Conditions / Genetic
Borjeson-Forssman-Lehmann syndrome
info · Genetic
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 mutation
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.
Signs and symptoms
- Thickened calvaria
- Short stature
- Seizure
- Blepharophimosis
- Hypotonia
- Generalized hypotonia
- Coarse facial features
- Severe intellectual disability
- Widely spaced toes
- Nystagmus
Also known as: BFLS; BORJ; Borjeson syndrome; MRXSBFL; intellectual deficiency-epilepsy-endocrine disorders syndrome