Two patients in Group 2 presented a nonspecific elevation of acylcarnitine and hyperbeta-alaninemia with a negative result in WES for IEiM but presented additional clinical abnormalities, suggesting syndromic entities responsible for intellectual disabilities not related to IEiM, including heterozygous pathogenic variants in SOX4 and PAFAH1B1 responsible for Coffin-Siris syndrome type 10 (3bINP-001) and lissencephaly type 1 (3bINP-041), respectively. The gene discussed is PAFAH1B1; the disease is classic lissencephaly.