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Summary
DESMOSTEROLOSIS
DESMOSTEROL-TO-CHOLESTEROL ENZYME, DCE
602398
OMIM = Online Medalian Inheritance of Men
35107
1p33-p31.1
autosomal recessive
symptoms
cleft palate
clubfoot
corpus callosum, agenesis/hypoplasia
dysmorphism
macrocephaly (large calvaria, >2 SD for age)
mental retardation
microcephaly
motor retardation
small chin or micrognathia
speech development, delayed, abnormal
laboratory finding
Desmosterol increasedplasma
Literature
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996