Children are small for gestational age at birth and frequently require supplemental nutrition (63%) or surgical placement of a gastrostomy tube (35%). Early mortality in our cohort was high (40%) at a median age of 13 months (range 4-294 months). Congenital anomalies are common as was dilated cardiomyopathy (50%), QT prolongation (83%) and developmental delay (95%). A microcytic anemia is also common.
DNAJC19