MCT8-specific thyroid hormone cell-membrane transporter deficiency (also called Allan-Herndon-Dudley syndrome, AHDS). MCT8 deficiency is a rare, inherited ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Allan–Herndon syndrome (AHDS) is a rare, X-linked genetic condition that affects how thyroid hormone gets into brain cells. The gene involved is SLC16A2, which ...
Allan–Herndon–Dudley syndrome (AHDS) is a rare genetic brain and body disorder that starts before birth and shows up in early infancy. It happens because a ...
Homogentisic acid oxidase deficiency is a rare, inherited metabolic disorder. It happens when the body cannot make enough of an enzyme called homogentisate ...
Homogentisate 1,2-dioxygenase (HGD) deficiency is a rare, inherited condition in which the body cannot fully break down the amino acids tyrosine and ...
Hereditary ochronosis is a rare genetic condition that happens when the body cannot break down a natural chemical called homogentisic acid (HGA). This problem ...
ALG9-Congenital Disorder of Glycosylation (ALG9-CDG) is a rare, inherited disease that affects how the body builds sugar chains (called N-glycans) that are ...
Glucosyltransferase 2 deficiency is a rare, inherited condition where a small “assembly-line” step for building sugar chains on proteins does not work ...
Glucosyltransferase-1 deficiency is a rare, inherited metabolic condition. It happens when a gene called ALG6 does not work properly. The ALG6 gene makes an ...
Mannosyltransferase-6 deficiency is a very rare, inherited condition that affects how the body builds sugar chains on proteins (a process called N-linked ...
Congenital disorders of glycosylation (CDG) are rare, inherited diseases in which the body has trouble attaching sugar chains (called glycans) to proteins and ...
ALG3-CDG is a rare, inherited metabolic disease. It happens when a child receives two faulty copies of the ALG3 gene (one from each parent). The ALG3 gene ...
Mannosyltransferase 2 deficiency is a very rare, inherited condition. It happens when both copies of a gene called ALG2 do not work well. The ALG2 gene makes ...
Congenital Disorder of Glycosylation type 1i (CDG-1i) is a very rare, inherited metabolic disease. It happens because a small change (mutation) in a gene ...
Congenital Disorders of Glycosylation (CDG) are a large group of rare, inherited conditions where the body has trouble attaching sugar chains (called glycans) ...
ALG11-CDG is a rare, inherited disease that starts at birth or in early infancy. It happens because a child receives two non-working copies of a gene called ...
Congenital disorder of glycosylation type Ik is a rare, inherited disease that starts at birth. Doctors now call it ALG1-CDG because the problem is in a gene ...
Carbohydrate-deficient glycoprotein syndrome (CDG) is a group of rare, inherited conditions. In CDG, the body has trouble attaching sugar chains (called ...
Alexander disease is a rare brain disorder. It belongs to a group of conditions called leukodystrophies. Leukodystrophies damage the white matter of the brain ...
A complex neurodevelopmental disorder is a long-term condition that starts early in life because the brain develops in a different way. “Neuro” means brain and ...
