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, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 1B
Hearing impairment, Abnormal vestibular function OMIM:612645
Deafness, Autosomal Recessive 84A
Hearing impairment, Abnormal vestibular function OMIM:613391
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
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 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 25
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
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
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Sensorineural hearing impairment, Hyperkeratosis ORPHA:2202
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Abnormal vestibular function, Vertigo OMIM:600060
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 67
Sensorineural hearing impairment, Abnormal vestibular function, Bilateral sensorineural hearing i... OMIM:610265
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormal hair morphology OMIM:617756
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment, Absent vestibular function OMIM:607084
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
Auditory Neuropathy, Autosomal Dominant 2
Sensorineural hearing impairment, Abnormal speech discrimination OMIM:620384
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618422
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618410
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616357
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618481
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619174
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616969
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment, Abnormal vestibular function OMIM:609965
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment, Abnormal vestibular function OMIM:605583
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Abnormal vestibula... OMIM:601869
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment, Abnormal vestibular function OMIM:618003
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618787
Deafness, Autosomal Dominant 4B
Sensorineural hearing impairment, Abnormal vestibular function OMIM:614614
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
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
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
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, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Abnormal vestibular function OMIM:607821
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
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 Dominant 37
Sensorineural hearing impairment OMIM:618533
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
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 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 Recessive 120
Sensorineural hearing impairment OMIM:620238
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 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 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 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
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, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
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, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment 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
Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Abnormal hair morphology ORPHA:69125
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Moynahan Syndrome
Sensorineural hearing impairment, Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis, Generalized hirsutism ORPHA:2812
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Scarring alopecia of scalp, Sensorineural hearing impairment, Absent eyelashes, Hyper... OMIM:602540
Deafness, Autosomal Recessive 121
Sensorineural hearing impairment, Vestibular hypofunction OMIM:620551
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Thickened skin, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fin... ORPHA:189
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
Vohwinkel Syndrome, Variant Form
Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, H... OMIM:604117
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Brittle hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, F... OMIM:618546
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:607453
Keratoderma Hereditarium Mutilans
Ichthyosis, Sensorineural hearing impairment, Hyperkeratosis, Hearing impairment, Honeycomb palmo... ORPHA:494
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Deafness, Autosomal Recessive 109
Absent vestibular function, Abnormal semicircular canal morphology, Congenital sensorineural hear... OMIM:618013
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Leukonychia, Mixed hearing impairment, Congenital sensorineural hearing impairment, Palmoplantar ... ORPHA:2698
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Congenital nonbullous icht... ORPHA:79395
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Nail dystrophy, Ichthyosis, Parakeratosis, Linear arrays of macular hyperkeratoses in flexural ar... OMIM:601952
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Sensorineural hearing impairment, Dilated cardiomyopathy, Abnormal left... OMIM:605362
