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 dominant intellectual disability 30


Autosomal dominant intellectual disability 30 is a rare genetic condition characterized by developmental delay, speech delay, social difficulties and behavioral problems. Other symptoms and features may include aggressive behavior with mood swings in childhood, unusual facial features (wide spaced eyes (hypertelorism), drooping eyelids (ptosis), and a wide mouth), autism spectrum disorder, poor muscle tone (hypotonia), epilepsy, and deafness.[1] One of the few patients described also had a happy disposition and uncoordinated gait (unsteady while walking), as well as eosinophilic esophagitis and multiple allergies.[2] The condition is caused by mutations in the ZMYND11 gene.[3] Inheritance seems to be autosomal dominant. The loss of this gene may also cause some of the features in the recently described 10p15.3 microdeletion syndrome. Treatment depends on the symptoms and features present and may include behavioral therapy, speech therapy, physical therapy, occupational therapy, and medication.[4]
Last updated: 10/28/2016

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.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Percent of people who have these symptoms is not available through HPO
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ] 		0000718
Autosomal dominant inheritance 0000006
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
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Ptosis
Drooping upper eyelid
0000508
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
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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. 

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  1. Coe BP & cols. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature genetics. 2014; 46(10):1063-1071. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177294/.
  2. Moskowitz AM & cols. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia. Cold Spring Harbor Molecular Case Studies. 2016; 2(5):a000851. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002929/.
  3. Mental retardation, autosomal dominant 30. OMIM. 2014; http://omim.org/entry/616083.
  4. Cobben JM & cols. A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. Eur J Med Genet. 2014; 57(11-12):636-8. https://www.ncbi.nlm.nih.gov/pubmed/25281490.