Disease Index

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit

Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid alpha-glucosidase, leading to glycogen accumulation primarily in cardiac and skeletal muscle. The infantile-onset form presents with severe cardiomyopathy and hypotonia, while late-onset forms manifest as progressive proximal muscle weakness and respiratory insufficiency. The estimated prevalence is 1 in 40,000 live births across all ethnic groups.

legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days

human disease

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gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

human disease

human disease

Human disease

congenital disorder of nervous system characterized by cysts or cavities within the cerebral hemisphere.

medical condition

human disease