Deletions involving the YWHAE gene showed significant growth restriction, cognitive impairment, and shared craniofacial features, including tall vertex, prominent forehead, broad nasal root, and epicanthal folds; deletions involving the PAFAH1B1 gene presented with seizures, significant developmental delay, and classic lissencephaly [16]. The gene discussed is YWHAE; the disease is lissencephaly spectrum disorders.