User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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CAGSSS Disease
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CAGSSS disease is a very rare genetic condition that affects many parts of the body, especially the eyes, growth, nerves, ears, and bones. The name “CAGSSS” ...

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Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
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Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome is a very rare inherited condition that affects ...

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Cataract-Glaucoma Syndrome
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Cataract-glaucoma syndrome is a rare inherited eye disorder where a baby is born with dense cataracts in both eyes, and then develops secondary glaucoma later ...

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Schaap-Taylor-Baraitser Syndrome
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Schaap-Taylor-Baraitser syndrome is the name first given to a very rare genetic condition now usually called cataract-deafness-hypogonadism syndrome. It was ...

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Cataract-Hearing Loss-Hypogonadism Syndrome
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Cataract-hearing loss-hypogonadism syndrome (usually called cataract-deafness-hypogonadism syndrome) is an extremely rare genetic disease. It was first ...

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Cataract-Deafness-Hypogonadism Syndrome
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Cataract-deafness-hypogonadism syndrome is an extremely rare genetic disorder in which a child is born with three main problems together: clouding of the eye ...

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Cataract-Ataxia-Hearing Loss Syndrome
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Cataract-ataxia-hearing loss syndrome (often called cataract-ataxia-deafness syndrome) is an extremely rare genetic disorder. Only a very small number of ...

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Cataract-Ataxia-Deafness Syndrome
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Cataract-ataxia-deafness syndrome is an extremely rare genetic disorder in which a person has three main problems together: cataracts present from birth ...

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Wellesley-Carman-French Syndrome
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Wellesley-Carman-French syndrome, also called cataract-aberrant oral frenula-growth delay syndrome, is an extremely rare genetic condition. It is mainly ...

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Cataract Aberrant Oral Frenula-Growth Delay Syndrome
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Cataract-aberrant oral frenula-growth delay syndrome is an extremely rare inherited condition in which a child has cataracts (cloudy lenses in the eyes), many ...

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Congenital Cataract 8 Volkmann Types
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Congenital Cataract 8 Volkmann Types means the clear lens inside the eye is cloudy at birth or soon after birth. This cloud stops light from reaching the ...

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Cataract 8 Multiple Types
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A Cataract 8 multiple types is a disease where the clear natural lens inside your eye becomes cloudy, like a foggy or dirty window. This clouding blocks light ...

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Congenital Cataract Caused by Mutation in EPHA2
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Congenital cataract caused by mutation in EPHA2 is a genetic eye disease where the clear lens of a baby’s eye becomes cloudy because the EPHA2 gene does not ...

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Cataract 6 Multiple Types
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Cataract 6 Multiple Types is a condition where the clear lens inside the eye becomes cloudy, like frosted glass, so light cannot pass through cleanly. This ...

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Juvenile Cataract Hutterite Type
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Juvenile cataract Hutterite type is a rare inherited eye disease in which children or teenagers develop cloudy lenses (cataracts) in both eyes because of a ...

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Early-Onset Non-Syndromic Cataract Caused by Mutation in LEMD2
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Early-onset non-syndromic cataract caused by mutation in LEMD2 is a rare inherited eye disease where the clear lens inside the eye becomes cloudy in childhood ...

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Autosomal Recessive Cataract 46
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Autosomal recessive cataract 46 (often written as “cataract 46, juvenile-onset”) is a rare inherited eye disease where the clear lens of the eye becomes cloudy ...

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Cataract 46, Juvenile-Onset, With or Without Arrhythmic Cardiomyopathy
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Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy is a very rare inherited eye and heart condition. It mainly causes early cataracts in ...

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Early-Onset Non-Syndromic Cataract
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Early-onset non-syndromic cataract caused by mutation in the NHS gene is a genetic eye condition in which the clear lens of the eye becomes cloudy very early ...

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Cataract 40 with or without Microcornea
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Cataract 40 with or without microcornea means a visually significant cataract (cloudy natural lens) in someone around 40 years old, sometimes in an eye with a ...

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