| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
| Deafness, Autosomal Recessive 1B |
|
Vestibular dysfunction, Hearing impairment |
OMIM:612645 |
| Deafness, Autosomal Recessive 84A |
|
Vestibular dysfunction, Hearing impairment |
OMIM:613391 |
| Deafness, Autosomal Dominant 73 |
|
Hearing impairment |
OMIM:617663 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
| Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
| Deafness, Autosomal Dominant 74 |
|
Hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 18B |
|
Hearing impairment |
OMIM:614945 |
| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Dominant 4B |
|
Hearing impairment |
OMIM:614614 |
| Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
| Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
| Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
| Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
| Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
| Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
| Deafness, Autosomal Dominant 56 |
|
Hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
| Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
| Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
| Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
| Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
| Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
| Facial Paresis, Hereditary Congenital, 2 |
|
Hearing impairment, Facial palsy |
OMIM:604185 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
| Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
| Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural hearing impairment |
OMIM:607101 |
| Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
| Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
| Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
| Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
| Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment, Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
| Deafness, Autosomal Recessive 2 |
|
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction |
OMIM:600060 |
| Deafness, Autosomal Dominant 11 |
|
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment |
OMIM:601317 |
| Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
| Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
| Deafness, Autosomal Recessive 94 |
|
Vestibular dysfunction, Bilateral sensorineural hearing impairment |
OMIM:618434 |
| Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
| Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
| Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:600974 |
| Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
| Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617605 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Sensorineural hearing impairment, Hand tremor |
OMIM:300905 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:212850 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
| Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
| Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
| Deafness, Autosomal Recessive 37 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:607821 |
| Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Hyperkeratosis |
ORPHA:2297 |
| Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
| Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
| Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
| Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment |
OMIM:615837 |
| Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
| Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
| Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
| Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
| Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
| Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
| Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
| Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Anonychia With Flexural Pigmentation |
|
Alopecia of scalp, Hyperkeratosis, Abnormal hair morphology, Follicular hyperkeratosis |
ORPHA:69125 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:310490 |
| Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:615522 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
| Moynahan Syndrome |
|
Sensorineural hearing impairment, Hyperkeratosis, Sparse hair, Alopecia |
ORPHA:2574 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:270220 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Nathalie Syndrome |
|
Sensorineural hearing impairment, Arrhythmia |
ORPHA:2663 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Nail dystrophy |
ORPHA:79503 |
| Angioma Serpiginosum, X-Linked |
|
Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy |
OMIM:300652 |
| Parana Hard Skin Syndrome |
|
Generalized hirsutism, Hyperkeratosis, Thickened skin |
ORPHA:2812 |
| Usher Syndrome, Type I |
|
Sensorineural hearing impairment, Absent vestibular function |
OMIM:276900 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sensorineural hearing impairment, Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplant... |
