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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
dominant Stargardt disease (macular degeneration) ABCA4, CNGB3, ELOVL4, PROM1: dominant or recessive 1-1.28:10,000 Stickler syndrome (multiple forms) COL11A1, COL11A2, COL2A1, COL9A1: dominant or recessive 1:7,500-9,000 (U.S.) Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type) COL2A1: dominant Tay–Sachs disease: HEXA (15 ...
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 ...
Autosomal dominant conditions sometimes have reduced penetrance, which means although only one mutated copy is needed, not all individuals who inherit that mutation go on to develop the disease. Examples of this type of disorder are Huntington's disease, [21]: 58 neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary ...
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 ...
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
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;
Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis