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.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
FINCA
exact
FINCA syndrome
exact
fibrosis-neurodegeneration-cerebral angiomatosis syndrome
exact