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis, Alopecia totalis OMIM:212360
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Congenital nonbullou... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous icht... OMIM:615024
Hidrotic Ectodermal Dysplasia, Halal Type
Protruding ear, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Hearing impairment, Sparse b... ORPHA:1809
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, Low-set ears, Stenosis of ... ORPHA:3216
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Palmoplantar h... OMIM:300918
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Ectodermal Dysplasia-Syndactyly Syndrome 2
Macrotia, Congenital bullous ichthyosiform erythroderma, Sparse hair, Palmoplantar keratoderma, F... OMIM:613576
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Progressive sensorineural hearing impairment, Alopecia OMIM:136300
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Recurrent otitis media, Hyperkeratosis, Absent eyelashes, Absent eyebrow, Sparse ... OMIM:618625
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis OMIM:617526
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Tremor, Decreased nerve conduction velocity, Adult onset sensor... ORPHA:1368
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Erythrokeratodermia Variabilis
Abnormal hair morphology, Hyperkeratosis, Abnormal testis morphology, Hearing impairment, Patchy ... ORPHA:317
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortic... ORPHA:231169
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Palmar hyperkeratosis, Nail dystrophy, Plantar hyperkeratosis ORPHA:79399
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Cole Disease
Abnormal hair morphology, Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Punctate pal... OMIM:615522
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231183
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment OMIM:608653
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Nail dystrophy, Yellow nails, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each... OMIM:148700
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy... OMIM:619208
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis, Patchy alopecia OMIM:247100
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Ramon Syndrome
Sensorineural hearing impairment, Hyperkeratosis, Conductive hearing impairment, Generalized hirs... ORPHA:3019
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Spinocerebellar atrophy, Head tremor, Hearing impairment, Conjunctival telangiecta... ORPHA:95433
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Dystrophic toenail, Palmoplantar hyperkeratosis ORPHA:89838
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Sensorineural hearing impairment, Hyperkeratosis, Sparse hair, Coarse hair ORPHA:1883
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Porokeratosis 3, Multiple Types
Nail dystrophy, Porokeratosis, Parakeratosis OMIM:175900
Peeling Skin Syndrome 4
Nail dystrophy, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:607936
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Follicular hyperkeratosis OMIM:607903
Erythrokeratodermia Variabilis Et Progressiva 3
Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:617525
Palmoplantar Keratoderma And Congenital Alopecia 1
Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Epidermal hyper... OMIM:104100
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Monilethrix
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Patchy alopecia, Abnormal eyebrow m... ORPHA:573
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Ichthyosis With Erythrokeratoderma
Leukonychia, Parakeratosis, Diffuse palmoplantar hyperkeratosis, Congenital ichthyosiform erythro... OMIM:620507
Monilethrix
Perifollicular hyperkeratosis, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse ... OMIM:158000
Ichthyosis, Annular Epidermolytic, 1
Ichthyosis, Hyperparakeratosis, Abnormal hair morphology, Congenital bullous ichthyosiform erythr... OMIM:607602
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Hypergra... ORPHA:2199
Acrokeratosis Verruciformis Of Hopf
Leukonychia, Nail dystrophy, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis ORPHA:79151
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Siddiqi Syndrome
Sensorineural hearing impairment, Limb dystonia OMIM:618635
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Abnormal vestibular function OMIM:276902
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Sensorineural hearing impairment, Nail dystrophy, Hyperkeratosis OMIM:616029
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Hematuria, Benign Familial, 2
Sensorineural hearing impairment OMIM:620320
Ulerythema Ophryogenesis
Sparse lateral eyebrow, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:3406
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Sparse scalp hair, Fin... ORPHA:90368
Deafness, Autosomal Recessive 77
Tinnitus, Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:613079
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dystrophy, Parakeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Spar... OMIM:242300
