Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Cataract-Hypertrichosis-Intellectual Disability Syndrome
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Cataract-hypertrichosis-intellectual disability syndrome is an extremely rare genetic condition in which a child is born with cloudy lenses in the eyes ...

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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-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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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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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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Cataract 46 Juvenile-Onset
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Cataract 46 juvenile-onset is a rare inherited eye disease where the clear lens inside the eye slowly becomes cloudy in childhood, usually between about 3 and ...

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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 4, Nonnuclear Polymorphic Congenital
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Nonnuclear polymorphic congenital cataract is a rare inherited cataract that affects mainly the outer parts of the lens (cortex, capsule, or subcapsular areas) ...

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Cataract (Disease) Caused by Mutation in CRYGD
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Cataract caused by a mutation in the CRYGD gene is a genetic eye disease where the clear lens inside the eye becomes cloudy because the gamma-D crystallin ...

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Autosomal Recessive Congenital Nuclear Cataract 1
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Autosomal recessive congenital nuclear cataract 1 is a rare inherited eye disease in which the central part (nucleus) of the lens in both eyes is cloudy ...

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Early-Onset Non-Syndromic Cataract Caused by Mutation in CHMP4B
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Early-onset non-syndromic cataract caused by mutation in CHMP4B is a rare inherited eye disease where the clear lens of the eye becomes cloudy in childhood or ...

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