GTR Home > Conditions/Phenotypes > Mental retardation and distinctive facial features with or without cardiac defects

Summary

Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries (summary by Adegbola et al., 2015). [from OMIM]

Available tests

3 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: MRFACD, PROSIT240, THRAP2, TRAP240L, MED13L
    Summary: mediator complex subunit 13L

Clinical features

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