Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare, X-linked mental retardation syndrome. BFLS is characterized by severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Mutations in the zinc finger gene PHF6 are the cause of BFLS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD29 Syndromes with obesity as a major feature
H01915 Borjeson-Forssman-Lehmann syndrome
Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M
Title
The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