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Nail dystrophy, Parakeratosis, Ichthyosis, Hyperkeratosis, Woolly hair, Palmoplantar... OMIM:615821
Olmsted Syndrome 1
Nail dystrophy, Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, Sparse hair, Sub... OMIM:614594
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Hyperkeratosis, Sparse scalp hair, Fine hair, Pili torti 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, Prolonged QT interval, Prolonged QTc interval, Congenital sensorineural heari... OMIM:220400
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Circumungual hyperke... ORPHA:2200
Recessive X-Linked Ichthyosis
Hyperkeratosis, Cryptorchidism, Ichthyosis ORPHA:461
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis ORPHA:498359
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Bazex Syndrome
Nail dystrophy, Yellow nails, Parakeratosis, Acanthosis nigricans, Hyperkeratosis, Palmoplantar k... ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Hyperkeratosis, Curly hair, Sparse eyelashes, Sparse body hair, Sp... OMIM:602400
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Abnormal hair morphology OMIM:618531
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia OMIM:616042
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Leopard Syndrome 3
Sensorineural hearing impairment, Hyperkeratosis, Low-set ears, Low posterior hairline, Curly hai... OMIM:613707
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Ichthyosis, Orthokeratosis, Hypergranulosis OMIM:613943
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Charcot-Marie-Tooth Disease, Type 4K
Hearing impairment, Sensorineural hearing impairment, Dystonia OMIM:616684
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dystrophy, Palmar hyperkeratosis, Hyperkeratotic papule, Plantar hyperkeratosis, Alopecia ORPHA:79397
Bathing Suit Ichthyosis
Nail dystrophy, Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ichthyosiform er... ORPHA:100976
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:173200
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Acquired Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis ORPHA:454
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Generalized ichthyosis, Sparse ... ORPHA:2269
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnorma... ORPHA:100084
Acrokeratosis Verruciformis
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Acrokeratosis OMIM:101900
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Schopf-Schulz-Passarge Syndrome
Nail dystrophy, Hyperkeratosis, Sparse body hair, Sparse hair, Palmoplantar keratoderma OMIM:224750
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
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, 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
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Deafness, Autosomal Dominant 58
Sensorineural hearing impairment, Tinnitus OMIM:615654
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy ORPHA:89843
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis ORPHA:312
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
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Sensorineural hearing impairment, Follicular hyperkeratosis ORPHA:300179
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Congenital ichthyosiform erythroderma, Hyperkeratosis, Congenital nonbu... OMIM:242100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy, Abnormal a... OMIM:619260
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617992
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Sensorineural hearing impairment, Conductive hearing im... OMIM:620576
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Prolonged QT interval, Premature ventricular contraction, Congenital sensorin... OMIM:612347
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Lamellar Ichthyosis
Chronic otitis media, Ichthyosis, Hyperkeratosis, Abnormal helix morphology, Sparse hair, Aplasia... ORPHA:313
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re... OMIM:616881
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Sparse lateral eyebrow, Hypopla... OMIM:617337
Lymphatic Malformation 4
Hyperkeratosis, Hydrocele testis OMIM:615907
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:612281
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hyperkeratosis, Thickened skin, Abnormality of visual evoked potentials... ORPHA:79431
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Sensorineural hearing impairment OMIM:264140
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Hearing impairment, Hyperkeratosis, Vertigo ORPHA:79279
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Alport Syndrome 3B, Autosomal Recessive
Hearing impairment, Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:620536
Hereditary Sensory And Autonomic Neuropathy Type 1
Hearing impairment, Hyperkeratosis, Decreased amplitude of sensory action potentials, Abnormality... ORPHA:36386
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Ichthyosis, Hyperkeratosis, Low-set ears, Hypertrichosis OMIM:612379
Darier Disease
Abnormal hair morphology, Thickened skin, Acrokeratosis, Palmoplantar keratoderma, Subungual hype... ORPHA:218
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hearing impairment, Hyperkeratosis, Decreased pineal volume OMIM:301108
