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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
Alpha-B Crystallinopathy with Cataract
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Ataxia-Microcephaly-Cataract Syndrome
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Bhaskar Jagannathan 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
Cerebrocortical Degeneration of Infancy
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
childhood spinal muscular atrophy +
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
congenital muscular dystrophy with cataracts and intellectual disability
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
Cornea Guttata with Anterior Polar Cataract
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Dystonia Musculorum Deformans +
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Familial Amyloid Polyneuropathies +
familial encephalopathy with neuroserpin inclusion bodies
familial partial lipodystrophy type 1
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial partial lipodystrophy type 5
familial partial lipodystrophy type 6
Familial Partial Lipodystrophy Type 7
Familial Partial Lipodystrophy Type 8
Familial Partial Lipodystrophy Type 9
Gerstmann-Straussler-Scheinker syndrome
Gilles de la Tourette syndrome +
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Optic Atrophies +
hereditary sensory neuropathy +
hereditary spastic paraplegia 9A
High Myopia with Cataract and Vitreoretinal Degeneration
Huntington's disease-like 2
Huntington's Disease-Like Syndrome
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
Hypertrophic Neuropathy and Cataract
hypomyelinating leukodystrophy 5
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
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
Karandikar Maria Kamble Syndrome
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 DNA depletion syndrome 6
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
motor peripheral neuropathy +
Mousa Al din Al Nassar Syndrome
Myopathy, Cataract, Hypogonadism Syndrome
myotonic dystrophy type 1 +
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
neurogenic scapuloperoneal syndrome Kaeser type
neuronal ceroid lipofuscinosis +
Oculoskeletodental Syndrome
Opticocochleodentate Degeneration
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
palmoplantar keratoderma and congenital alopecia 2
pantothenate kinase-associated neurodegeneration
Pavone Fiumara Rizzo Syndrome
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Peters Anomaly with Cataract
Polycystic Kidney, Cataract, and Congenital Blindness
Premature Aging, Okamoto Type
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
primary cerebellar degeneration +
Progressive Psychomotor Deterioration
Remitting Chorea with Nystagmus and Cataracts
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Schaap-Taylor-Baraitser Syndrome
Singh Chhaparwal Dhanda Syndrome
Slavotinek Pike Mills Hurst Syndrome
spinal muscular atrophy with lower extremity predominant +
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
Spondyloocular Syndrome, Autosomal Recessive
Spongiform Encephalopathy with Neuropsychiatric Features
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
syndromic microphthalmia 10
syndromic microphthalmia 2
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Unverricht-Lundborg syndrome +
Wellesley Carmen French Syndrome
X-Linked Intellectual Developmental Disorders +
Zonular Cataract and Nystagmus
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