finger pads, IQ<80, joint laxity, high palate, hypotonia, short stature, CHD, clefts, renal anomalies, hearing loss Majority de novo MCA Monosomy 1p36 1p36 del Hypotonia,
[studystack.com]
finger pads, IQ Clinical Tests: echocardiogram, renal ultrasound, eye exam, neuropsychological testing Molecular Tests: MLL2 gene sequencing, KDM6A gene sequencing and deletion
[quizlet.com]
[…] oculomotor apraxia, renal disease, molar tooth sign NPHP1 deletions are a rare cause MCA Kabuki syndrome AD: KMT2D, XLD: KDM6A Everted lower eyelid, big eyes, big ears, fetal
[studystack.com]