X-linked hypophosphatemia | About the Disease | GARD - Genetic …
X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets).
Mucopolysaccharidosis | About the Disease | GARD - Genetic and …
A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system ...
Syndromic X-linked intellectual disability Claes-Jensen type
Syndromic X-linked intellectual disability Claes-Jensen type is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
X-linked spermatogenic failure 1 | About the Disease | GARD
Spermatogenic failure, x-linked, 1 is a cause of male infertility. In Spermatogenic failure, x-linked, 1, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop).
X-linked cone-rod dystrophy 2 | About the Disease | GARD
X-linked cone-rod dystrophy 2 (CORDX2) is caused by mutations mapped to chromosome Xq27. X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors.
Intellectual disability, X-linked 49 | About the Disease | GARD
Intellectual disability, X-linked 49 is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Epilepsy, x-linked 1, with variable learning disabilities and behavior ...
X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I …
Syndromic X-linked intellectual disability 34
Syndromic X-linked intellectual disability 34 is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
X-linked acrogigantism due to Xq26 microduplication
Chromosome Xq26.3 duplication syndrome is a type of X-linked acrogigantism (XLAG). It is caused by extra genetic material on the X chromosome. This condition is characterized by excessive growth.
X-linked parkinsonism-spasticity syndrome | About the Disease
X-linked parkinsonism-spasticity syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.