An extremely rare inborn error of sterol biosynthesis with manifestations of facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in
lathostérolose
SNOMEDCT-BE (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in / 719257008
SNOMEDCT-BE (disorder) / 719257008