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Gene: Gjb6 MGI:107588

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment 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
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment 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
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis, Sensorineural hearing impairment ORPHA:2202
Deafness, Autosomal Dominant 11
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Vertigo OMIM:601317
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment 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
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... OMIM:610265
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Deafness, Autosomal Recessive 31
Absent vestibular function, Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Deafness, Autosomal Recessive 94
Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:618434
Deafness, Autosomal Recessive 100
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 35
Abnormal ear morphology, Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 15
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... OMIM:601869
Deafness, Autosomal Recessive 57
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Dominant 76
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... 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
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment 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
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis 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
Abnormal cochlea morphology, Sensorineural hearing impairment 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
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Follicular hyperkeratosis, Alopecia of scalp, Hyperkeratosis ORPHA:69125
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Perifollicular hyperkeratosis ORPHA:505
Moynahan Syndrome
Alopecia, Sparse hair, Hyperkeratosis, Sensorineural hearing impairment ORPHA:2574
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Ichthyosis Hystrix Of Curth-Macklin
Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy ORPHA:79503
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Nathalie Syndrome
Arrhythmia, Sensorineural hearing impairment ORPHA:2663
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Parana Hard Skin Syndrome
Generalized hirsutism, Thickened skin, Hyperkeratosis ORPHA:2812
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Deafness, Autosomal Recessive 121
Vestibular hypofunction, Sensorineural hearing impairment 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
Thickened skin, Hearing impairment, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Spars... ORPHA:189
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Keratoderma Hereditarium Mutilans
Alopecia, Hearing impairment, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Sensorineural he... ORPHA:494
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Congenital sensorineural hearing impairment, Leu... ORPHA:2698
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper... OMIM:601952
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
Dilated cardiomyopathy, Congestive heart failure, Sensorineural hearing impairment, Abnormal left... OMIM:605362
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Nail dystrophy, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly OMIM:212360
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Hidrotic Ectodermal Dysplasia, Halal Type
Hearing impairment, Supernumerary nipple, Sparse body hair, Absent eyelashes, Protruding ear, Tri... ORPHA:1809
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,... OMIM:615024
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... OMIM:300918
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Sparse hair, Congenital bullous ichthyosifor... OMIM:613576
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Flynn-Aird Syndrome
Alopecia, Progressive sensorineural hearing impairment, Alopecia of scalp, Hyperkeratosis OMIM:136300
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function OMIM:274600
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absent eyebrow, Sparse hair, Hyperkerat... OMIM:618625
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Adult onset sensorineural hearing impairment, Tremor, 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
Alopecia, Hearing impairment, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Gener... ORPHA:317
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Subcortical... ORPHA:231169
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Cole Disease
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m... OMIM:615522
Usher Syndrome Type 3
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231183
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment OMIM:608653
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera... OMIM:148700
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, Parakeratos... OMIM:619208
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Patchy alopecia, Hyperkeratosis OMIM:247100
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Ramon Syndrome
Generalized hirsutism, Sensorineural hearing impairment, Hyperkeratosis, Conductive hearing impai... ORPHA:3019
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Head tremor, Conjunctival telangiectasi... ORPHA:95433
