lathosterolosis
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
MONDO:0019240
sterol biosynthesis disorder
is_a
lathosterolosis
exact
sterol C5-desaturase deficiency
exact
SPAC1687.16c SPBC27B12.03c