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Hearing impairment, Sparse hair, Protruding ear, Fine hair ORPHA:1806
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Ichthyosis, Annular Epidermolytic, 2
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis OMIM:620148
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Fine hair, Sparse hair, Alopecia ORPHA:1839
Classic Mycosis Fungoides
Hyperkeratosis, Alopecia ORPHA:2584
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Ichthyosis, Acanthosis nigricans, Sensorineural hearing impairment, Hyperkeratosis... OMIM:618527
Atrophoderma Vermiculata
Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthy... OMIM:614457
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hypergranulosis OMIM:615023
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis ORPHA:38
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Sensorineural hearing impairment, Vestibular areflexia, Intention tremor ORPHA:504476
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Björnstad Syndrome
Sensorineural hearing impairment ORPHA:123
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Nail dystrophy, Ichthyosis, Absent pubic hair, Sensorineural hearing impairment, Hype... OMIM:148210
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Cryptorchidism, Testicular seminoma, Ichthyosis ORPHA:281090
Ichthyosis Prematurity Syndrome
Generalized ichthyosis, Alopecia of scalp, Follicular hyperkeratosis OMIM:608649
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Hypsarrhythmia, Hyperkeratosis, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:610768
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy/Degeneration affecting the cerebrum, Orthostatic hypotension, Sensorineural hearing impai... ORPHA:99027
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Pachyonychia Congenita
Nail dystrophy, Palmoplantar keratoderma, Ear pain, Follicular hyperkeratosis, Linear arrays of m... ORPHA:2309
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyeb... OMIM:308800
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythro... OMIM:606545
Prolidase Deficiency
Hyperkeratosis, Hirsutism, Abnormality of the middle ear, White forelock, Hearing impairment, Gen... ORPHA:742
Lichen Planopilaris
Hyperkeratosis, Alopecia ORPHA:525
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio... OMIM:168000
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level, Paraganglioma, ... OMIM:605373
Harlequin Ichthyosis
Congenital ichthyosiform erythroderma, Hyperkeratosis, Hearing abnormality, Ichthyosis ORPHA:457
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Sjögren-Larsson Syndrome
Hyperkeratosis, Ichthyosis ORPHA:816
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Psoriasis 2
Hyperkeratosis, Parakeratosis OMIM:602723
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Abnormal helix morp... ORPHA:1005
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Follicular hyper... OMIM:616295
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-... OMIM:609136
Noonan Syndrome 8
Hyperkeratosis, Cryptorchidism, Low-set ears, Curly hair OMIM:615355
Sialidosis Type 1
Sensorineural hearing impairment, Hyperkeratosis, EEG abnormality, Decreased nerve conduction vel... ORPHA:812
Proteus Syndrome
Hyperkeratosis OMIM:176920
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
Naxos Disease
Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly hair, Curly hair, Spa... OMIM:601214
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Hyperkeratosis, Tiger tail banding, Trichosch... OMIM:601675
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Orthok... OMIM:604777
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Alopecia of scalp ORPHA:530
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Fine hair ORPHA:1028
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Follicular hyperkeratosis OMIM:615225
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Abnormal vestibular function OMIM:606943
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis, Low-set ears, Macrotia, Ovarian cyst, Hypertrichosis OMIM:246200
Odontoonychodermal Dysplasia
Dystrophic fingernails, Palmoplantar hyperkeratosis, Dystrophic toenail, Sparse scalp hair, Hyper... OMIM:257980
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Sparse hair, Protruding ear, Fine hair, Epidermal hyperkeratosis OMIM:190351
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis OMIM:615147
Costello Syndrome
Acanthosis nigricans, Low-set, posteriorly rotated ears, Abnormal hair morphology, Hyperkeratosis... ORPHA:3071
Chilblain Lupus
Hyperkeratosis ORPHA:90280
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Sensorineural he... OMIM:115250
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Ichthyosis, Thick hair, Bile duct proliferation, Sparse eyelashes, Sparse eyebrow,... OMIM:607626
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Hypergranulosis, Sparse hair, Palmoplantar keratoderma, Acantholysis, Orthokeratosis OMIM:615508
Poikiloderma With Neutropenia
Nail dystrophy, Recurrent otitis media, Hyperkeratosis, Low posterior hairline, Sparse lateral ey... OMIM:604173
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials OMIM:193700
Netherton Syndrome
Parakeratosis, Brittle hair, Sparse scalp hair, Brittle scalp hair, Sparse eyebrow, Congenital no... OMIM:256500
