Genetic, developmental and congenital disordersThe following sections are included:Down's syndromeTay–Sachs diseaseLittle's diseaseBourneville's tuberous sclerosis: "When the cat is away…"Arnold Chiari, or Cruveilhier–Cleland–Chiari malformation#Down's syndrome#Tay–Sachs disease#Little's disease#...
The following list summarizes some of the more common disorders, from the rarest (#10) to the most common (#1). 10) Jackson-Weiss Syndrome This syndrome is caused by a premature fusion of the skull bones, which leads to a deformity of the head and face. Jackson-Weiss Syndrome or JWS ...
as this list is also likely to contain genes associated with severe developmental disorders that may be discoverable at larger sample sizes but are likely less penetrant (that is, lower effect size) or lead to increased prenatal or perinatal death (that is, rarer) compared to variants in the ...
To enable experimental dissection of these components in the human, we performed genome-wide profiling of the transcriptomes of peripheral blood mononuclear cells (PBMC) in patients with rare defined "disorders of sex development" (DSD, e.g., 46, XY-females due to defective androgen biosynthesis)...
Many developmental disorders, which can impact a child’s physical, intellectual, or behavioral development, have genetic origins. Some are caused by recessive genes, where a child must inherit an altered gene copy from both parents to develop the condition. They include Joubert syndrome, Bardet-Bi...
(4) associated biochemical findings. The growth disorders selected for inclusion are examples and are by no means a comprehensive list of all known genetic diseases that have some effect on growth. Information on each disorder is summarized and, for most of the disorders, more detailed information...
We identified individuals with germline hypermutation in two separate cohorts comprising parent–offspring trios: 7,930 exome-sequenced trios from the Deciphering Developmental Disorders (DDD) study and 13,949 whole-genome sequenced trios in the rare disease arm of the 100,000 Genome Project (100kG...
Journal of Genetic Mutations and Disorders (JGMD) is an open access, peer reviewed journal which provides advanced researches including Genetics of Infectious Diseases, Genealogical Tracing, Stem Cell Research, Gene mapping with three-point crosses, Gene
Table 3 Extensive panel of DSD-related genes for simultaneous mutation analysis, if no pathogenic variants are detected from the primary list of genesAbbreviations: OMIM, Online Mendelian Inheritance in Man; DSD, disorders of sex development; CAH, congenital adrenal hyperplasia. ...
Each year, thousands of babies are born who do not develop normally because of errors in their genetic makeup. This can lead to conditions such as intellectual disability, epilepsy, autism or heart defects. There are over 1,000 recognised genetic causes, however many individualdevelopmental disord...