Disease Index

Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term)

brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system

medical condition

mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population

Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).

human disease

a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature

human disease

neurodevelopmental condition

(1p21)

This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions

human disease

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medical condition

human disease

human disease

autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies.

autoimmune disease of gastrointestinal tract that results in inflammation located in liver caused by the body's immune system attacking the liver cells

human disease