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Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons; Autosomal dominant GTP cyclohydrolase I deficiency; Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; Autosomal dominant nocturnal frontal lobe epilepsy; Autosomal dominant partial epilepsy with auditory features
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.
Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (44+xxy) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity. The chance of passing on an X-linked dominant disorder differs between men and women.
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information.
X-linked dominant inheritance As an inheritance pattern, it is less common than the X-linked recessive type. In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder is located on the X chromosome, and only one copy of the allele is sufficient to cause the disorder when inherited from a parent who has ...
Pages in category "X-linked dominant disorders" The following 18 pages are in this category, out of 18 total. ... X-linked Charcot–Marie–Tooth disease;
Alzheimer's Disease Cooperative Study; Ataxia–telangiectasia; Autosomal dominant cerebellar ataxia; Autosomal recessive spastic ataxia of Charlevoix-Saguenay; B.
Pages in category "Genetic diseases and disorders" The following 187 pages are in this category, out of 187 total. ... Autosomal dominant cerebellar ataxia, deafness ...