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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder with cardiac defects and dysmorphic facies

Intellectual developmental disorder with cardiac defects and dysmorphic facies

Summary

IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (Stephen et al., 2018). [from OMIM]

Available tests

2 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ERMA, IDDCDF, KIAA0195, TMEM94
    Summary: transmembrane protein 94

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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