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Up to: Hereditary disease · Syndromic disease
Fibrosis, neurodegeneration, and cerebral angiomatosis
Any syndromic disease caused by a mutation in the NHLRC2 gene and is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction.
This condition has no sub-types.