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. http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html

References

• GARD:936
• MESH:C536575
• MIM:301900
• NCI:C157122
• ORDO:127
• SNOMEDCT_US_2023_03_01:21634003
• UMLS_CUI:C0265339

Ontology

Human Disease   ( DOID:0050681 )