Additional features-including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation-were
[research.manchester.ac.uk]
pigmentation Genes involved The deletion encompasses 22 genes, including PAK2 DLG1 References Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, Fitzpatrick DR,
[humpath.com]
[…] chronic constipation, gastroesophageal reflux disorder, urinary voiding dysfunction, abnormal skin pigmentation, and dysmorphic features.
[ncbi.nlm.nih.gov]