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Below are the most recent content updates.
Updated: Robinow syndrome
Robinow syndrome is an extremely rare skeletal dysplasia (bone abnormality) disorder that can affect both genders and usually presents with short stature, some skull and facial abnormalities, skeletal abnormalities, and sometimes genital abnormalities. Learn more.
Updated: Gaucher disease
Gaucher disease was first described by Dr. Phillippe Gaucher in 1882. Gaucher disease is a lysosomal storage disease involving a deficiency (lacking) of the enzyme glucocerebrosidase (GBA). Learn more.
Updated: Fragile X syndrome
Fragile X syndrome is a genetic condition that runs in families. It is the most common known genetic cause of intellectual disability and the most common known single-gene cause of autism. Learn more.
[Batch Update 2016-08-30]