Microdeletions in 4q21 can result in a number of phenotypic findings.

Some candidate genes: PRKG2, RASGEF1B, SEC31A, CCDC98, WDFY13, HNRNPD, HNRNPDL, ENOPH1


Clinical features:

(1) intellectual disability

(2) hypotonia

(3) short stature

(4) feeding difficulties

(5) malformations of hands and feet (short fingers, small hands, shortened toes, small feet, small nail beds)

(6) variable brain malformations

(7) delayed or absent speech


Dysmorphic facial features:

(1) frontal bossing

(2) hypertelorism

(3) downward slanted palpebral fissures

(4) short philtrum

(5) high-arched palate

(6) hypoplastic ear lobes

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