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Abnormal affect
- ... in people with ethylmalonic encephalopathy. This rare condition affects many parts of the body, including the nervous system, blood vessels, and intestines. Signs and symptoms include delayed development, abnormal movements, rashes of tiny red spots under the ...
- ... spleen, liver, bone marrow, and other organs. The abnormal accumulation and storage ... affect movement. Characteristic features include tremors and impaired balance ...
- ... and protein production in the brain lead to abnormal neuronal function. These neuronal ... almost exclusively affects males and is characterized by small head size ( ...
- ... cranial nerves and the extraocular muscles they control. Abnormal ... mutations do not seem to affect the function of this part of the nervous ...
- ... painful blisters and calluses. In the sebaceous glands, abnormal keratin ... congenita can also affect these other parts of the body. More About ...
- ... painful blisters and calluses. In the sebaceous glands, abnormal keratin ... congenita can also affect these other parts of the body. More About ...
- ... is unable to restrain cell division or signal abnormal cells to die, which contributes ... which affects communication and social interaction. Many of these mutations ...
- ... right ventricular cardiomyopathy (ARVC). This condition most commonly affects the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. ARVC increases the risk of an abnormal heartbeat (arrhythmia) and sudden death.Some PKP2 gene ...
- ... in various regions of the TP63 gene and affect the function of the p63 protein in different ways. Some of the known mutations may give the p63 protein a new, abnormal function (described as "gain-of-function" mutations) or ...
- ... produced. A reduced amount of killin may allow abnormal cells to survive and ... gene promoter only affects the expression of the KLLN gene; people with ...