GTR Home > Conditions/Phenotypes > Amish lethal microcephaly

Summary

Excerpted from the GeneReview: Amish Lethal Microcephaly
Amish lethal microcephaly is characterized by microcephaly and early death. The occipitofrontal circumference is typically six to 12 standard deviations below the mean; anterior and posterior fontanels are closed at birth and facial features are distorted. The average life span is between five and six months.

Available tests

26 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: DNC, MCPHA, MUP1, THMD3, THMD4, TPC, SLC25A19
    Summary: solute carrier family 25 member 19

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