Mannosidosis is a rare genetic disease. It belongs to a group called lysosomal storage disorders. Lysosomes are tiny recycling centers inside our cells. They ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Alpha-mannosidosis is a rare, inherited disease. A child is born with it when both parents pass down a changed copy of a gene called MAN2B1. This gene makes an ...
Alpha-mannosidase deficiency—also called alpha-mannosidosis—is a rare inherited disease. It happens when the body does not make enough of an enzyme called ...
Alpha-D-mannosidosis is a rare, inherited, metabolic disease. It happens when the body does not make enough of an enzyme called lysosomal alpha-mannosidase. ...
Alpha-mannosidosis is a rare, inherited metabolic disease. It happens because the body does not make enough of an enzyme called lysosomal alpha-mannosidase. ...
Antiplasmin deficiency is a rare bleeding disorder. In healthy blood, clots form to stop bleeding and then slowly dissolve when healing is done. A protein ...
Hemorrhagic diathesis due to antithrombin Pittsburgh is a very rare bleeding disorder caused by a special change (mutation) in the alpha-1 antitrypsin (AAT) ...
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition. Your liver makes too little of a protective protein called alpha-1 antitrypsin (AAT), or it ...
Devriendt-Vandenberghe-Fryns (DVF) syndrome is a very rare genetic condition first described in two brothers. It combines three main features: (1) complete ...
Alopecia-intellectual disability syndrome 2 is a very rare genetic condition. It affects hair growth and brain development. People usually have little or no ...
Shokeir syndrome is a rare and often lethal condition that starts before birth. Babies move very little in the womb (called fetal akinesia). Because of the ...
Alopecia universalis means complete loss of hair on the scalp and the whole body. The word congenita means the condition is present at birth or starts very ...
IPP-Gelfand syndrome is a very rare immune system condition in which a person has severe hair loss (often total scalp hair loss, “alopecia totalis”) together ...
Alopecia antibody deficiency is a rare condition where a person has significant hair loss (usually alopecia areata, totalis, or universalis) together with an ...
Perniola-Krajewska-Carnevale syndrome is a very rare genetic condition. Children are usually born healthy in terms of vital signs, but they show two main ...
Alopecia–Intellectual Disability Syndrome is a very rare inherited condition. People with this syndrome have hair loss (sometimes on the whole body, sometimes ...
Alopecia–Contractures–Dwarfism–Intellectual Disability syndrome (ACD syndrome) is a very rare genetic condition. “Genetic” means it starts before birth because ...
X-linked intellectual disability–hypotonia syndrome is a genetic condition that mainly affects the brain, nerves, and muscles. “X-linked” means the change is ...
Monocarboxylate transporter 8 deficiency is also called Allan-Herndon-Dudley syndrome (AHDS), SLC16A2-related disorder, X-linked intellectual ...
MCT8 deficiency is a rare, X-linked genetic condition that mostly affects boys. A change (pathogenic variant) in the SLC16A2 gene damages a protein called ...
