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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
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
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 This disease is an autosomal dominant disorder characterized by spastic paraparesis and bilateral congenital/juvenile cataracts.
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
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
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
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
developmental delay, hypotonia, and impaired language
Developmental Delay, Language Impairment, and Ocular Abnormalities
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Familial Partial Lipodystrophy Type 7
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
guanidinoacetate methyltransferase deficiency
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
hereditary spastic paraplegia 9A
High Myopia with Cataract and Vitreoretinal Degeneration
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
Intellectual Developmental Disorder with Autism and Speech Delay
intellectual developmental disorder with autistic features and language delay, with or without seizures
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
Intellectual Developmental Disorder with Seizures and Language Delay
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
intellectual disability-severe speech delay-mild dysmorphism syndrome
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
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
Leg, Absence Deformity of, with Congenital Cataract
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
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
Multiple Exostoses with Spastic Tetraparesis
Myopathy, Cataract, Hypogonadism Syndrome
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
neurodevelopmental disorder with language delay and seizures
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
Neurodevelopmental Disorder with Speech Impairment and with or without Seizures
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
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
Snijders Blok-Campeau Syndrome
Spastic Paresis, Glaucoma, and Mental Retardation
specific language impairment +
speech-language disorder-1
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 2
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
tropical spastic paraparesis
Wellesley Carmen French Syndrome
Zonular Cataract and Nystagmus
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