has material basis in germline mutation in PHF6 Borjeson-Forssman-Lehmann syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9285 https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome https://www.malacards.org/card/borjeson_forssman_lehmann_syndrome NORD:866 MEDGEN:78557 DOID:0050681 syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type UMLS:C0265339 MESH:C536575 ICD9:759.89 Borjeson-Forssman-Lehmann syndrome intellectual disability, epilepsy, and endocrine disorder BFLS Börjeson-Forssman-Lehman Syndrome MONDO:0010537 BORJ intellectual disability-epilepsy-endocrine disorders syndrome A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. Borjeson syndrome OMIM:301900 GARD:0000936 mental retardation, epilepsy, and endocrine disorders Orphanet:127 SCTID:21634003 mental deficiency, epilepsy and endocrine disorders MRXSBFL Borjeson-Forssman-Lehmann syndrome, X-linked recessive multiple congenital anomalies/dysmorphic syndrome-intellectual disability monogenic epilepsy obsolete syndromic genetic obesity X-linked syndromic intellectual disability obsolete eyelids malposition disorder