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Disease Profile
IQSEC2
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
IQSEC2-related intellectual disability; IQSEC2-related epilepsy; X-linked intellectual disability 1/78;
Summary
IQSEC2 is a genetic condition that causes
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
5%-29% of people have these symptoms | ||
Postnatal |
0005484 | |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Poor speech | 0002465 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
0001423 | ||
0001419 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Social Networking Websites
- Visit the IQSEC2 Mutation group on Facebook.
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss IQSEC2. Click on the link to view a sample search on this topic.
References
- Alexander-Bloch AF, McDougle CJ, Ullman Z & Sweetser DA. IQSEC2 and X-linked syndromal intellectual disability. Psychiatr Genet. June 2016; 26(3):101-108. https://www.ncbi.nlm.nih.gov/pubmed/27010919.
- Gandomi SK, Farwell Gonzalez KD, Parra M et al. Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis. J Genet Couns. June 2014; 23(3):289-298. https://www.ncbi.nlm.nih.gov/pubmed/24306141.
- Tran Mau-Them F, Willems M, Albrecht B, et al. Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. European Journal of Human Genetics. 2014; 22(2):289-292. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895633/.
- Zerem A, Haginoya K, Lev, D. et al. The molecular and phenotypic spectrum of IQSEC2-related epilepsy. Epilepsia. 2016; 57:1858-1869. https://www.ncbi.nlm.nih.gov/pubmed/27665735.