Xeroderma Pigmentosum
Sensorineural hearing impairment, EEG abnormality, Cryptorchidism, Alopecia, Optic atrophy, Hyper... ORPHA:910
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse scalp hair, Sparse hair, Cryptorchidism, Loose anagen hair, Hyperkeratosis, Long eyelashes... OMIM:607721
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Hyperkeratosis OMIM:614576
Chromomycosis
Hyperkeratotic papule, Hyperkeratosis, Hyperparakeratosis ORPHA:182
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrocele testis, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Alopecia, Absent eyelashes... OMIM:137940
Dowling-Degos Disease
Hyperkeratotic papule, Hyperkeratosis ORPHA:79145
Noonan Syndrome 2
Cryptorchidism, Sparse eyebrow, Hyperkeratosis, Curly hair, Low-set ears, Posteriorly rotated ear... OMIM:605275
Fucosidosis
Hearing impairment, Generalized hyperkeratosis ORPHA:349
Noonan Syndrome 10
Cryptorchidism, Sparse eyebrow, Hyperkeratosis, Low-set ears, Curly hair OMIM:616564
Chime Syndrome
Sparse hair, Hyperkeratosis, Ichthyosis, Fine hair, Abnormality of the outer ear, Hearing impairment ORPHA:3474
Ullrich Congenital Muscular Dystrophy 1
Facial palsy, Protruding ear, Follicular hyperkeratosis OMIM:254090
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis ORPHA:158681
Neonatal Lupus Erythematosus
Hyperkeratosis, Parakeratosis ORPHA:398124
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Fair hair, Cryptorchidism, Sparse eyebrow, Facial hirsutism, Microtia, Absence... OMIM:604292
Gaucher Disease, Perinatal Lethal
Congenital nonbullous ichthyosiform erythroderma, Microtia, Ichthyosis, Hyperkeratosis, Low-set ears OMIM:608013
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Epidermal thickening, Abnormality of hair texture, Thick eyebrow, EEG abnormality, Synophrys, Hyp... ORPHA:73223
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Hyperkeratosis, Absent eyebrow, Trichodysplasia OMIM:601701
Mend Syndrome
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials ORPHA:401973
Kid Syndrome
Sparse hair, Sparse eyebrow, Sparse eyelashes, Follicular hyperkeratosis, Prelingual sensorineura... ORPHA:477
Incontinentia Pigmenti
Supernumerary nipple, Alopecia, Hearing abnormality, Hyperkeratosis, Dystrophic toenail, Abnormal... ORPHA:464
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Conductive hearing impairment, Fair hair, Sparse hair, Sparse eyebrow, Microti... OMIM:129900
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Kanzaki Disease
Sensorineural hearing impairment, Vertigo, Hyperkeratosis OMIM:609242
Autosomal Dominant Cerebellar Ataxia
Sensorineural hearing impairment, Hyperkeratosis ORPHA:99
De Sanctis-Cacchione Syndrome
Sensorineural hearing impairment, Optic atrophy, Bilateral cryptorchidism, Parakeratosis OMIM:278800
Koolen-De Vries Syndrome Due To A Point Mutation
Protruding ear, EEG abnormality, Fair hair, Cryptorchidism, Decreased response to growth hormone ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Protruding ear, EEG abnormality, Fair hair, Cryptorchidism, Decreased response to growth hormone ... ORPHA:363958
Hermansky-Pudlak Syndrome
Long eyelashes, Hypopigmentation of hair, Hyperkeratosis, Thickened skin ORPHA:79430
Leprosy
Abnormality of the seventh cranial nerve, Absent eyebrow, Abnormal autonomic nervous system physi... ORPHA:548
Juvenile Idiopathic Arthritis
Generalized hyperkeratosis, Thickened skin ORPHA:92
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis ORPHA:64745
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis ORPHA:284426
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:617388
Leprechaunism
Hypertrichosis, Protruding ear, Acanthosis nigricans, Facial hypertrichosis, Enlarged ovaries, Hy... ORPHA:508
6Q Terminal Deletion Syndrome
Low anterior hairline, Low-set, posteriorly rotated ears, Hyperkeratosis, Hypsarrhythmia, Highly ... ORPHA:75857
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hyperkeratosis OMIM:612852
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Kyphoscoliotic Ehlers-Danlos Syndrome
Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Follicular hyperke... ORPHA:536545
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Hyperparakeratosis, Ovarian serous cystadenoma, Microtia ORPHA:276280
Reactive Arthritis
Hyperkeratosis, Dystrophic fingernails ORPHA:29207
Clouston Syndrome
Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Palmoplantar hyperke... OMIM:129500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Abnormal pinna morphology, Cryptorchidism, Sparse eyebrow, Microtia, Sparse ey... OMIM:210710
Fabry Disease
Sensorineural hearing impairment, Optic atrophy, Hyperkeratosis, Vertigo, Hearing impairment ORPHA:324
Chronic Mucocutaneous Candidiasis