Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome
Definition
A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
Also known as BFLS, BORJ, Borjeson syndrome, Börjeson-Forssman-Lehman Syndrome, Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome, X-linked recessive, intellectual disability-epilepsy-endocrine disorders syndrome, intellectual disability, epilepsy, and endocrine disorder, MRXSBFL, syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type — per MONDO