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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
Alpha-B Crystallinopathy with Cataract
aminoglycoside-induced deafness
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Ataxia, Deafness, and Cardiomyopathy
Ataxia-Microcephaly-Cataract Syndrome
Athabaskan brainstem dysgenesis syndrome
Auditory Neuropathy, Nonsyndromic Recessive
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant nonsyndromic deafness +
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
autosomal recessive nonsyndromic deafness +
autosomal recessive spinocerebellar ataxia 19
autosomal-mitochondrial sensorineural deafness
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Bhaskar Jagannathan Syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brown-Vialetto-Van Laere syndrome +
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 13 with adult i phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 19 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 26 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 34 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 46 juvenile-onset
cataract 5 multiple types
Cataract 50 with or without Glaucoma
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataract and Congenital Ichthyosis
Cataract Microcornea Syndrome
Cataract, Age-Related Nuclear
Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Recessive Congenital 1
Cataract, Congenital Dominant Non Nuclear
Cataract, Cortical Pulverulent, Late-Onset
Cataract, Crystalline Coralliform
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataract, Polymorphic and Lamellar
Cataract, Posterior Polar, 5
Cataract, Progressive Polymorphic Cortical
Cataract, Sutural, with Punctate and Cerulean Opacities
Cataract, Variable Zonular Pulverulent
Cataract, Zonular Central Nuclear
Cataracts, Ataxia, Short Stature, and Mental Retardation
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
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 Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Deafness with Total Albinism
Congenital Ectodermal Dysplasia with Hearing Loss
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
congenital muscular dystrophy with cataracts and intellectual disability
Cornea Guttata with Anterior Polar Cataract
corneal dystrophy-perceptive deafness syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
craniofacial-deafness-hand syndrome
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness, Progressive High-Tone Neural
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dilated cardiomyopathy 1J
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
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
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
Familial Partial Lipodystrophy Type 7
Familial Visceral Neuropathy 2, Autosomal Recessive
Fitzsimmons Walson Mellor Syndrome
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Hearing Loss, Cisplatin-Induced
Hearing Loss, Noise-Induced
Hearing Loss, Unilateral Sensorineural
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
hereditary spastic paraplegia 9A
High Myopia with Cataract and Vitreoretinal Degeneration
high myopia-sensorineural deafness syndrome
High-Frequency Hearing Loss +
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
Homozygous 11p15-p14 Deletion Syndrome
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
Hypertrophic Neuropathy and Cataract
hypomyelinating leukodystrophy 5
hypoparathyroidism-deafness-renal disease syndrome
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
Insulin-Like Growth Factor I Deficiency
Isolated Microphthalmia with Cataract 1
Isolated Microphthalmia with Cataract 2
Isolated Microphthalmia with Cataract 3
Isolated Microphthalmia with Cataract 4
ITM2B-related cerebral amyloid angiopathy 2
Johanson-Blizzard syndrome
Karandikar Maria Kamble Syndrome
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Kozlowski Rafinski Klicharska Syndrome
Leg, Absence Deformity of, with Congenital Cataract
Marinesco-Sjogren syndrome
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1
Microphthalmia, Cataracts, and Iris Abnormalities
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mousa Al din Al Nassar Syndrome
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
Myopathy, Cataract, Hypogonadism Syndrome
Nephropathy, Deafness, and Hyperparathyroidism
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
Nonsyndromic Sensorineural Hearing Loss +
ocular albinism with sensorineural deafness
Oculoskeletodental Syndrome
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Otofacioosseous-Gonadal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
palmoplantar keratoderma and congenital alopecia 2
palmoplantar keratoderma-deafness syndrome
Paragangliomas with Sensorineural Hearing Loss
Pavone Fiumara Rizzo Syndrome
Peters Anomaly with Cataract
Pfeiffer Kapferer Syndrome
Pigmentary Retinopathy and Sensorineural Deafness
Polycystic Kidney, Cataract, and Congenital Blindness
Premature Aging, Okamoto Type
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
Remitting Chorea with Nystagmus and Cataracts
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinitis Pigmentosa Inversa with Deafness
Robinson Miller Bensimon Syndrome
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
Schaap Taylor Baraitser 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
Singh Chhaparwal Dhanda Syndrome
Slavotinek Pike Mills Hurst Syndrome
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
split hand-foot malformation 1 with sensorineural hearing loss
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Spondyloocular Syndrome, Autosomal Recessive
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
syndromic microphthalmia 2
thiamine-responsive megaloblastic anemia syndrome
Treft Sanborn Carey Syndrome
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Tunglang Savage Bellman Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Wellesley Carmen French Syndrome
Wolfram syndrome, mitochondrial form
X-linked nonsyndromic deafness +
Zonular Cataract and Nystagmus
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