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SC4MOL DEFICIENCY

SC4MOL DEFICIENCY
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD
616834
OMIM = Online Mendelian Inheritance of Men
488168
Methylsterol monooxygenase 1
1.14.13.72
4q32.3
very rare
autosomal recessive
mutation in the SC4MOL gene
Laboratory findings    4α-methylsterols inc (plasma)
    7-Dehydrocholesterol inc (plasma)
    Cholesterol normal/dec (plasma)
    HDL-Cholesterol normal/dec (plasma)
    Low-density lipoprotein (LDL) normal/dec (plasma)
Symptoms    blepharitis
    cataract
    contractures, joints
    dermatitis
    developmental delay
    failure to thrive
    frontal bossing
    hair, abnormal (thin, brittle, fine)
    hypotonia
    ichthyosis
    mental retardation
    microcephaly (<2 SD for age)
    onset, childhood
    onset, infancy
    onset, neonatal
    pain, bones or joints
    puberty, delayed or missing
    short stature