|
|
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
alpha-2-plasmin inhibitor deficiency
Alpha-B Crystallinopathy with Cataract
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
Aortic Valve, Calcification of
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 Brett Piesowicz Syndrome
basal ganglia calcification +
Bernard-Soulier syndrome +
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification
Bhaskar Jagannathan Syndrome
Calcific Aortic Disease with Immunologic Abnormalities, Familial
Calcification of Joints and Arteries +
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 Congenital Dominant Non Nuclear
Cataract Microcornea Syndrome
Cataract, Age-Related Nuclear
Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Recessive Congenital 1
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
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 4
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Choroid Plexus Calcification with Mental Retardation
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
congenital afibrinogenemia +
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
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
diffuse idiopathic skeletal hyperostosis +
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
disseminated intravascular coagulation +
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epilepsy, Occipital Calcifications
essential thrombocythemia
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Familial Hemorrhagic Diathesis due to Antithrombin
Fatal Fetal Cardiomyopathy due to Myocardial Calcification
Glanzmann's thrombasthenia +
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 spastic paraplegia 9A
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
hyperphosphatemic familial tumoral calcinosis +
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
Juvenile Cataract, with Microcornea and Glucosuria
Karandikar Maria Kamble Syndrome
Kozlowski Rafinski Klicharska Syndrome
Leg, Absence Deformity of, with Congenital Cataract
Lipodystrophy with Congenital Cataracts and Neurodegeneration
Marinesco-Sjogren syndrome
Medial Coronary Sclerosis of Infancy
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
Microphthalmia, Cataracts, and Iris Abnormalities
Microphthalmia, Syndromic 2
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mousa Al din Al Nassar Syndrome
Myopathy, Cataract, Hypogonadism Syndrome
Myopia, High, with Cataract and Vitreoretinal Degeneration
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
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
normophosphatemic familial tumoral calcinosis
O'Donnell Pappas Syndrome
Oculoskeletodental Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
palmoplantar keratoderma and congenital alopecia 2
Pavone Fiumara Rizzo Syndrome
Peters Anomaly with Cataract
Piepkorn Karp Hickok syndrome
Plasminogen Activator Inhibitor-1 Deficiency
platelet storage pool deficiency +
Polycystic Kidney, Cataract, and Congenital Blindness
Premature Aging, Okamoto Type
pulmonary alveolar microlithiasis
Renal Hypophosphatemia with Intracerebral Calcifications
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Schaap Taylor Baraitser Syndrome
Schofer Beetz Bohl Syndrome
Sclerosing Osteomalacia with Cerebral Calcification
Singh Chhaparwal Dhanda Syndrome
Slavotinek Pike Mills Hurst Syndrome
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
Spondyloocular Syndrome, Autosomal Recessive
Tropical Calcific Pancreatitis
vascular hemostatic disease +
vitamin K deficiency bleeding
von Willebrand's disease +
Waterhouse-Friderichsen syndrome +
Wellesley Carmen French Syndrome
Whyte Murphy Fallon Sly syndrome
Wiskott-Aldrich syndrome +
Zonular Cataract and Nystagmus
|
|