OMIM:602540 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Cardiomyopathy |
OMIM:208750 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Generalized hypotrichosis, Absent pubic hair, Sparse pubic... |
ORPHA:189 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Brittle hair, Tiger tail banding, Follicular hy... |
OMIM:618546 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101900 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety |
OMIM:118700 |
| Keratoderma Hereditarium Mutilans |
|
Sensorineural hearing impairment, Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis... |
ORPHA:494 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Sensorineural hearing impairment, Hearing impairment, Profound sensorineural hearing impairment, ... |
OMIM:619196 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... |
OMIM:616648 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Congenital sensorineural hearing impairment, Leukonychia, Mixed hearing impairment, Palmoplantar ... |
ORPHA:2698 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy |
OMIM:618741 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex... |
OMIM:601952 |
| Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Alopecia, Palmoplantar hyperker... |
ORPHA:79395 |
| Cardiomyopathy, Dilated, 1J |
|
Sensorineural hearing impairment, Abnormal left ventricular function, Sudden cardiac death, Dilat... |
OMIM:605362 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... |
OMIM:614296 |
| Spinocerebellar Ataxia 31 |
|
Sensorineural hearing impairment, Cerebellar atrophy |
OMIM:117210 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Nail dystrophy |
OMIM:212360 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Deafness, Autosomal Dominant 41 |
|
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:608224 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Protruding ear, Absent eyebrow, Supernumerary nipple, Sparse body hair, Follic... |
ORPHA:1809 |
| Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sensorineural hearing impairment |
OMIM:620009 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, ... |
OMIM:615024 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... |
OMIM:613074 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
| Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment |
OMIM:238340 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia of scalp, Progressive sensorineural hearing impairment, Alopecia |
OMIM:136300 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Palmopla... |
OMIM:300918 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Follicular hyperkeratosis, Macrotia, Palmoplantar keratoderma, Congenital bullous ic... |
OMIM:613576 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:617525 |
| Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Tremor, Decreased nerve conduction velocity, Adult onset sensor... |
ORPHA:1368 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1383 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1490 |
| Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
| Erythrokeratodermia Variabilis |
|
Protruding ear, Generalized hirsutism, Alopecia, Patchy palmoplantar hyperkeratosis, Hyperkeratos... |
ORPHA:317 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment |
OMIM:268010 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Hypergranulosis, Palmoplantar hyperkeratosis, Nail dystrophy, Palmoplantar keratode... |
OMIM:148700 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyebrow, Hyperkeratosis, Absent eyelashes, Recurrent otitis media, Nail dystr... |
OMIM:618625 |
| Ramon Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Generalized hirsutism, Hyperkera... |
ORPHA:3019 |
| Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Vestibular hypofunction, Abnormal co... |
ORPHA:231169 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Thickened skin |
OMIM:247100 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hyperkeratosis, Dystrophic toenail, Palmoplantar hyperkeratosis |
ORPHA:89838 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Perioral hyperkerato... |
OMIM:619208 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Spinocerebellar atrophy, Conjunctival telangiectasia, Head tremor, Optic atrophy, Cochlear degene... |
ORPHA:95433 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:1171 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment |
OMIM:608653 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
| Abcd Syndrome |
|
Albinism, White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Total intestinal a... |
OMIM:600501 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Sparse hair, Brittle hair, Coarse hair, Hyperkeratosis |
ORPHA:1883 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment |
OMIM:613076 |
| Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
| Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment |
ORPHA:94064 |
| Porokeratosis 3, Multiple Types |
|
Nail dystrophy, Porokeratosis, Parakeratosis |
