Syndromes (n = 9)- Lethal neonatal CPTII deficiency- Denys-Drash- Congenital hydrocephalus s/p VP shunt, epilepsy- Gastroschisis- Beckwith-Wiedemann- Macrocephaly capillary malformation and polymicrogyria syndrome s/p VP shunt- Heterozygous for POMT2 gene associated with muscular dystrophy- Congenital intracranial cysts. Here, CPT2 is linked to muscular dystrophy.