NGLY1-related congenital disorder of deglycosylation is a very rare inherited disease that affects many parts of the body, especially the brain, nerves, eyes, ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Alacrimia-choreoathetosis-liver dysfunction syndrome is a very rare inherited disease. It is now usually called NGLY1 deficiency or NGLY1-related congenital ...
Congenital disorder of deglycosylation 1 is a very rare inherited disease. Doctors also call it NGLY1 deficiency or NGLY1-congenital disorder of ...
Congenital diarrhea caused by mutation in DGAT1 is a very rare inherited disease. It usually starts in the newborn period or in early infancy. The baby cannot ...
Congenital chronic diarrhea with protein-losing enteropathy is not usually one single disease name. It is a clinical description for a baby or young child who ...
Congenital chronic diarrhea with exudative enteropathy is a rare inherited early-life intestinal disease in which the gut does not handle nutrients, fluids, ...
Congenital diarrhea 7 with exudative enteropathy is a very rare inherited intestinal disease. It usually starts in the newborn period or early infancy. The ...
GUCY2C congenital diarrhea is a very rare inherited bowel disease that usually starts before birth or in the first days or weeks of life. It happens when the ...
Congenital diarrhea caused by mutation in GUCY2C is a very rare inherited bowel disease in which a change in the GUCY2C gene makes the intestine send out too ...
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity is a very rare inherited bowel disease. It usually starts very early in life, often in ...
Chronic diarrhea due to guanylate cyclase 2C overactivity is a very rare inherited intestinal disease. It is caused by an overactive GUCY2C gene, which makes ...
Congenital diarrhea 6, often shortened to DIAR6, is a very rare inherited bowel disease that usually starts at birth or very early in life. It is mainly a ...
Tufting enteropathy is a very rare inherited bowel disease. It usually starts in the first days, weeks, or months of life. The baby has severe watery diarrhea ...
Secretory diarrhea caused by mutation in EPCAM is usually called congenital tufting enteropathy or intestinal epithelial dysplasia. It is a very rare inherited ...
Non-syndromic congenital tufting enteropathy, often called isolated congenital tufting enteropathy, is a very rare inherited intestinal disease that usually ...
Intestinal epithelial dysplasia, also called tufting enteropathy or congenital tufting enteropathy, is a very rare inherited disease of the gut lining. In this ...
EPCAM secretory diarrhea usually means congenital tufting enteropathy caused by harmful changes in the EPCAM gene. This is a very rare inherited intestinal ...
Congenital tufting enteropathy, also called CTE, is a very rare inherited intestinal disease that usually starts in the first days or weeks of life. The bowel ...
Congenital familial intractable diarrhea with epithelial or epithelium abnormalities is now most often called congenital tufting enteropathy (CTE) or ...
Congenital diarrhea 5 with tufting enteropathy is a very rare inherited disease of the small intestine. Doctors also call it congenital tufting enteropathy or ...
