Disease Index

hyperekplexia that has material basis in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32

hyperekplexia that has material basis in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15

unexplained chronic eosinophila

genetic disorder

human disease

This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.

sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas

medical condition

Human disease

skin diease

Excessive movements due to basal ganglia dysfunction

abnormally elevated levels of lipids or lipoproteins in the blood

Human disease

human disease

amino acid metabolic disorder that involves an abnormal increase of lysine in the blood

human disease

human disease

human disease

endocrine disease

human disease

human disease