Microdeletions at 1q41q42 can result in a number of phenotypic findings in affected patients.

Affected genes may include: FBXO28. WDR26, TP53BP2, DISP1


Clinical features:

(1) intellectual disability

(2) seizures

(3) brain malformations

(4) clubfeet

(5) short stature

(6) variable diaphragmatic hernia

(7) variable cleft lip and/or palate


Some patients with severe findings may be included in Fryns Syndrome.

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