OMIM:175900 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231183 |
| Hypotrichosis 6 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis |
OMIM:607903 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking |
OMIM:619191 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Ichthyosis, Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma |
OMIM:607936 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Plantar hyperkeratosis, Epiderm... |
OMIM:104100 |
| Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Brittle hair, Patchy alopecia, Follicular hyperkeratosi... |
ORPHA:573 |
| Peroxisome Biogenesis Disorder 7B |
|
Sensorineural hearing impairment |
OMIM:614873 |
| Monilethrix |
|
Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Perifollicular hyperkeratosis, ... |
OMIM:158000 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... |
OMIM:601596 |
| Epidermolytic Palmoplantar Keratoderma |
|
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Epiderma... |
ORPHA:2199 |
| Siddiqi Syndrome |
|
Sensorineural hearing impairment, Limb dystonia |
OMIM:618635 |
| Acrokeratosis Verruciformis Of Hopf |
|
Leukonychia, Hyperkeratosis, Nail dystrophy, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
ORPHA:79151 |
| Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment |
OMIM:600193 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Deafness, Autosomal Dominant 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:605192 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
| Usher Syndrome, Type Iiia |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:276902 |
| Huntington Disease-Like 2 |
|
Apathy, Bradykinesia, Depression, Anxiety, Irritability |
OMIM:606438 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2027 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy |
ORPHA:85297 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Nail dystrophy |
OMIM:616029 |
| Hypotrichosis Simplex Of The Scalp |
|
Sparse scalp hair, Hyperkeratosis, Fine hair, Slow-growing scalp hair, Parakeratosis, Alopecia of... |
ORPHA:90368 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis |
ORPHA:3406 |
| Lowe-Kohn-Cohen Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2408 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Palmoplantar hyperkerato... |
OMIM:242300 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Woolly hair, Hyperkeratosis, Ichthyosis, Nail dystrophy, Palmoplantar keratoderma, P... |
OMIM:615821 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Brittle hair, Hyperkeratosis, Fine hair |
ORPHA:1573 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Sensorineural hearing impairment, Tremor |
ORPHA:66633 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Congenital sensorineural hearing impairment, Sudden cardiac death, Prolonged ... |
OMIM:220400 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis |
OMIM:604117 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Gingival hyperkeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Circumungual hyperke... |
ORPHA:2200 |
| Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hyperkeratosis, Ichthyosis |
ORPHA:461 |
| Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
| Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis |
ORPHA:498359 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Congen... |
OMIM:602400 |
| Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment |
OMIM:217400 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Hyperkeratosis, Nail dystrophy, Hypoplastic sweat glands |
OMIM:617337 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Palmoplantar keratod... |
OMIM:614594 |
| Bazex Syndrome |
|
Yellow nails, Acanthosis nigricans, Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Par... |
ORPHA:166113 |
| Deafness, Autosomal Recessive 103 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia |
OMIM:616042 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Sensorineural hearing impairment, Hearing impairment, Dystonia |
OMIM:616684 |
| Leopard Syndrome 3 |
|
Sensorineural hearing impairment, Hyperkeratosis, Curly hair, Epidermal hyperkeratosis, Low-set e... |
OMIM:613707 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... |
OMIM:201050 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Palmar hyperkeratosis, Alopecia, Plantar hyperkeratosis, Nail dystrophy, Hyperkeratotic papule |
ORPHA:79397 |
| Bathing Suit Ichthyosis |
|
Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Palmoplantar hyperkerato... |
ORPHA:100976 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:1144 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:617571 |
| Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... |
ORPHA:100084 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Ichthyosis, Orthokeratosis, Hyperkeratosis, Hypergranulosis |
OMIM:613943 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
Sensorineural hearing impairment, EEG abnormality |
ORPHA:3239 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Sensorineural hearing impairment, Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Dystonia |
