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GTR Home > Conditions/Phenotypes > Macrocephaly-autism syndrome

Macrocephaly-autism syndrome

Synonyms
Macrocephaly/autism syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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 (Herman et al., 2007). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function (Tsujita et al., 2016). [from OMIM]

Available tests

127 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (127 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, TEP1, PTEN
    Summary: phosphatase and tensin homolog

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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