National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Autosomal recessive intellectual disability 58


Other Names:
ELP2-related disorder
Autosomal recessive intellectual disability 58 is a very rare genetic condition characterized by intellectual disability without identified malformations in other organs (non-syndromic) of the body.  To date, there are only eight cases reported in the medical literature.  Symptoms severity varied in the reported cases, with mild or severe intellectual disability.[1] In one family with two affected brothers, one was not able to walk at age 9 due to progressive spasticity (stiffness or tightness of the muscles with too strong or persistent reflexes) and difficulty talking, and the other never walked or talked. Both brothers had behavioral problems, such as aggressiveness, impulsivity, and self-injury.[2]  It is caused by mutations in the ELP2 gene. In the reported cases inheritance seems to be autosomal recessive.[1] There is no report of specific treatment. 
Last updated: 9/4/2017

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.

Showing of 17 |
Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Short stature
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 developmental delay 0001263
Hyperreflexia
Increased reflexes
0001347
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Muscular hypotonia of the trunk
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
Autosomal recessive inheritance 0000007
Choreoathetosis 0001266
Congenital onset
Symptoms present at birth
0003577
Progressive
Worsens with time
0003676
Showing of 17 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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. 

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Autosomal recessive mental retardation-58. OMIM. 2016; https://www.omim.org/entry/617270.
  2. 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.. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36935/abstract.