OMIM:300475 |
| Acquired Ichthyosis |
|
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis |
ORPHA:454 |
| Pityriasis Rubra Pilaris |
|
Orthokeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis |
OMIM:173200 |
| Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
| Deafness, Autosomal Dominant 64 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:616340 |
| Deafness, Autosomal Dominant 36 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:606705 |
| Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
| Deafness, Autosomal Dominant 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
| Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
| Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
| Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment |
OMIM:221700 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized hyperkeratosis, Absen... |
ORPHA:2269 |
| Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Brittle scalp hair, Brittle hair, Follicular hyperkeratosis |
OMIM:262020 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
| Pachyonychia Congenita 1 |
|
Palmoplantar hyperkeratosis, Nail dystrophy, Follicular hyperkeratosis |
OMIM:167200 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:605594 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Congenital nonbullous ichthyosiform erythroderma, Congenital ichthyosiform erythroderma, Alopecia... |
OMIM:242100 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Nail dystrophy |
ORPHA:89843 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
ORPHA:312 |
| Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis |
OMIM:615907 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Sensorineural hearing impairment, Follicular hyperkeratosis |
ORPHA:300179 |
| Pendred Syndrome |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... |
ORPHA:705 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617992 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... |
OMIM:612347 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
| Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse axillary hair, Sparse eyelash... |
OMIM:613102 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Lamellar Ichthyosis |
|
Abnormal helix morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Chronic otitis media, ... |
ORPHA:313 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Sensorineural hearing impairment, Aganglionic megacolon |
ORPHA:2155 |
| Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Sensorineural hearing impairment, Pulmonic stenosis |
OMIM:264140 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Absent brainstem auditory responses, Head titubation, Vestibular areflexia |
ORPHA:3240 |
| Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormone concentration,... |
OMIM:601812 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Cerebral atrophy, Brain atrophy, Optic disc pallor, Abnormal au... |
OMIM:619260 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Palmoplantar keratoderma, Hyperkeratosis, Leukonychia |
OMIM:616295 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Sensorineural hearing impairment, Histidinuria, Cerebral cortical atrophy, Macrotia |
ORPHA:2158 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Optic atrophy, Vertigo, Hearing impairment, Hyperkeratosis |
ORPHA:79279 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Hypertrichosis, Optic atrophy, Hyperkeratosis, Ichthyosis, Low-set ears |
OMIM:612379 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Palmoplantar ke... |
OMIM:612281 |
| Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Short-segment aganglionic megacolon |
OMIM:619465 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Protruding ear, Sparse hair, Hyperkeratosis, Fine hair, Hearing impairment |
ORPHA:1806 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis |
OMIM:148600 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
| Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Orthokeratosis, Sparse hair, Alopecia, Sparse eyelashes, Ichthyosis, Thick hair, Parakeratosis |
OMIM:607626 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Hyperkeratosis, Sparse hair, Alopecia |
ORPHA:1839 |
| Classic Mycosis Fungoides |
|
Hyperkeratosis, Alopecia |
ORPHA:2584 |
| Darier Disease |
|
Acrokeratosis, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Abnormal hair morpho... |
ORPHA:218 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials, He... |
ORPHA:36386 |
| Histidinuria Due To A Renal Tubular Defect |
|
Sensorineural hearing impairment, Histidinuria, Macrotia |
OMIM:235830 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Sensorineural hearing impairment, Acanthosis nigricans, Optic disc pallor, Hyperkeratosis, Ichthy... |
OMIM:618527 |
| Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
| Perrault Syndrome 3 |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment |
OMIM:614129 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
| Björnstad Syndrome |
|
