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GTR Home > Conditions/Phenotypes > Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies

Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies

Summary

Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (FARIMPD) is an autosomal recessive syndrome characterized by hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency at birth requiring ventilation and significant dysmorphic facial features; seizures may also occur. Brain imaging shows variable malformations of cortical development, most commonly polymicrogyria or other gyral anomalies. Death in infancy usually occurs (summary by Monteiro et al., 2020). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE98, FARIMPD, FHM2, MHP2, ATP1A2
    Summary: ATPase Na+/K+ transporting subunit alpha 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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