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Abnormality of the digestive system
- ... sagging skin, a lung disease called emphysema, and abnormalities involving the digestive and urinary systems.Most of the LTBP4 gene variants involved in ...
- ... low muscle tone (hypotonia); distinct facial features; and abnormalities that are present from birth (congenital), typically involving the heart, bones, urinary system, or digestive system.Individuals with this condition inherit two altered ...
- ... type 1. This developmental disorder is characterized by abnormalities of the ... (gastrointestinal atresia), an unusually small head size (microcephaly) ...
- ... often have other problems involving the autonomic nervous system, ... tract (Hirschsprung disease), resulting in severe constipation, intestinal ...
- ... affects several parts of the body, particularly the digestive system and nervous system. TYMP gene variants greatly reduce ... impair the normal function of mitochondria. Although mtDNA abnormalities underlie the digestive and neurological problems that are characteristic of MNGIE ...
- ... and other immune system cells. The resulting immune system abnormalities make people with AD-HIES highly susceptible to ... systems. Autoimmune disorders are a group of immune system abnormalities in which the immune system malfunctions and attacks ...
- ... of lung tissue, and the function of the digestive system.Filamin A is also involved in the organization ... the gastrointestinal tract during development before birth, causing ... the digestive tract.Deletions or duplications of genetic material can ...
- ... for the production of fats (lipids) used in digestion and in the nervous system.Within peroxisomes, alkylglycerone phosphate synthase is responsible for ...
- ... the production (synthesis) of fats (lipids) used in digestion and in the nervous system.Peroxisomal biogenesis factor 7 transports several enzymes that ...
- ... for the production of fats (lipids) used in digestion and in the nervous system.Within peroxisomes, the DHAPAT enzyme is responsible for ...