FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Borjeson-Forssman-Lehmann syndrome ID (Ontology) DOID:0050681 (Human Disease)
Definition An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
Also Known As "BFLS" ; "BORJ" ; "Borjeson syndrome" (for all, see Synonyms field below)
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 Genes
 Borjeson-Forssman-Lehmann syndrome       1
 for disease ribbon | Borjeson-Forssman-Lehmann syndrome       1
 model of | Borjeson-Forssman-Lehmann syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked recessive disease__________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                Borjeson-Forssman-Lehmann syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
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Synonyms
  • "BFLS" EXACT OMO:0003012
    "BORJ" EXACT OMO:0003012
    "Borjeson syndrome" EXACT
    "intellectual deficiency-epilepsy-endocrine disorders syndrome" EXACT
    "mental retardation, epilepsy, and endocrine disorder" EXACT
    "MRXSBFL" EXACT OMO:0003012
    "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type" EXACT
Secondary IDs
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GARD:936
MESH:C536575
MIM:301900
NCI:C157122
ORDO:127
SNOMEDCT_US_2023_03_01:21634003
UMLS_CUI:C0265339