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.

Also known as: FINCA, FINCA syndrome, fibrosis-neurodegeneration-cerebral angiomatosis syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Fibrosis, neurodegeneration, and cerebral angiomatosis itself.