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
7Q31 Microdeletion Syndrome
Childhood onset sensorineural hearing impairment, Torticollis, Low-set ears, Hypoplasia of the se... ORPHA:251061
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Cardiofaciocutaneous Syndrome
Optic atrophy, Dystrophic fingernails, Ichthyosis, Sparse or absent eyelashes, Low-set, posterior... ORPHA:1340
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Pachyonychia Congenita 3
Nail dystrophy, Palmoplantar keratoderma, Palmar hyperkeratosis, Plantar hyperkeratosis, Follicul... OMIM:615726
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Hypertension, Bilat... ORPHA:1435
Cockayne Syndrome Type 1
Optic atrophy, Hypertension, Tremor, Absent brainstem auditory responses, Hearing impairment, Mac... ORPHA:90321
Lymphatic Malformation 12
Hyperkeratosis, Hydrocele testis OMIM:620014
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Hyperkeratosis, ... ORPHA:238468
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Nail dystrophy, Breast aplasia, Hyperkeratosis, Hypoplastic nip... OMIM:308300
Mucoepithelial Dysplasia, Hereditary
Nail dystrophy, Alopecia, Hearing impairment, Sparse hair, Coarse hair, Follicular hyperkeratosis OMIM:158310
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis OMIM:618084
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Cryptorchidism, Follicular hyperkeratosis ORPHA:486815
Congenital Disorder Of Glycosylation, Type If
Optic atrophy, Hyperkeratosis, Hypsarrhythmia OMIM:609180
Ramon Syndrome
Hearing impairment, Hyperkeratosis, Optic disc pallor, Hypertrichosis OMIM:266270
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, Hearing impairment, High anterior hairline, Orthostatic hypotension OMIM:615510
Familial Keratoacanthoma
Hyperkeratosis, Adenoma sebaceum ORPHA:493
Lichen Planus Pemphigoides
Hyperkeratosis ORPHA:254478
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hearing impairment, Vertigo, Hyperkeratosis, Tinnitus ORPHA:79280
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Decreased nerve conduction velocity, Axonal degeneration, Re... ORPHA:909
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Ichthyosis, Slow-growing hair, Absent eyelashes, Hyperkeratosis, Low-set e... OMIM:115150
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis OMIM:620483
Bone Marrow Failure Syndrome 3
Nail dystrophy, Hyperechogenic pancreas, Hyperkeratosis, Hearing impairment, Sparse hair, Aplasia... OMIM:617052
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Hyperkeratosis, Thyroid hypoplasia, Hearing impairment, Congenital ichthyosiform e... OMIM:308050
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Low-set ears ORPHA:163966
Punctate Palmoplantar Keratoderma Type 1
Nail dystrophy, Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmopla... ORPHA:79501
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Nail dystrophy, Sclerodactyly, Decreased testicular size, Orthokeratotic hyperkeratosis, Palmopla... OMIM:610644
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:216400
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Frontal upsweep of hair, Broad eyebrow OMIM:301220
Werner Syndrome
Premature graying of hair, Aplasia/Hypoplasia of the testes, Ovarian neoplasm, Hyperkeratosis, Sp... ORPHA:902
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:133540
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Restlessness ORPHA:100924
Milroy Disease
Hyperkeratosis, Hydrocele testis ORPHA:79452
Vulvovaginal Gingival Syndrome
Parakeratosis ORPHA:83453
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Epidermal hyperk... OMIM:137940
Eec Syndrome
Nail dystrophy, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ... ORPHA:1896
Psoriasis 14, Pustular
Nail dystrophy, Parakeratosis OMIM:614204
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Hyperkeratosis with erythema, Sparse hair OMIM:118650
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Posteriorly rotated ears, Multinodular goiter OMIM:620189
Xeroderma Pigmentosum
Optic atrophy, Sensorineural hearing impairment, Hyperkeratosis, Decreased testicular size, Heari... ORPHA:910
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Hyperkeratosis, Thickened skin, Sparse hair, Palmoplantar hyper... OMIM:601812
Dowling-Degos Disease
Hyperkeratosis, Hyperkeratotic papule ORPHA:79145
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hyperkeratosis, Long eyelashes, Thickened skin, Abnormality of visual e... ORPHA:79430
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Ichthyosis, Hyperkeratosis, Low-set ears, Sparse scalp hair, Long eyelashes, C... OMIM:607721
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Hyperkeratosis OMIM:614576
Chromomycosis
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule ORPHA:182
Fucosidosis
Hearing impairment, Generalized hyperkeratosis ORPHA:349
Noonan Syndrome 10
Hyperkeratosis, Low-set ears, Curly hair, Sparse eyebrow, Cryptorchidism OMIM:616564
Chime Syndrome
Ichthyosis, Hyperkeratosis, Hearing impairment, Sparse hair, Abnormality of the outer ear, Fine hair ORPHA:3474
Ullrich Congenital Muscular Dystrophy 1A
Protruding ear, Facial palsy, 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
