Lathosterolosis
MONDO:0011816Lathosterolosis 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.
Also known as: lathosterolosis, sterol C5-desaturase deficiency, Sc5D deficiency
3 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
Disease
(680)
Metabolic disease
(233)
Inherited lipid metabolism disorder
(189)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Developmental defect during embryogenesis
(8)
Cholesterol metabolism disease
(3)
Cholesterol biosynthetic process disease
(2)
Disease of genetic or genomic mechanism
(2)