What are the other Names for this Condition? (Also known as/Synonyms)

• Autosomal Dominant Mental Retardation 30
• MRD30 (Autosomal Dominant Mental Retardation 30)

What is Autosomal Dominant Intellectual Disability 30? (Definition/Background Information)

• 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
• 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
• The condition is caused by mutations in the ZMYND11 gene. Inheritance seems to be autosomal dominant
• Treatment depends on the symptoms and features present and may include behavioral therapy, speech therapy, physical therapy, occupational therapy, and medication

(Source: Autosomal Dominant Intellectual Disability 30; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Autosomal Dominant Intellectual Disability 30? (Age and Sex Distribution)

• Autosomal Dominant Intellectual Disability 30 is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Autosomal Dominant Intellectual Disability 30? (Predisposing Factors)

• A positive family history may be an important risk factor, since Autosomal Dominant Intellectual Disability 30 can be inherited

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Autosomal Dominant Intellectual Disability 30? (Etiology)

• Autosomal Dominant Intellectual Disability 30 is a genetic disorder that is reportedly caused by ZMYND11 gene mutations
• The condition is inherited in an autosomal dominant manner

Autosomal dominant pattern of inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Autosomal Dominant Intellectual Disability 30?

The signs and symptoms of Autosomal Dominant Intellectual Disability 30 may vary among affected individuals in type and severity, and may include the following:

Occasionally present symptoms in 5-29% of the cases:

• Abnormal facial shape
• Aggressive behavior
• Delayed speech and language development
• Global developmental delay
• Hypertelorism
• Intellectual disability, mild
• Wide mouth

(Source: Autosomal Dominant Intellectual Disability 30; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Autosomal Dominant Intellectual Disability 30 Diagnosed?

Autosomal Dominant Intellectual Disability 30 is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Autosomal Dominant Intellectual Disability 30?

The complications of Autosomal Dominant Intellectual Disability 30 may include:

• Problems with movement
• Behavioral issues

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Autosomal Dominant Intellectual Disability 30 Treated?

There is no cure for Autosomal Dominant Intellectual Disability 30, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops

How can Autosomal Dominant Intellectual Disability 30 be Prevented?

Autosomal Dominant Intellectual Disability 30 may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Autosomal Dominant Intellectual Disability 30? (Outcomes/Resolutions)

• The prognosis of Autosomal Dominant Intellectual Disability 30 is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Autosomal Dominant Intellectual Disability 30:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/