by Remember The Girls | Jul 27, 2022
Back to Previous GRIA3-related Syndrome GRIA3-related syndrome happens when there are changes in the GRIA3 gene. These changes can keep the gene from working as it should. The GRIA3 gene is located on the X chromosome. Males carrying the genetic variation are usually...
by Remember The Girls | Jul 1, 2022
Back to Previous Hemophilia A/B Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting...
by Remember The Girls | Jul 1, 2022
Back to Previous Hunter Syndrome (Mucopolysaccharidosis Type II) Mucopolysaccharidosis type II (MPS II) is a rare lysosomal inborn error of metabolism that affects every organ of the body. Although the age of onset, disease severity and the rate of progression of the...
by Remember The Girls | Jul 1, 2022
Back to Previous Hyper IgM Syndromes Hyper IgM syndromes are a group of rare disorders in which the immune system does not function properly. They are classified as rare primary immunodeficiency disorders, which are a group of disorders characterized by irregularities...
by Remember The Girls | Jul 1, 2022
Back to Previous HNRNPH2-Related Neurodevelopmental Disorder Most individuals with HNRNPH2-related neurodevelopmental disorder (HNRNPH2-NDD) have symptoms early in life, before age 12 months. The major features of HNRNPH2-NDD are developmental delay / intellectual...
