New study identifies motor delay and hypotonia as key predictors of genetic diagnoses, offering a practical tool to guide ...

Patau Syndrome, also known as Trisomy 13, is a rare genetic disorder caused by the ... of the mouth (cleft palate), and weak muscle tone (hypotonia). Patau Syndrome is typically not inherited ...

Phenotype: The observable physical or biochemical characteristics of an organism, as determined by both genetic makeup and environmental influences. Hypotonia: A condition characterized by ...

muscular hypotonia, or stunted growth. These features may alert physicians to the need for genetic testing for 22q11.2 copy number variants in bicuspid aortic valve patients who present with early ...

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a ... presentation of GSD-IV with stable congenital hypotonia, gross motor delay, and severe fibro ...