Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare, progressive lysosomal storage disease first described in 1973 by Dr. William Sly. It is caused by the inherited deficiency of the β-glucuronidase enzyme due to mutations in the beta-glucuronidase (GUSB) gene.
Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.
WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability.
Other Names: CINCA syndrome; CINCA; Infantile Onset Multisystem Inflammatory Disease; IOMID; Chronic Infantile Neurological Cutaneous Articular syndrome; NOMID; Multisystem inflammatory disease, neonatal-onset; Prieur Griscelli syndrome. Neonatal onset multisystem inflammatory disease (NOMID) is a rare disorder that causes inflammation and tissue damage primarily affecting the nervous system, skin, and joints. People with NOMID …