LANOSTEROL DEMETHYLASE DEFICIENCY

Disease	LANOSTEROL DEMETHYLASE DEFICIENCY
Synonym	CYTOCHROME P450, FAMILY 51, SUBFAMILY A, POLYPEPTIDE 1; CYP51A1
OMIM	601637 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	7q21.2
ICD	---
Summary	very rare autosomal recessive
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	behavior, self-mutilating or destructive cataract developmental delay erythema hypopigmentation microcephaly (<2 SD for age) short stature onset, childhood onset, infancy onset, neonatal