Phenotype details |
see paper; ..., short stature; delayed bone age; triangular face; low-hanging columella; short philtrum; thin upper vermilion border; no wide mouth; no deep-set eyes; no long eyelashes; no low set ears; no broad thumbs; no brachydactyly; no clinodactyly 5th finger; no small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; congenital heart defects; no gastrointestinal motility issues; no behavioral issues |