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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
ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
arthrogryposis multiplex congenita +
Ataxia, Deafness, and Cardiomyopathy
Ataxia-Microcephaly-Cataract Syndrome
Atrial Dilation and Standstill +
autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
Axial Myopathy, Late-Onset +
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Bhaskar Jagannathan Syndrome
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
Cardiomyopathy Associated with Myopathy and Sudden Death
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
Carey-Fineman-Ziter 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
central pontine myelinolysis
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Chanarin-Dorfman syndrome +
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 Myopathy with Neuropathy and Deafness
Congenital Universal Muscular Hypoplasia of Krabbe
Cornea Guttata with Anterior Polar Cataract
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniomandibular Disorders +
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Diabetic Cardiomyopathies
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Ehlers-Danlos syndrome kyphoscoliotic type 2
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
endocardial fibroelastosis +
eosinophilia-myalgia syndrome
Erythrocyte Amp Deaminase Deficiency
Erythrocyte Lactate Transporter Defect
extrinsic cardiomyopathy +
Familial Cardiac Lipidosis
Familial Partial Lipodystrophy Type 7
familial periodic paralysis +
Fatal Fetal Cardiomyopathy due to Myocardial Calcification
Fingerprint Body Myopathy
Gamstorp-Wohlfart syndrome
Granulovacuolar Lobular Myopathy with Electrical Myotonia
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 Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
hereditary spastic paraplegia 9A
High Myopia with Cataract and Vitreoretinal Degeneration
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperferritinemia-cataract syndrome
Hypertaurinuric Cardiomyopathy
Hypertrophia Musculorum Vera
Hypertrophic Neuropathy and Cataract
hypomyelinating leukodystrophy 5
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
Internal Anal Sphincter Myopathy
intrinsic cardiomyopathy +
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
Kocher-Debre-Semelaigne Syndrome
Kozlowski Rafinski Klicharska Syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leg, Absence Deformity of, with Congenital Cataract
linear skin defects with multiple congenital anomalies 3
Marchiafava-Bignami Disease
Marinesco-Sjogren syndrome
Medial Tibial Stress Syndrome
Metabolic Brain Diseases, Inborn +
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 Cardiomyopathy
mitochondrial DNA depletion syndrome 12a
mitochondrial DNA depletion syndrome 12b
Mitochondrial DNA Depletion Syndrome, Myopathic Form +
mitochondrial encephalomyopathy +
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mousa Al din Al Nassar Syndrome
Muscular Dystrophy, Cardiac Type
Myocardial Reperfusion Injury
myofascial pain syndrome +
Myopathic Carnitine Deficiency
Myopathy with Lactic Acidosis, Hereditary
Myopathy, Cataract, Hypogonadism Syndrome
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND 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 microcephaly, cataracts, and renal abnormalities
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
nonischemic cardiomyopathy
Oculoskeletodental Syndrome
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
palmoplantar keratoderma and congenital alopecia 2
Pavone Fiumara Rizzo Syndrome
Pectoralis Muscle, Absence of
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Peters Anomaly with Cataract
Polycystic Kidney, Cataract, and Congenital Blindness
Premature Aging, Okamoto Type
Proximal Myopathy with Focal Depletion of Mitochondria
pyridoxamine 5'-phosphate oxidase deficiency
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
Schofer Beetz Bohl Syndrome
Singh Chhaparwal Dhanda Syndrome
Singleton Merten Syndrome +
Skeletal Muscle Reperfusion Injury
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 2
systemic primary carnitine deficiency disease
TANGO2-related metabolic encephalopathy and arrythmias
Tel Hashomer Camptodactyly Syndrome
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Treft Sanborn Carey Syndrome
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Uruguay faciocardiomusculoskeletal syndrome
very long chain acyl-CoA dehydrogenase deficiency
Wellesley Carmen French Syndrome
Zonular Cataract and Nystagmus
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