| A rare genetic intellectual disability malformation syndrome with characteristics of global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis and strabismus. |
