lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
MONDO:0012757Mondo
Findings
No curated finding names lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.
Definition from the Mondo Disease Ontology (MONDO:0012757), read 2026-09-29. CC BY 4.0.