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Palmoplantar hyperkeratosis, Dystrophic toenail, Hyperkeratosis ORPHA:89838
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Sensorineural hearing impairment, Brittle hair, Sparse hair, Hyperkeratosis ORPHA:1883
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Aganglionic megacolon, White eyebrow, Wh... OMIM:600501
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Hyperkeratosis OMIM:607936
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Sparse hair OMIM:607903
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Hyperkeratosis OMIM:617525
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Brittle hair, Plantar hyperkerat... OMIM:104100
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... ORPHA:573
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Ichthyosis With Erythrokeratoderma
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse palmoplanta... OMIM:620507
Monilethrix
Alopecia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Perifollicular ... OMIM:158000
Ichthyosis, Annular Epidermolytic, 1
Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar hyperkerat... OMIM:607602
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke... ORPHA:2199
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Leukonychia, Nail dystrophy, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal vestibular function OMIM:619553
Siddiqi Syndrome
Limb dystonia, Sensorineural hearing impairment OMIM:618635
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Usher Syndrome, Type Iiia
Abnormal vestibular function, Sensorineural hearing impairment OMIM:276902
Ectodermal Dysplasia/Short Stature Syndrome
Sensorineural hearing impairment, Palmoplantar keratoderma, Nail dystrophy, Hyperkeratosis OMIM:616029
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Hematuria, Benign Familial, 2
Sensorineural hearing impairment OMIM:620320
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow ORPHA:3406
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Slow-growing scal... ORPHA:90368
Deafness, Autosomal Recessive 77
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:613079
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Ichthyosis, Nail dystrophy, Parakeratosis, Palmo... OMIM:242300
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Leukonychia, Ichthyosis, Nail dystrophy, Parakeratosis, Woolly hair, Hy... OMIM:615821
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Congenital sensorineural hearing impairment, Syncope, Prolonged QT interval, ... OMIM:220400
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera... ORPHA:2200
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Cryptorchidism ORPHA:461
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma ORPHA:498359
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Hype... ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h... OMIM:602400
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Parakeratosis OMIM:618531
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Leopard Syndrome 3
Low-set ears, Sensorineural hearing impairment, Low posterior hairline, Posteriorly rotated ears,... OMIM:613707
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Hearing impairment, Sensorineural hearing impairment OMIM:616684
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Nail dystrophy, Palmar hyperkeratosis, Plantar hyperkeratosis ORPHA:79397
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Ichthyosis, Nail dystrophy, Parakeratosis, Palmoplantar hyperkeratosis,... ORPHA:100976
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Acquired Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis ORPHA:454
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Alopecia of scalp, Absen... ORPHA:2269
Middle Ear Neuroendocrine Tumor
Abnormal tympanic membrane morphology, Unilateral conductive hearing impairment, Sensorineural he... ORPHA:100084
Acrokeratosis Verruciformis
Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Sparse hair, Hyperkeratosis OMIM:224750
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
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy OMIM:167200
Deafness, Autosomal Dominant 58
Tinnitus, Sensorineural hearing impairment OMIM:615654
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Deafness-Vitiligo-Achalasia Syndrome
EEG abnormality, Sensorineural hearing impairment 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
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis ORPHA:312
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment OMIM:605594
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Sensorineural hearing impairment ORPHA:300179
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Abnor... OMIM:242100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617992
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... OMIM:612347
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment 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
Abnormal helix morphology, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hyperkerat... 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, Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Trichorrhexis nodosa, Nail dyst... OMIM:617337
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis OMIM:615907
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, ... OMIM:612281
Oculocutaneous Albinism Type 1A
Thickened skin, Albinism, Hypopigmentation of hair, Hyperkeratosis, Abnormality of visual evoked ... ORPHA:79431
