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.
