A terminal microdeletion in 14q (14qter) can result in a number of phenotype findings.
Terminal microdeletion of 14q may be associated with:
(1) mental retardation or developmental delay
(2) hypotonia
(3) facial dysmorphism
(4) hypoplastic corpus callosum
Facial dysmorphism may include:
(1) large forehead
(2) ptosis
(3) narrow palpebral fissures
(4) epi-telecanthus
(5) short bulbous nose or upturned tip
(6) long philtrum
(7) thin upper lip
(8) small mouth
(9) microretrognathia
(10) prominent earlobes
