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Autosomal dominant cerebellar ataxia; 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 ...
Download as PDF; Printable version; ... Autosomal dominant disorders (3 C, 211 P) Autosomal recessive disorders (5 C, 441 P) M. Mitochondrial diseases (25 P) X.
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.
Download as PDF; Printable version; In other projects ... This is a list of diseases starting with the letter "D". D. D ercole syndrome ... autosomal dominant ...
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy; Autosomal dominant partial epilepsy with auditory features; Autosomal dominant porencephaly type I; Autosomal recessive axonal neuropathy with neuromyotonia; Autosomal recessive bestrophinopathy
Download as PDF; Printable version ... This is a list of diseases starting with the letter "R". Ra ... Renal tubular acidosis, distal, autosomal dominant; ...
The diseases were categorized into five types HSAN I-V based on the mode of inheritance, the predominant clinical features, and the age at onset. The diseases that are characterized by autosomal dominant mode of inheritance and adolescence or adulthood disease onset are categorized in HSAN I. [41] [40]
Description: Modified version of Image:Autosomal Dominant Pedigree Chart.svg.Enlarged letters, cropped. Its description is: Autosomal Dominant Pedigree Chart. In Autosomal Dominance the chance of receiving and expressing a particular gene is 50% regardless of the sex of parent or child.