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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. There are over 6,000 known genetic disorders in humans.
List of ICD-9 codes 740–759: congenital anomalies; Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the Creative ...
An example of a condition that appears to have very little if any genetic influence is irritable bowel syndrome (IBS), with a concordance of 28% vs. 27% for MZ and DZ pairs respectively. [26] An example of a human characteristics that is extremely heritable is eye color, with a concordance of 98% for MZ pairs and 7–49% for DZ pairs depending ...
The term "high-functioning autism" was used in a manner similar to Asperger syndrome, another outdated classification.The defining characteristic recognized by psychologists was a significant delay in the development of early speech and language skills, before the age of three years. [12]
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An example of a family pedigree displaying an autosomal recessive trait. A pedigree is a diagram showing the ancestral relationships and transmission of genetic traits over several generations in a family. Square symbols are almost always used to represent males, whilst circles are used for females.
Autism spectrum disorder [a] (ASD), or simply autism, is a neurodevelopmental disorder "characterized by persistent deficits in social communication and social interaction across multiple contexts" and "restricted, repetitive patterns of behavior, interests, or activities". [11]
•List of human protein-coding genes page 2 covers genes EPHA1–MTMR3 •List of human protein-coding genes page 3 covers genes MTMR4–SLC17A7 •List of human protein-coding genes page 4 covers genes SLC17A8–ZZZ3 NB: Each list page contains 5000 human protein-coding genes, sorted alphanumerically by the HGNC-approved gene symbol.