Alveolar capillary dysplasia (ACD) is a very rare birth condition that affects a baby’s lungs. In ACD, the tiny blood vessels (capillaries) that should sit ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, life-threatening lung development disorder that begins before birth. In ...
Congenital adrenal gland hypoplasia means a baby is born with adrenal glands that did not grow or form normally during pregnancy. The adrenal glands sit above ...
Adrenal hypoplasia congenita (AHC) means a baby is born with adrenal glands that did not grow properly during pregnancy. The adrenal glands sit above the ...
Alternating hemiplegia of childhood (AHC) is a rare brain disorder that starts in early life. A child has repeated attacks where one side of the body becomes ...
Alström syndrome is a very rare genetic disease that affects many parts of the body over time. Babies and young children often develop eyesight problems very ...
This rare condition is a genetic syndrome that affects several parts of the body at the same time. People with this syndrome usually have signs of Alport ...
Alport deafness-nephropathy is a genetic disease that affects tiny filter membranes in the kidney, the inner ear, and parts of the eye. These membranes are ...
Alpha-thalassemia–myelodysplastic syndrome (ATMDS)—also called acquired alpha-thalassemia with MDS, acquired HbH disease in MDS, or acquired α-thalassemia ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Schindler disease type 3 is a very rare inherited condition. It happens when the body does not make enough of a lysosomal enzyme called ...
Alpha-N-acetylgalactosaminidase deficiency (often shortened to NAGA deficiency) is a very rare, inherited (passed from parents to children) condition. The body ...
Schindler disease type 2 is a very rare inherited (passed from parents) condition. It happens because the body does not make enough of an enzyme called ...
Kanzaki disease is a very rare inherited condition. It happens when the body does not have enough working of an enzyme called alpha-N-acetylgalactosaminidase ...
Adult-onset alpha-N-acetylgalactosaminidase deficiency is a very rare inherited (genetic) condition. In this condition, a body enzyme called ...
Alpha-N-acetylgalactosaminidase deficiency is a rare genetic condition in which the body does not make enough of an enzyme called ...
Alpha-N-acetylgalactosaminidase deficiency type 1 is a very rare, inherited (from both parents) disease of the body’s “recycling centers,” called lysosomes. In ...
Schindler disease is a very rare inherited (genetic) condition. People with this disorder do not have enough of an enzyme called ...
NAGA deficiency is a very rare inherited disease where the body does not make enough of an enzyme called alpha-N-acetylgalactosaminidase (often shortened to ...
Alpha-N-acetylgalactosaminidase—often shortened to alpha-NAGA—is a small worker-enzyme that lives inside the cell’s “recycling centers,” which are called ...
Alpha-N-acetylgalactosaminidase deficiency is a very rare inherited (runs in families) disease. It happens when the body does not make enough of one cleaning ...
