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Human Disease

Borjeson-Forssman-Lehmann syndrome

Term ID
DOID:0050681
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models