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Glycogen storage disease type II; Glycogen storage disease type III; Glycogen storage disease type V; Phosphofructokinase deficiency; GM1 gangliosidoses; GM2 gangliosidoses; GM2-gangliosidosis, AB variant; Goldmann–Favre syndrome; Gonadotropin-releasing hormone insensitivity; Griscelli syndrome; Guanidinoacetate methyltransferase deficiency ...
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
Certain other phenotypes, such as wet versus dry earwax, are also determined in an autosomal recessive fashion. [24] [25] Some autosomal recessive disorders are common because, in the past, carrying one of the faulty genes led to a slight protection against an infectious disease or toxin such as tuberculosis or malaria. [26]
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination ().
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
A disease or trait determined by a gene on the X chromosome demonstrates X-linked inheritance, which can be divided into dominant and recessive patterns. The first X-linked genetic disorder described on paper was by John Dalton in 1794, then later in 1910, following Thomas Hunt Morgan 's experiment, more about the sex-linked inheritance was ...
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
The McLeod phenotype is a recessive mutation of the Kell blood group system. The McLeod gene encodes the XK protein, which is located on the X chromosome, [2] and has the structural characteristics of a membrane transport protein but an unknown function. Absence of the XK protein is an X-linked disease. [3]