Sensorineural hearing impairment |
ORPHA:123 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Intention tremor, Vestibular areflexia |
ORPHA:504476 |
| Craniometaphyseal Dysplasia |
|
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
| Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... |
ORPHA:52429 |
| Stickler Syndrome, Type V |
|
Sensorineural hearing impairment |
OMIM:614284 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment |
ORPHA:3225 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... |
ORPHA:99027 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Hypergranulosis |
OMIM:615023 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Sparse eyebrow, Sparse eyelashes, Trichiasis, Absent pubic hair... |
OMIM:148210 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Prol... |
ORPHA:206443 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Sparse eyelashes, Alopecia, Ichthyosis, Hyperkeratosis, Hypsarrhythmia |
OMIM:610768 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichth... |
OMIM:606545 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hyperkeratosis, Testicular seminoma, Ichthyosis |
ORPHA:281090 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyebrow, Sparse eyelashes, Follicular hyperkeratosis, Nail dystrophy, Dystrophic fingernai... |
OMIM:308800 |
| Ichthyosis Prematurity Syndrome |
|
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis |
OMIM:608649 |
| Harlequin Ichthyosis |
|
Hearing abnormality, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma |
ORPHA:457 |
| Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Sensorineural hearing impairment |
OMIM:267300 |
| Prolidase Deficiency |
|
Hirsutism, Generalized hirsutism, Abnormality of the middle ear, Low anterior hairline, Hyperkera... |
ORPHA:742 |
| Pachyonychia Congenita |
|
Palmar hyperkeratosis, Alopecia, Linear arrays of macular hyperkeratoses in flexural areas, Folli... |
ORPHA:2309 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Sparse hair, Acantholysis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:615508 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal antihelix morphology, Abnormal helix morphology, Sparse hair, Alopecia, Low-set, posteri... |
ORPHA:1005 |
| Lichen Planopilaris |
|
Hyperkeratosis, Alopecia |
ORPHA:525 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair |
OMIM:615279 |
| Sjögren-Larsson Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:816 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
| Paragangliomas 1 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... |
OMIM:168000 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Follicular hyperkeratosis |
OMIM:615225 |
| Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
| Sialidosis Type 1 |
|
Sensorineural hearing impairment, Hyperkeratosis, Decreased nerve conduction velocity, EEG abnorm... |
ORPHA:812 |
| Noonan Syndrome 8 |
|
Low-set ears, Hyperkeratosis, Curly hair, Cryptorchidism |
OMIM:615355 |
| Perrault Syndrome 2 |
|
Sensorineural hearing impairment |
OMIM:614926 |
| Heimler Syndrome 1 |
|
Sensorineural hearing impairment |
OMIM:234580 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Sensorineural hearing impairment, Cerebral atrophy, Decreased sensory nerve conduction velocity, ... |
OMIM:616192 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... |
OMIM:609136 |
| Paragangliomas 3 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Ad... |
OMIM:605373 |
| Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Hyperkeratosis |
ORPHA:2611 |
| Netherton Syndrome |
|
Sparse scalp hair, Congenital nonbullous ichthyosiform erythroderma, Brittle hair, Sparse eyebrow... |
OMIM:256500 |
| Mednik Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:171851 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Sensorineural hearing impairment, Tachycardia |
OMIM:221400 |
| Usher Syndrome, Type Ig |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:606943 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Parak... |
OMIM:604777 |
| Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin, Alopecia of scalp |
ORPHA:530 |
| Trichothiodystrophy 1, Photosensitive |
|
Pili torti, Protruding ear, Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Brittl... |
OMIM:601675 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Optic atrophy, Diffuse cerebral atrophy, Heari... |
ORPHA:206436 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
| Donohue Syndrome |
|
Hypertrichosis, Ovarian cyst, Acanthosis nigricans, Hyperkeratosis, Macrotia, Low-set ears |
OMIM:246200 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Fine hair |
ORPHA:1028 |
| Irida Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
| Naxos Disease |
|
Woolly hair, Sparse eyebrow, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Subungual hyp... |
OMIM:601214 |
| Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Orthokeratosis, Sparse eyebrow, Short nail, Sparse body hair, Plantar hyperker... |
OMIM:257980 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Hyperkeratosis, Albinism, Thickened skin |
