biostudies-literaturePan Lthe National Natural Science Foundation of China294-301https://www.ebi.ac.uk/biostudies/studies/S-EPMC10930350biostudies-literatureUnknown48(2)Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of <i>PHF6</i> gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactyZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesBorjeson<b>-</b>Forssman<b>-</b>Lehmann syndrome: A case report.PMC10930350817714081Xiong JHe FYin FPan LChen SPeng JfalseBorjeson<b>-</b>Forssman<b>-</b>Lehmann syndrome: A case report.Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of <i>PHF6</i> gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodacty2023-01-01T00:00:00Z2023 Feb2025-04-04T19:15:31.377Z2025-04-04T19:15:31.377ZS-EPMC109303503699947710.11817/j.issn.1672-7347.2023.220414