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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

Synonyms
PHRINL SYNDROME

Summary

Neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome (PHRINL) is an autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Rare patients may survive a few months. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy. Laboratory studies show evidence consistent with mitochondrial defects and/or abnormal cholesterol or lipid metabolism. Depending on the type of mutation or deletion, some patients may have a less severe disorder (see GENOTYPE/PHENOTYPE CORRELATIONS) (summary by Desai et al., 2017). [from OMIM]

Available tests

2 tests are in the database for this condition.

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Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HAYOS, PHRINL, ATAD3A
    Summary: ATPase family AAA domain containing 3A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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