Macrocephaly/autism syndrome

Common Name(s)

Macrocephaly/autism syndrome

Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation ({6:Herman et al., 2007}). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function ({12:Tsujita et al., 2016}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Macrocephaly/autism syndrome" for support, advocacy or research.

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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 "Macrocephaly/autism syndrome" returned 0 free, full-text research articles on human participants.

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The terms "Macrocephaly/autism syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
 

Status: Recruiting

Condition Summary: PTEN; ASD; Autism; Macrocephaly; PTEN Hamartoma Tumor Syndrome

 

Last Updated: 27 Feb 2017

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