EFL1 and exocrine pancreatic insufficiency: This condition presents with features similar to classic SDS1 such as pancreatic insufficiency and haematologic abnormalities.<h4>Case presentation</h4>We report a Palestinian female infant admitted to the NICU at H-Clinic Hospital, Ramallah, in January 2023, with a homozygous mutation in the EFL1 gene (c.3284G>A; p.Arg1095Gln), identified through whole exome sequencing and confirmed by Sanger sequencing.