|
|
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
Abetalipoproteinemia Neuropathy
Accessory Deep Peroneal Nerve
adult-onset ataxia and polyneuropathy
agenesis of the corpus callosum with peripheral neuropathy
Alpha-B Crystallinopathy with Cataract
aminoglycoside-induced deafness
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
Apical Hypertrophic Cardiomyopathy and Neuropathy
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation
Ataxia with Fasciculations
Ataxia with Myoclonic Epilepsy and Presenile Dementia
Ataxia, Deafness, and Cardiomyopathy
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Ataxia-Microcephaly-Cataract Syndrome
Ataxia-Oculomotor Apraxia 4
Athabaskan brainstem dysgenesis syndrome
Atonic-Astatic Syndrome of Foerster
Auditory Neuropathy, Nonsyndromic Recessive
autoimmune disease of peripheral nervous system +
autonomic nervous system disease +
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
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia
Bhaskar Jagannathan Syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brown-Vialetto-Van Laere syndrome +
Carnitine Acetyltransferase Deficiency
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 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, SPASTIC PARAPARESIS, AND SPEECH DELAY
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease X-linked recessive 4
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
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
coenzyme Q10 deficiency disease +
Combined Pituitary Hormone Deficiency, 3
complex regional pain syndrome +
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
Congenital Myopathy with Neuropathy and Deafness
Congenital Pain Insensitivity +
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 Hyperuricemia Neurologic Ataxia
Deafness Oligodontia Syndrome
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
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
Erythrokeratodermia with Ataxia
familial isolated deficiency of vitamin E
Fitzsimmons Walson Mellor Syndrome
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Gamstorp-Wohlfart syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Gonadal Dysgenesis, XX Type, with Deafness +
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Hand-Arm Vibration Syndrome
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
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
hypoparathyroidism-deafness-renal disease syndrome
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
Inherited Peripheral Neuropathy +
Insulin-Like Growth Factor I Deficiency
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
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
Kozlowski Rafinski Klicharska Syndrome
Leg, Absence Deformity of, with Congenital Cataract
Leukoencephalopathy with Ataxia
Lipodystrophy with Congenital Cataracts and Neurodegeneration
lumbosacral plexus lesion
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 DNA depletion syndrome 6
Mitochondrial Myopathy, and Ataxia
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mousa Al din Al Nassar Syndrome
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
Myopathy, Cataract, Hypogonadism Syndrome
Nephropathy Deafness Hyperparathyroidism
nerve compression syndrome +
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
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 +
O'Donnell Pappas Syndrome
ocular albinism with sensorineural deafness
Oculoskeletodental Syndrome
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
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
Peripheral Nerve Injuries
peripheral nervous system neoplasm +
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Peters Anomaly with Cataract
Pfeiffer Kapferer Syndrome
Pigmentary Retinopathy and Sensorineural Deafness
Polycystic Kidney, Cataract, and Congenital Blindness
Posterior Column Ataxia with Retinitis Pigmentosa
Premature Aging, Okamoto Type
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
progressive myoclonus epilepsy 1B
Progressive Nephropathy with Deafness
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Reardon Wilson Cavanagh Syndrome
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
Sensory Ataxia, Autosomal Dominant
Singh Chhaparwal Dhanda Syndrome
Slavotinek Pike Mills Hurst Syndrome
Spastic Ataxia with Congenital Miosis
Spastic Paraplegia, Ataxia, and Mental Retardation
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy
Spinocerebellar Ataxias +
split hand-foot malformation 1 with sensorineural hearing loss
spondyloepimetaphyseal dysplasia, Genevieve-type
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
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic microphthalmia 2
Tapetoretinal Degeneration with Ataxia
thiamine-responsive megaloblastic anemia syndrome
Treft Sanborn Carey Syndrome
Tremor of Intention, Ataxia, and Lipofuscinosis
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Tryptophanuria with Dwarfism
Tunglang Savage Bellman Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE
Wellesley Carmen French Syndrome
Wolfram syndrome, mitochondrial form
X-linked nonsyndromic deafness +
Zonular Cataract and Nystagmus
|
|
