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GTR Home > Conditions/Phenotypes > Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Summary

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017). [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMMERC1, MFHIEN, AMMECR1
    Summary: AMMECR nuclear protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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