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Definition

An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition.

Acronym

ILLD

Synonyms

ILFS2
Infantile liver failure syndrome 2
Pulmonary alveolar proteinosis, Reunion island

 
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