What is DDX3X syndrome?
DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD).
What are OMIM alleles?
OMIM is a compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and over 12,000 genes.
What is OMIM gene map?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.
When was DDX3X discovered?
DDX3X Syndrome is a rare disease caused by a spontaneous mutation within a DDX3X gene at conception or can be inherited. The syndrome was discovered in the United States in 2014 and primarily affects girls due to its location on the X-chromosome, though there are some boys it has affected as well.
Are most disabilities genetic?
As we unlock the secrets of the human genome (the complete set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth, like sickle cell disease.
What is OMIM used for?
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 16,000 genes. OMIM focuses on the relationship between phenotype and genotype.
How do you get OMIM?
OMIM Search Help
- OMIM Search Help.
- For basic searches, simply enter the terms in the search box and click the ‘Search’ button:
- Adding a ‘+’ (plus) operator before specific terms will ensure that these appear in the entries returned:
- You can search for phrases by adding quotation marks at both ends of the phrase:
What genetic conditions can cause intellectual disabilities?
The two most common genetic causes of intellectual disabilities are Down syndrome and Fragile X syndrome. Down syndrome is the most common genetic origin of intellectual disabilities (ID, formerly mental retardation). Down syndrome occurs in 1 out of every 800 births.
Can retardation be inherited?
Mental retardation is caused by a number of different factors. Among genetic disorders, Fragile X syndrome and Down syndrome are the commonest causes of mental retardation. Fragile X syndrome (FXS) is an inherited form of mental retardation. FXS is estimated to affect 1 in 2,500 males and 1 in 8,000 females.
Are all disabilities genetic?
What kind of info can you look up using the OMIM number for a genetic disorder?