[…] growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum
[chr7.org]
He had a bulbous nose. There was freckling across his nose and under his eyes.
[journals.plos.org]
nose, xanthomas, cardiac (peripheral pulmonary stenosis, TOF) Term Definition ataxia, partial seizures, MR, liver disease Term Definition X-linked dominant; collagen defect
[flashcardmachine.com]