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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
Alpha-B Crystallinopathy with Cataract
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Ataxia-Microcephaly-Cataract Syndrome
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Bhaskar Jagannathan Syndrome
Bothnia retinal dystrophy
Boucher-Neuhauser syndrome
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis
Calloso-Genital Dysplasia
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
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Coloboma of Alar-Nasal Cartilages with Telecanthus
Coloboma of Macula and Skeletal Anomalies
Coloboma of Macula with Type B Brachydactyly
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
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
Cornea Guttata with Anterior Polar Cataract
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
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
dominant pericentral pigmentary retinopathy
dystrophies primarily involving the retinal pigment epithelium +
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Familial Partial Lipodystrophy Type 7
Ghose Sachdev Kumar 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 Macular Coloboma
hereditary retinal dystrophy +
hereditary spastic paraplegia 9A
High Myopia with Cataract and Vitreoretinal Degeneration
Hittner Hirsch Kreh Syndrome
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
Hypertrophic Neuropathy and Cataract
hypomyelinating leukodystrophy 5
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
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
Isolated Microphthalmia with Coloboma +
ITM2B-related cerebral amyloid angiopathy 2
Karandikar Maria Kamble Syndrome
Kozlowski Rafinski Klicharska Syndrome
Leg, Absence Deformity of, with Congenital Cataract
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Marinesco-Sjogren syndrome
Marles Greenberg Persaud Syndrome
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
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 and Mental Deficiency
Microphthalmia Associated with Colobomatous Cyst
Microphthalmia, Cataracts, and Iris Abnormalities
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mousa Al din Al Nassar Syndrome
Myoectodermal Gonadal Dysgenesis Syndrome
Myopathy, Cataract, Hypogonadism Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
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
Oculoskeletodental Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
palmoplantar keratoderma and congenital alopecia 2
Pavone Fiumara Rizzo Syndrome
Peters Anomaly with Cataract
Polycystic Kidney, Cataract, and Congenital Blindness
Premature Aging, Okamoto Type
Pseudoinflammatory Fundus Dystrophy, Finnish Type
Remitting Chorea with Nystagmus and Cataracts
Reticular Dystrophy of Retinal Pigment Epithelium
Reticular Pigmentary Retinal Dystrophy of Posterior Pole
retinal dystrophies primarily involving Bruch's membrane
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy and Microvillus Inclusion Disease
Retinal Dystrophy and Obesity
retinal dystrophy in systemic or cerebroretinal lipidoses
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
Retinal Dystrophy with or without Macular Staphyloma
Retinal Dystrophy, Early Onset Severe +
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome
Schaap Taylor Baraitser Syndrome
Singh Chhaparwal Dhanda Syndrome
Slavotinek Pike Mills Hurst Syndrome
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
Spondyloocular Syndrome, Autosomal Recessive
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
syndromic microphthalmia 14
syndromic microphthalmia 2
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
uveal coloboma-cleft lip and palate-intellectual disability
Wellesley Carmen French Syndrome
Zonular Cataract and Nystagmus
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