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

To read more or access our algorithms and calculators, please log in or register.