ORPHA:79431 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Chilblain Lupus |
|
Hyperkeratosis |
ORPHA:90280 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials |
OMIM:193700 |
| Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
| Collagenoma, Familial Cutaneous |
|
Sensorineural hearing impairment, Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasc... |
OMIM:115250 |
| Costello Syndrome |
|
Large earlobe, Woolly hair, Acanthosis nigricans, Low-set, posteriorly rotated ears, Hyperkeratos... |
ORPHA:3071 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Bone Marrow Failure Syndrome 3 |
|
Cryptorchidism, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Cupped ear, Hyperkeratosis, Nail ... |
OMIM:617052 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Hypokalemic Tubulopathy And Deafness |
|
Sensorineural hearing impairment |
OMIM:619406 |
| Pachyonychia Congenita 3 |
|
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Nail dystrophy, Palmopl... |
OMIM:615726 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Cardiofaciocutaneous Syndrome |
|
EEG abnormality, Sparse hair, Brittle hair, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair,... |
ORPHA:1340 |
| Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... |
ORPHA:1435 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Ichthyosis, Hyperkeratosis |
OMIM:614457 |
| Poikiloderma With Neutropenia |
|
Sparse eyebrow, Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Recurrent otitis media, P... |
OMIM:604173 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Tremor, Macrotia, Abnormality of peripheral n... |
ORPHA:90321 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis |
OMIM:617066 |
| Congenital Disorder Of Glycosylation, Type If |
|
Optic atrophy, Hyperkeratosis |
OMIM:609180 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Cryptorchidism, Absent eyebrow, Alopecia, Follicular hyperkeratosis, Absent eyelashes, Nail dystr... |
OMIM:308205 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
| Incontinentia Pigmenti |
|
Sparse hair, Supernumerary nipple, Alopecia, Coarse hair, Atrophic, patchy alopecia, Hypoplastic ... |
OMIM:308300 |
| Lymphatic Malformation 12 |
|
Hydrocele testis, Hyperkeratosis |
OMIM:620014 |
| Ramon Syndrome |
|
Optic disc pallor, Hearing impairment, Hyperkeratosis, Hypertrichosis |
OMIM:266270 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Breast aplasia, ... |
ORPHA:238468 |
| Familial Keratoacanthoma |
|
Adenoma sebaceum, Hyperkeratosis |
ORPHA:493 |
| Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, Optic atrophy |
ORPHA:79330 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis |
ORPHA:254478 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Cryptorchidism, Follicular hyperkeratosis |
ORPHA:486815 |
| Popov-Chang syndrome |
|
Coarse hair, Hyperkeratosis, Recurrent otitis media |
OMIM:618428 |
| Cardiofaciocutaneous Syndrome 1 |
|
Large earlobe, Low-set ears, Absent eyebrow, Sparse hair, Optic nerve dysplasia, Hyperkeratosis, ... |
OMIM:115150 |
| Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Orthostatic hypotension, Hearing impairment, Hyperkeratosis, High anterior hairline |
OMIM:615510 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Trisomy 10P |
|
EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... |
ORPHA:171929 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Tinnitus, Vertigo, Hearing impairment, Hyperkeratosis |
ORPHA:79280 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Low-set ears, Hyperkeratosis |
ORPHA:163966 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Orthokeratosis, Alopecia, Hyperkeratosis, Thyroid hypoplasia, Hearing impairment, Congenital icht... |
OMIM:308050 |
| Porokeratosis |
|
Hyperkeratosis |
ORPHA:79358 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Orthokeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Hyperkeratotic papule, Palmoplantar ... |
ORPHA:79501 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Sclerodactyly, Nail dystrophy, Decreased testicular size, Palmoplantar keratoderma, Orthokeratoti... |
OMIM:610644 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Broad eyebrow, Hyperkeratosis, Frontal upsweep of hair |
OMIM:301220 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Coarse hair, Hyperkeratosis with erythema, Sparse hair |
OMIM:118650 |
| Nephropathy, Deafness, And Hyperparathyroidism |
|
Sensorineural hearing impairment |
OMIM:256120 |
| Milroy Disease |
|
Hydrocele testis, Hyperkeratosis |
ORPHA:79452 |
| Werner Syndrome |
|
Pili torti, Sparse scalp hair, Ovarian neoplasm, Abnormal hair whorl, Aplasia/Hypoplasia of the t... |
ORPHA:902 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:216400 |
| Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... |
ORPHA:909 |
| Psoriasis 14, Pustular |
|
Nail dystrophy, Parakeratosis |
OMIM:614204 |
| Eec Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear, Thick eyebrow, Sparse eyebrow, D... |
ORPHA:1896 |
| Vulvovaginal Gingival Syndrome |
|
Parakeratosis |