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Pulmonic stenosis, Sensorineural hearing impairment OMIM:264140
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Follicular... OMIM:613102
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Vertigo, Optic atrophy, Hyperkeratosis, Hearing impairment ORPHA:79279
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Alport Syndrome 3B, Autosomal Recessive
Bilateral sensorineural hearing impairment, Hearing impairment, Sensorineural hearing impairment OMIM:620536
Hereditary Sensory And Autonomic Neuropathy Type 1
Decreased amplitude of sensory action potentials, Abnormality of the autonomic nervous system, Hy... ORPHA:36386
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Optic atrophy, Hypertrichosis, Ichthyosis, Hyperkeratosis OMIM:612379
Darier Disease
Thickened skin, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic frag... ORPHA:218
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hyperkeratosis, Hearing impairment, Decreased pineal volume OMIM:301108
Ectodermal Dysplasia-Blindness Syndrome
Hearing impairment, Fine hair, Protruding ear, Sparse hair, Hyperkeratosis ORPHA:1806
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Enlarged cochlear aqueduct, Stenosis ... ORPHA:107
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:620148
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Hyperkeratosis, Fine hair ORPHA:1839
Classic Mycosis Fungoides
Alopecia, Hyperkeratosis ORPHA:2584
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ichthyosis, Sensorineural hearing impairment, Parakeratosis, Acanthosis nigricans, Optic disc pal... OMIM:618527
Atrophoderma Vermiculata
Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis, Abnormality of visu... OMIM:614457
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Ichthyosis, Congenital, Autosomal Recessive 9
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Hypergranulosis OMIM:615023
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis ORPHA:38
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Vestibular areflexia, Intention tremor, Sensorineural hearing impairment ORPHA:504476
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Björnstad Syndrome
Sensorineural hearing impairment ORPHA:123
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse eyelashes, Sensorineural hearing i... OMIM:148210
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Testicular seminoma, Hyperkeratosis, Cryptorchidism ORPHA:281090
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Generalized ichthyosis, Alopecia of scalp OMIM:608649
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyebrow, Ichthyosis, Sparse eyelashes, Hypsarrhythmia, Hyperkeratosis OMIM:610768
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting t... ORPHA:99027
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Pachyonychia Congenita
Alopecia, Palmoplantar keratoderma, Nail dystrophy, Linear arrays of macular hyperkeratoses in fl... ORPHA:2309
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Dystrophic fingernail... OMIM:308800
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Cervical spinal cord atrophy, Sens... ORPHA:101085
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkera... OMIM:606545
Prolidase Deficiency
Palmoplantar keratoderma, Hearing impairment, White forelock, Hirsutism, Generalized hirsutism, L... ORPHA:742
Lichen Planopilaris
Alopecia, Hyperkeratosis ORPHA:525
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Harlequin Ichthyosis
Ichthyosis, Hearing abnormality, Hyperkeratosis, Congenital ichthyosiform erythroderma 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
Parakeratosis, Hyperkeratosis OMIM:602723
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal helix morphology, Low-set, posteriorly rotated ears, Ichthyosis, Abnormal anti... ORPHA:1005
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, 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
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... OMIM:609136
Noonan Syndrome 8
Low-set ears, Hyperkeratosis, Cryptorchidism, Curly hair OMIM:615355
Sialidosis Type 1
Decreased nerve conduction velocity, Hyperkeratosis, EEG abnormality, Sensorineural hearing impai... ORPHA:812
Proteus Syndrome
Hyperkeratosis OMIM:176920
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
Naxos Disease
Sparse eyebrow, Subungual hyperkeratosis, Palmoplantar keratoderma, Sparse body hair, Nail dystro... OMIM:601214
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Trichothiodystrophy 1, Photosensitive
Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, Protruding ea... OMIM:601675
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Lipoid Proteinosis
Thickened skin, Alopecia of scalp, Hyperkeratosis ORPHA:530
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Fine hair ORPHA:1028
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis OMIM:615225
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment OMIM:606943
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Donohue Syndrome
Low-set ears, Hypertrichosis, Ovarian cyst, Acanthosis nigricans, Hyperkeratosis, Macrotia OMIM:246200
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Orthokerat... OMIM:257980
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Fine hair, Protruding ear, Sparse 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
Abnormal hair morphology, Low-set, posteriorly rotated ears, Large earlobe, Cryptorchidism, Acant... ORPHA:3071
Chilblain Lupus
Hyperkeratosis ORPHA:90280
