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Disease Profile
Autosomal recessive intellectual disability 58
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.
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Age of onset
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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)
ELP2-related disorder
Summary
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 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
1%-4% of people have these symptoms | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Global |
0001263 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Muscular |
Low muscle tone in trunk
|
0008936 |
Pica | 0011856 | |
Poor head control | 0002421 | |
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Spastic diplegia | 0001264 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
Percent of people who have these symptoms is not available through HPO | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
0000007 | ||
Choreoathetosis | 0001266 | |
Symptoms present at birth
|
0003577 | |
Progressive |
Worsens with time
|
0003676 |
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.
References
- Autosomal recessive mental retardation-58. OMIM. 2016; https://www.omim.org/entry/617270.
- Cohen JS, Srivastava S, Farwell KD, LuH-M, Zeng W, Lu H, Chao EC & Fatemi A. ELP2 is a novel gene implicated inneurodevelopmental. Am J Med Genet Part A. 2015; 167A:1391–1395.. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36935/abstract.