Disease Index

neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration

human disease

medical condition

human disease

human disease

human disease

Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures

human disease

human disease

intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has material basis in a mutation in the gene encoding mitochondrial cytochrome b

hypophosphatasia that has material basis in an autosomal recessive mutation of ALPL on chromosome 1p36.12

human disease

human disease

connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs

describes several similar diseases

form of neuronal ceroid lipofuscinosis

human disease

Human disease

This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus

Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal

medical condition

medical condition

human disease

human disease

medical condition

human disease