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 ...

MCT8-specific thyroid hormone cell-membrane transporter deficiency (also called Allan-Herndon-Dudley syndrome, AHDS). MCT8 deficiency is a rare, inherited ...

MCT8 deficiency is a rare, inherited brain-development disorder caused by changes (variants) in a gene called SLC16A2. This gene makes a special “door” or ...

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 ...

Alkaptonuria is a rare, lifelong, inherited disease of body chemistry. Your body normally breaks down the amino acids phenylalanine and tyrosine into smaller ...

ACER3 deficiency is a very rare, inherited brain white-matter disease. It starts in infancy and slowly gets worse over time. Children first stop gaining new ...

ACER3-related leukodystrophy is a very rare brain white-matter disease that starts in early childhood. It happens because of harmful changes (variants) in a ...

Alkaline Ceramidase-3 (ACER3) Deficiency is a very rare, inherited white-matter brain disease (a leukodystrophy) that starts in infancy. A change (mutation) in ...

Mannosyltransferase 7–9 deficiency refers to inherited errors in the early steps of building the N-glycan “starter” on a lipid carrier. Think of a conveyor ...

Carbohydrate-Deficient Glycoprotein Syndrome Type 1L (CDG-IL / ALG9-CDG) is a rare, inherited disease. It happens when the ALG9 gene does not work well. This ...