Nail dystrophy, Decreased response to growth hormone stimulation test, Absence of Stensen duct, F... OMIM:604292
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Gaucher Disease, Perinatal Lethal
Ichthyosis, Hyperkeratosis, Microtia, Low-set ears, Congenital nonbullous ichthyosiform erythroderma OMIM:608013
Arthrogryposis And Ectodermal Dysplasia
Trichodysplasia, Trichiasis, Hyperkeratosis, Absent eyebrow OMIM:601701
Kid Syndrome
Nail dystrophy, Prelingual sensorineural hearing impairment, Scarring alopecia of scalp, Congenit... ORPHA:477
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Aortic valve stenosis ORPHA:401973
Acute Radiation Syndrome
Vertigo, Hyperkeratosis ORPHA:454831
Incontinentia Pigmenti
Hearing abnormality, Abnormal hair morphology, Hyperkeratosis, Dystrophic toenail, Supernumerary ... ORPHA:464
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Epidermal thickening, Synophrys, Thickened skin, Orthokeratotic hype... ORPHA:73223
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Decreased response to growth hormone stimulation test, Absence of Stensen duct, Hyperkeratosis, H... OMIM:129900
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Decreased response to growth hormone stimulation test, Recurrent otitis media, Ich... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Recurrent otitis media, Ich... ORPHA:363958
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis ORPHA:163525
De Sanctis-Cacchione Syndrome
Optic atrophy, Sensorineural hearing impairment, Parakeratosis, Bilateral cryptorchidism OMIM:278800
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis ORPHA:64745
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis ORPHA:284426
Kanzaki Disease
Sensorineural hearing impairment, Hyperkeratosis, Vertigo OMIM:609242
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:617388
Leprosy
Abnormal seventh cranial physiology, Loss of eyelashes, Hyperkeratosis, Abnormal autonomic nervou... ORPHA:548
Leprechaunism
Acanthosis nigricans, Hyperkeratosis, Low-set ears, Thickened skin, Protruding ear, Enlarged ovar... ORPHA:508
6Q Terminal Deletion Syndrome
Low-set, posteriorly rotated ears, Highly arched eyebrow, Hypsarrhythmia, Hyperkeratosis, Low ant... ORPHA:75857
Bethlem Muscular Dystrophy
Hyperkeratosis ORPHA:610
Noonan Syndrome 2
Hyperkeratosis, Low-set ears, Low posterior hairline, Curly hair, Sparse eyebrow, Posteriorly rot... OMIM:605275
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis OMIM:612852
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dystrophy, Dystrophic fingernails, Aganglionic megacolon, Ichthyosis follicularis, Follicula... OMIM:308205
Chronic Mucocutaneous Candidiasis
Hyperkeratosis ORPHA:1334
Neuroblastoma
Elevated circulating catecholamine level ORPHA:635
Fabry Disease
Optic atrophy, Sensorineural hearing impairment, Hyperkeratosis, Vertigo, Hearing impairment ORPHA:324
Clouston Syndrome
Nail dystrophy, Absent pubic hair, Brittle hair, Slow-growing hair, Palmoplantar hyperkeratosis, ... OMIM:129500
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Kyphoscoliotic Ehlers-Danlos Syndrome
Sensorineural hearing impairment, Low-set ears, Synophrys, Hearing impairment, Conductive hearing... ORPHA:536545
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Ectodermal Dysplasia-Skin Fragility Syndrome
Nail dystrophy, Sparse hair, Palmoplantar keratoderma, Alopecia universalis, Follicular hyperkera... ORPHA:158668
Reactive Arthritis
Hyperkeratosis, Dystrophic fingernails ORPHA:29207
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Microtia, Hyperparakeratosis, Hydrocele testis ORPHA:276280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Ichthyosis, Abnormal hair morphology, Abnormal eyelash morphology, Hyperke... ORPHA:2273
Lymphatic Filariasis
Hydrocele testis, Hyperkeratosis, Orchitis, Vaginal hydrocele ORPHA:2035
Cowden Syndrome
Adenoma sebaceum, Generalized hyperkeratosis, Enlarged polycystic ovaries, Hearing impairment, Pa... ORPHA:201
Warburg-Cinotti Syndrome
Follicular hyperkeratosis, Low-set ears, Atresia of the external auditory canal, Conductive heari... OMIM:618175
Meige Disease
Cobblestone-like hyperkeratosis ORPHA:90186
Atypical Werner Syndrome
Premature graying of hair, Ovarian neoplasm, Abnormal hair morphology, Abnormal hair quantity, Hy... ORPHA:79474
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea morphology, Abnormal helix morphology, Lo... ORPHA:798
Restrictive Dermopathy
Generalized hyperkeratosis, Sparse or absent eyelashes, Low-set ears, Aplasia/Hypoplastia of the ... ORPHA:1662
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Norrie Disease
Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp... ORPHA:649
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperkeratosis, Microtia, Low-set ears, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Spar... OMIM:210710
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Cholelithiasis, Pancreatic hypoplasia, Low-set ears, Biliary hyperplasia, Cryptorc... ORPHA:83617
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Elevated cir... ORPHA:892
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2908
Restrictive Dermopathy 1
Absent eyelashes, Low-set ears, Sparse eyelashes, Short nail, Sparse eyebrow, Aplasia/Hypoplasia ... OMIM:275210
Proteus Syndrome