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Ichthyosis, Sparse eyelashes, Parakeratosis, Thick hair... OMIM:607626
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Acantholysis, Sparse hair OMIM:615508
Poikiloderma With Neutropenia
Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Recurrent otitis media, Nail dy... OMIM:604173
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Parakeratosis, Brittle hair, Congenital nonbullous ichthyosif... OMIM:256500
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... ORPHA:251061
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Cardiofaciocutaneous Syndrome
Optic atrophy, Palmoplantar keratoderma, Fine hair, Low-set, posteriorly rotated ears, Aplasia/Hy... 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
Acantholysis, Hyperkeratosis ORPHA:2841
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Pachyonychia Congenita 3
Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Palmar hyperkeratosis, Plant... OMIM:615726
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... ORPHA:90321
Lymphatic Malformation 12
Hydrocele testis, Hyperkeratosis OMIM:620014
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Breast aplasia, Trichorrhexis nodosa, Aplasia/Hypoplasia of... ORPHA:238468
Incontinentia Pigmenti
Optic atrophy, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hyp... OMIM:308300
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Hearing impairment, Nail dystrophy, Follicular hyperkeratosis, Sparse hair 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
Follicular hyperkeratosis, Cryptorchidism ORPHA:486815
Congenital Disorder Of Glycosylation, Type If
Optic atrophy, Hypsarrhythmia, Hyperkeratosis OMIM:609180
Ramon Syndrome
Optic disc pallor, Hyperkeratosis, Hearing impairment, Hypertrichosis OMIM:266270
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
High anterior hairline, Hyperkeratosis, Hearing impairment, Orthostatic hypotension OMIM:615510
Familial Keratoacanthoma
Hyperkeratosis, Adenoma sebaceum ORPHA:493
Lichen Planus Pemphigoides
Hyperkeratosis ORPHA:254478
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Vertigo, Tinnitus, Hyperkeratosis, Hearing impairment ORPHA:79280
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Global brain atrophy, Res... ORPHA:909
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Cardiofaciocutaneous Syndrome 1
Low-set ears, Hearing impairment, Large earlobe, Anterior creases of earlobe, Ichthyosis, Optic n... OMIM:115150
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis OMIM:620483
Bone Marrow Failure Syndrome 3
Cupped ear, Hearing impairment, Cryptorchidism, Nail dystrophy, Hyperechogenic pancreas, Aplasia/... OMIM:617052
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Orthokeratosis, Congenital ichthyosiform erythroderma, Hearing impairment, Parakeratosi... OMIM:308050
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Hyperkeratosis ORPHA:163966
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Pancreatic aden... ORPHA:79501
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Decreased testicular size, Nail dystrophy, Orthokeratotic hyperkeratosi... OMIM:610644
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... OMIM:216400
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Broad eyebrow, Frontal upsweep of hair, Hyperkeratosis OMIM:301220
Werner Syndrome
Abnormal hair whorl, Premature graying of hair, White forelock, Pili torti, Aplasia/Hypoplasia of... ORPHA:902
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Cerebral atrophy, Decreased nerve conduction ... OMIM:133540
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Milroy Disease
Hydrocele testis, Hyperkeratosis ORPHA:79452
Vulvovaginal Gingival Syndrome
Parakeratosis ORPHA:83453
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Hydrocele testis, Sparse scalp hair... OMIM:137940
Eec Syndrome
Sparse eyebrow, Coarse hair, Fine hair, Decreased response to growth hormone stimulation test, Th... ORPHA:1896
Psoriasis 14, Pustular
Parakeratosis, Nail dystrophy OMIM:614204
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Sparse hair, Coarse hair OMIM:118650
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Hyperkeratosis, Multinodular goiter OMIM:620189
Xeroderma Pigmentosum
Thickened skin, Alopecia, Optic atrophy, Hearing impairment, Decreased testicular size, Cryptorch... ORPHA:910
Premature Aging Syndrome, Penttinen Type
Thickened skin, Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Sparse hair, Hyper... OMIM:601812
Dowling-Degos Disease
Hyperkeratotic papule, Hyperkeratosis ORPHA:79145
Hermansky-Pudlak Syndrome
Thickened skin, Long eyelashes, Hypopigmentation of hair, Hyperkeratosis, Abnormality of visual e... ORPHA:79430
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Low-set ears, Long eyelashes, Cryptorchidism, Ichthyosis, Posteriorly rotated ... OMIM:607721
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Hyperkeratosis OMIM:614576
Chromomycosis
Hyperkeratotic papule, Hyperkeratosis, Hyperparakeratosis ORPHA:182
Fucosidosis
Hearing impairment, Generalized hyperkeratosis ORPHA:349
Noonan Syndrome 10
Low-set ears, Sparse eyebrow, Cryptorchidism, Curly hair, Hyperkeratosis OMIM:616564
Chime Syndrome
Abnormality of the outer ear, Hearing impairment, Fine hair, Ichthyosis, Sparse hair, Hyperkeratosis 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
Parakeratosis, Hyperkeratosis ORPHA:398124
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Fair hair, Hearing impairment, Decreased response to growth ho... OMIM:604292
