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Disease Profile

Autosomal dominant intellectual disability 30

Prevalence
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.

Unknown

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Summary

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]

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
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

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

  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; https://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.