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GREENBERG SKELATAL DYSPLASIA (GRBGD)

GREENBERG SKELATAL DYSPLASIA (GRBGD)
STEROL C14 REDUCTASE DEFICIENCY
215140
OMIM = Online Mendelian Inheritance of Men
1426
n Delta(14)-sterol reductase LBR
1.3.1.70
1q42.12
Q77.3
very rare
autosomal recessive
mutation in the LBR gene
Laboratory findings    Cholesta-8,14-dien-3β-ol inc (fibroblasts)
Symptoms    cystic hygroma
    dysmorphism
    early death
    hydrops fetalis
    laryngeal and tracheal calcification
    omphalocele (exomphalos)
    onset, fetus
    onset, neonatal
    polydactyly
    rhizomelia
    short stature