Some of the most dramatic examples are a de novo EP300 mutation causing microcephalic primordial dwarfism, a homozygous ZNF526 mutation causing a novel Noonan-like phenotype, a homozygous IFT122 mutation causing severe ocular anomalies and unusual appendicular skeletal abnormalities, and a de novo KMT2A mutation causing genital abnormalities in an affected female, including absent uterus and vagina with remarkable clitoromegaly (Table 2). This evidence concerns the gene IFT122 and isolated growth hormone deficiency type IA.