SF3B4-related acrofacial dysostosis
A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs.
MONDO:0018237
acrofacial dysostosis
is_a
SF3B4-related acrofacial dysostosis
exact
SPAC31G5.01