OBO ID: DOID:0050681
Term Name: Borjeson-Forssman-Lehmann syndrome Search Ontology:
Synonyms:
  • BFLS
  • BORJ
  • Borjeson syndrome
  • intellectual deficiency-epilepsy-endocrine disorders syndrome
  • mental retardation, epilepsy, and endocrine disorder
  • MRXSBFL
  • syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
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. (2)
References:
Ontology: Human Disease   ( DOID:0050681 )
OTHER Borjeson-Forssman-Lehmann syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PHF6 Borjeson-Forssman-Lehmann syndrome 301900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None