ORPHA:83453 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:133540 |
| Xeroderma Pigmentosum |
|
Sensorineural hearing impairment, EEG abnormality, Cryptorchidism, Alopecia, Optic atrophy, Hyper... |
ORPHA:910 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Sparse scalp hair, Sparse hair, Cryptorchidism, Loose anagen hair, Hyperkeratosis, Long eyelashes... |
OMIM:607721 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Hyperkeratosis |
OMIM:614576 |
| Chromomycosis |
|
Hyperkeratotic papule, Hyperkeratosis, Hyperparakeratosis |
ORPHA:182 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Hydrocele testis, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Alopecia, Absent eyelashes... |
OMIM:137940 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Hyperkeratosis |
ORPHA:79145 |
| Noonan Syndrome 2 |
|
Cryptorchidism, Sparse eyebrow, Hyperkeratosis, Curly hair, Low-set ears, Posteriorly rotated ear... |
OMIM:605275 |
| Fucosidosis |
|
Hearing impairment, Generalized hyperkeratosis |
ORPHA:349 |
| Noonan Syndrome 10 |
|
Cryptorchidism, Sparse eyebrow, Hyperkeratosis, Low-set ears, Curly hair |
OMIM:616564 |
| Chime Syndrome |
|
Sparse hair, Hyperkeratosis, Ichthyosis, Fine hair, Abnormality of the outer ear, Hearing impairment |
ORPHA:3474 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Facial palsy, Protruding ear, Follicular hyperkeratosis |
OMIM:254090 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis |
ORPHA:158681 |
| Neonatal Lupus Erythematosus |
|
Hyperkeratosis, Parakeratosis |
ORPHA:398124 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Fair hair, Cryptorchidism, Sparse eyebrow, Facial hirsutism, Microtia, Absence... |
OMIM:604292 |
| Gaucher Disease, Perinatal Lethal |
|
Congenital nonbullous ichthyosiform erythroderma, Microtia, Ichthyosis, Hyperkeratosis, Low-set ears |
OMIM:608013 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epidermal thickening, Abnormality of hair texture, Thick eyebrow, EEG abnormality, Synophrys, Hyp... |
ORPHA:73223 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Trichiasis, Hyperkeratosis, Absent eyebrow, Trichodysplasia |
OMIM:601701 |
| Mend Syndrome |
|
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials |
ORPHA:401973 |
| Kid Syndrome |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Follicular hyperkeratosis, Prelingual sensorineura... |
ORPHA:477 |
| Incontinentia Pigmenti |
|
Supernumerary nipple, Alopecia, Hearing abnormality, Hyperkeratosis, Dystrophic toenail, Abnormal... |
ORPHA:464 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Conductive hearing impairment, Fair hair, Sparse hair, Sparse eyebrow, Microti... |
OMIM:129900 |
| Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis |
OMIM:133190 |
| Kanzaki Disease |
|
Sensorineural hearing impairment, Vertigo, Hyperkeratosis |
OMIM:609242 |
| Autosomal Dominant Cerebellar Ataxia |
|
Sensorineural hearing impairment, Hyperkeratosis |
ORPHA:99 |
| De Sanctis-Cacchione Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Bilateral cryptorchidism, Parakeratosis |
OMIM:278800 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Protruding ear, EEG abnormality, Fair hair, Cryptorchidism, Decreased response to growth hormone ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Protruding ear, EEG abnormality, Fair hair, Cryptorchidism, Decreased response to growth hormone ... |
ORPHA:363958 |
| Hermansky-Pudlak Syndrome |
|
Long eyelashes, Hypopigmentation of hair, Hyperkeratosis, Thickened skin |
ORPHA:79430 |
| Leprosy |
|
Abnormality of the seventh cranial nerve, Absent eyebrow, Abnormal autonomic nervous system physi... |
ORPHA:548 |
| Juvenile Idiopathic Arthritis |
|
Generalized hyperkeratosis, Thickened skin |
ORPHA:92 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis |
ORPHA:64745 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Parakeratosis |
ORPHA:284426 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Palmoplantar hyperkeratosis, Follicular hyperkeratosis |
OMIM:617388 |
| Leprechaunism |
|
Hypertrichosis, Protruding ear, Acanthosis nigricans, Facial hypertrichosis, Enlarged ovaries, Hy... |
ORPHA:508 |
| 6Q Terminal Deletion Syndrome |
|
Low anterior hairline, Low-set, posteriorly rotated ears, Hyperkeratosis, Hypsarrhythmia, Highly ... |
ORPHA:75857 |
| Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hyperkeratosis |
OMIM:612852 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... |
OMIM:614557 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Follicular hyperke... |
ORPHA:536545 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Hyperparakeratosis, Ovarian serous cystadenoma, Microtia |
ORPHA:276280 |
| Reactive Arthritis |
|
Hyperkeratosis, Dystrophic fingernails |
ORPHA:29207 |
| Clouston Syndrome |
|
Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Palmoplantar hyperke... |
OMIM:129500 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Abnormal pinna morphology, Cryptorchidism, Sparse eyebrow, Microtia, Sparse ey... |
OMIM:210710 |
| Fabry Disease |
|
Sensorineural hearing impairment, O |