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Gaucher Disease, Perinatal Lethal
Low-set ears, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Microtia OMIM:608013
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Trichodysplasia, Absent eyebrow, Hyperkeratosis OMIM:601701
Kid Syndrome
Sparse eyebrow, Prelingual sensorineural hearing impairment, Palmoplantar keratoderma, Congenital... ORPHA:477
Mend Syndrome
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials ORPHA:401973
Acute Radiation Syndrome
Vertigo, Hyperkeratosis ORPHA:454831
Incontinentia Pigmenti
Alopecia, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, Hearing abnormality... ORPHA:464
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Thick eyebrow, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, EEG abnor... ORPHA:73223
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Conductive hearing impairment, Fair hair, Decreased response t... 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, Alopecia, Fair hair, Hearing impairment, Decreased response to growth hormone stim... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Alopecia, Fair hair, Hearing impairment, Decreased response to growth hormone stim... ORPHA:363958
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis ORPHA:163525
De Sanctis-Cacchione Syndrome
Sensorineural hearing impairment, Parakeratosis, Optic atrophy, Bilateral cryptorchidism OMIM:278800
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis ORPHA:64745
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis ORPHA:284426
Kanzaki Disease
Vertigo, Hyperkeratosis, Sensorineural hearing impairment OMIM:609242
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:617388
Leprosy
Alopecia, Testicular mass, Sparse body hair, Loss of eyelashes, Absent eyebrow, Abnormal autonomi... ORPHA:548
Leprechaunism
Low-set ears, Thickened skin, Facial hypertrichosis, Hypertrichosis, Protruding ear, Enlarged ova... ORPHA:508
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Low-set, posteriorly rotated ears, Low anterior hairline, Hypsarrhythmia, ... ORPHA:75857
Bethlem Muscular Dystrophy
Hyperkeratosis ORPHA:610
Noonan Syndrome 2
Low-set ears, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Posteriorly rotated ears, C... OMIM:605275
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis OMIM:612852
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Alopecia, Atrichia, Subungual hyperkeratosis, Hearing impairment, Crypto... OMIM:308205
Chronic Mucocutaneous Candidiasis
Hyperkeratosis ORPHA:1334
Neuroblastoma
Elevated circulating catecholamine level ORPHA:635
Fabry Disease
Optic atrophy, Hearing impairment, Vertigo, Sensorineural hearing impairment, Hyperkeratosis ORPHA:324
Clouston Syndrome
Alopecia, Sparse eyebrow, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, Sparse eyela... OMIM:129500
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment... ORPHA:536545
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Mixed hearing impairment, Follicular hyperkeratosis, High-frequency sensorineural hearing impairm... OMIM:614557
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Sparse... ORPHA:158668
Reactive Arthritis
Dystrophic fingernails, Hyperkeratosis ORPHA:29207
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Hyperparakeratosis, Microtia ORPHA:276280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Alopecia, Abnormal hair morphology, Thin eyebrow, Cryptorchidism, Ichthyosis, Aganglionic megacol... ORPHA:2273
Lymphatic Filariasis
Vaginal hydrocele, Hyperkeratosis, Hydrocele testis, Orchitis ORPHA:2035
Cowden Syndrome
Palmoplantar keratoderma, Hearing impairment, Goiter, Generalized hyperkeratosis, Enlarged polycy... ORPHA:201
Warburg-Cinotti Syndrome
Low-set ears, Hypoplasia of the ear cartilage, Conductive hearing impairment, Atresia of the exte... OMIM:618175
Meige Disease
Cobblestone-like hyperkeratosis ORPHA:90186
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h... ORPHA:79474
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... ORPHA:798
Restrictive Dermopathy
Low-set ears, Sparse eyebrow, Short nail, Generalized hyperkeratosis, Sparse or absent eyelashes,... ORPHA:1662
Norrie Disease
Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Sensorineural hearing impair... ORPHA:649
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Sparse eyebrow, Fine hair, Cryptorchidism, Sparse eyelashes, Sparse hair, Hyperkera... OMIM:210710
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperpl... ORPHA:83617
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma... ORPHA:892
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2908
Restrictive Dermopathy 1
Low-set ears, Sparse eyebrow, Short nail, Sparse eyelashes, Absent eyelashes, Aplasia/Hypoplasia ... OMIM:275210
Proteus Syndrome
Low-set ears, Thickened skin, Thymus hyperplasia, Generalized hyperkeratosis, Narrow internal aud... ORPHA:744
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Follicular hyperkeratosis OMIM:225400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277

Histopathology

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

There is no histopathology data for Gjb6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gjb6.

No publications found that use IMPC mice or data for Gjb6.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gjb6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gjb6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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