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lathosterolosis
Genetics:
- autosomal recessive
2) cause by mutations in the SC5DL gene
Clinical manifestations:
1) complex phenotype
2) multiple congenital anomalies
3) mental retardation
4) liver disease
Related
lathosterol (5-alpha-cholest-7-en-3-beta-ol)
lathosterol oxidase; C-5 sterol desaturase; delta(7)-sterol 5-desaturase; lathosterol 5-desaturase; sterol-C5-desaturase (SC5D, SC5DL)
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 607330
References
OMIM :accession 608557