Genomic imprinting The differential expression of genetic material, at either a chromosomal or allelic level, depending on whether the genetic material has been inherited from the male or the female parent. Glycogenoses A group of at least 10 distinct autosomal recessive disorders characterized by accumulation of glycogen, principally in the liver, skeletal muscle, and heart. Each type of glycogenosis reflects a deficiency of one of the specific enzymes involved in metabolism of glycogen. Hemophilia Hemophilia A is an X-linked recessive disorder of blood clotting that results in spontaneous bleeding, particularly in joints, muscles, and internal organs. The most severe clinical form of mucopolysaccharidosis.
Hydrops fetalis The most serious form of erythroblastosis fetalis in liveborn infants.
Characterized by severe edema , secondary to congestive heart failure caused by severe anemia . Hypoplasia Reduced size owing to the incomplete development of all or part of an organ. Kernicterus Also termed bilirubin encephalopathy, defined as a neurologic condition associated with severe jaundice and characterized by bile staining of the brain, particularly of the basal ganglia, pontine nuclei, and dentate nuclei in the cerebellum. Klinefelter syndrome Also called testicular dysgenesis, is the phenotype of the 47,XXY genotype and is characterized by male hypogonadism and infertility. Autosomal recessive disorders characterized by the accumulation of unmetabolized normal substrates in the lysosomes, owing to deficiencies of specific acid hydrolases.