OPHN1 XLMR

Common Name(s)

OPHN1 XLMR, X-linked intellectual disability with cerebellar hypoplasia and distinctive facial appearance, Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance

OPHN1 XLMR is a type of X chromosome linked genetic disorder that causes learning problems (intellectual disabilities), and is caused by a change (mutation) in the OPHN1 gene. Intellectual disability conditions that are caused by mutations in genes on the X chromosome are known as X-linked mental retardation (XLMR) conditions. OPHN1 XLMR causes intellectual disabilities that can range from mild to severe. Affected children, who are usually male, have low muscle tone (hypotonia), seizures, abnormal alignment of the eyes (strabismus), and poor coordination. The condition also causes unique facial features, including a long face, prominent forehead, deep-set eyes, and large ears. Underdeveloped genitals or undescended testes are also possible features. Females tend to be more mildly affected and can have mild learning disabilities, strabismus, and subtle facial features.

OPHN1 XLMR is the result of a change (mutation) in the OPHN1 gene, which is located on the X chromosome. This disorder is inherited in an X-linked manner. Males have one X chromosome (one copy of the OPHN1 gene) and females have two copies of the X chromosome (two copies of the OPHN1 gene). If a male has a mutation in his only copy of the gene, he will have OPHN1 XLMR. If a female has a mutation in one of her two copies, she still has one working copy of the gene and will likely have milder features.

Diagnosis of OPHN1 XLMR is usually considered in children who have the unique facial features and learning problems. The diagnosis is confirmed with genetic testing. Although there is no cure for the disease, therapies can help children with this condition reach their full intellectual potential. If your child has been diagnosed with OPHN1 XLMR, talk to your doctor about all current treatment options. Support groups are a good resource for additional information and connecting with other families affected by OPHN1 XLMR.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "OPHN1 XLMR" for support, advocacy or research.

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OPHN1

We want to connect families affected by the OPHN1 mutation, as well as researchers and clinicians. We want to create a community for advocacy and support, and to fuel medical research and clinical trials for possible treatments.

Last Updated: 25 Jun 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "OPHN1 XLMR" for support, advocacy or research.

Logo
OPHN1

We want to connect families affected by the OPHN1 mutation, as well as researchers and clinicians. We want to create a community for advocacy and support, and to fuel medical research and clinical trials for possible treatments.

http://ophn1.org/

Last Updated: 25 Jun 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "OPHN1 XLMR" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "OPHN1 XLMR" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.