trisomy 12p
Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0016933
partial trisomy/tetrasomy of the short arm of chromosome 12
is_a
12p duplication
related
12p trisomy
related
Duplication 12p
exact
chromosome 12p duplication
related
partial trisomy 12p
related
trisomy type 12p
exact