|
|
Alopecia Congenita Keratosis Palmoplantaris +
aminoglycoside-induced deafness
Ataxia, Deafness, and Cardiomyopathy
Athabaskan brainstem dysgenesis syndrome
Auditory Neuropathy, Nonsyndromic Recessive
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant nonsyndromic deafness +
autosomal recessive congenital ichthyosis +
autosomal recessive nonsyndromic deafness +
autosomal recessive spinocerebellar ataxia 19
autosomal-mitochondrial sensorineural deafness
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Boudhina Yedes Khiari syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brown-Vialetto-Van Laere syndrome +
bullous congenital ichthyosiform erythroderma
Camptodactyly-Ichthyosis Syndrome
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
Cataract and Congenital Ichthyosis
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease X-linked recessive 4
Chitty Hall Baraitser Syndrome
Chudley-Mccullough syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Combined Pituitary Hormone Deficiency, 3
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Deafness with Total Albinism
Congenital Ectodermal Dysplasia with Hearing Loss
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Ichthyosis with Trichothiodystrophy +
corneal dystrophy-perceptive deafness syndrome
Corneodermatoosseous Syndrome
craniofacial-deafness-hand syndrome
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Deafness, Progressive High-Tone Neural
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
Deal Barratt Dillon Syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diffuse Palmoplantar Keratoderma +
dilated cardiomyopathy 1J
distal arthrogryposis type 6
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness
Distal Renal Tubular Acidosis 3, Autosomal Recessive
dominant optic atrophy plus syndrome
Dykes Markes Harper Syndrome
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
epidermolytic hyperkeratosis +
Familial Visceral Neuropathy 2, Autosomal Recessive
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Focal Palmoplantar and Gingival Keratosis
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Hearing Loss, Cisplatin-Induced
Hearing Loss, Noise-Induced
Hearing Loss, Unilateral Sensorineural
high myopia-sensorineural deafness syndrome
High-Frequency Hearing Loss +
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
Homozygous 11p15-p14 Deletion Syndrome
Hyperkeratosis-Hyperpigmentation Syndrome
hypoparathyroidism-deafness-renal disease syndrome
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Prematurity Syndrome
Ichthyosis Tapered Fingers Midline Groove Up
Ichthyosis with Erythrokeratoderma
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
Ichthyosis, Spastic Quadriplegia, and Mental Retardation
Ichthyosis, Split Hairs, and Amino Aciduria
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
inflammatory poikiloderma with hair abnormalities and acral keratoses
Insulin-Like Growth Factor I Deficiency
Jagell Holmgren Hofer Syndrome
Johanson-Blizzard syndrome
Judge Misch Wright Syndrome
Keratitis-Ichthyosis-Deafness Syndrome +
Keratoderma Palmoplantaris Transgrediens
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive A disease characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Caused by homozygous or compound heterozygous mutation in the VPS33B gene on chromosome 15q26.
Keratosis Palmaris et Plantaris with Clinodactyly
keratosis palmoplantaris striata +
keratosis pilaris atrophicans +
Koone Rizzo Elias Syndrome
Lamellar Ichthyosis, Autosomal Dominant Form
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
mutilating palmoplantar keratoderma with periorificial keratotic plaques +
Naegeli-Franceschetti-Jadassohn syndrome
Nephropathy, Deafness, and Hyperparathyroidism
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
nonepidermolytic palmoplantar keratoderma +
Nonsyndromic Sensorineural Hearing Loss +
ocular albinism with sensorineural deafness
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Osteosclerosis with Ichthyosis and Fractures
Otofacioosseous-Gonadal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
Palmoplantar Hyperkeratosis and True Hermaphroditism
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR +
Palmoplantar Keratoderma, Nagashima Type
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar Keratoderma, Spastic Paralysis
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
Papillon-Lefevre disease +
Paragangliomas with Sensorineural Hearing Loss
Pfeiffer Kapferer Syndrome
Pigmentary Retinopathy and Sensorineural Deafness
Porokeratosis 2, Palmar, Plantar, and Disseminated Type
Powell Venencie Gordon syndrome
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
Progressive Nephropathy with Deafness
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
punctate palmoplantar keratoderma +
Retinitis Pigmentosa Inversa with Deafness
Robinson Miller Bensimon Syndrome
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
Ruzicka Goerz Anton syndrome
Sammartino De Crecchio Syndrome
Schaap Taylor Baraitser Syndrome
Schopf-Schulz-Passarge syndrome
Sensorineural Deafness and Male Infertility
Sensorineural Deafness and Migraine
Sensorineural Deafness with Hypertrophic Cardiomyopathy
Sensorineural Deafness with Mild Renal Dysfunction
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth
Sjogren-Larsson syndrome +
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
split hand-foot malformation 1 with sensorineural hearing loss
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Stern Lubinsky Durrie Syndrome
thiamine-responsive megaloblastic anemia syndrome
Treft Sanborn Carey Syndrome
Trichodysplasia-Xeroderma
Tunglang Savage Bellman Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Wolfram syndrome, mitochondrial form
X-linked nonsyndromic deafness +
|
|
