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GTR Home > Conditions/Phenotypes > Xerosis and growth failure with immune and pulmonary dysfunction syndrome

Xerosis and growth failure with immune and pulmonary dysfunction syndrome

Synonyms
XGIP SYNDROME

Summary

Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) is characterized by premature birth, intrauterine and postnatal growth retardation, and collodion membrane or collodion-like skin at birth with dry skin thereafter. Patients also exhibit bronchopulmonary disease and thrombocytopenia and neutropenia. Variable features include cardiac anomalies, seizures, encephalopathy, and cholestasis, and cataract has been observed. Affected individuals die within the first year of life (Shamseldin et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: XGIP, DBR1
    Summary: debranching RNA lariats 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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