Prevalence (%) of clinical parameters based on data from 2 references describing 73 individuals
Add new symptom/sign to this disease
List of symptoms
List of references:
The clinical picture of the BÃ¶rjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
G Turner, K M Lower, S M White, M Delatycki, A K Lampe, M Wright, J Clayton Smith, B Kerr, S Schelley, H E Hoyme, B B A De Vries, T Kleefstra, M Grompe, B Cox, J Gecz, M Partington,
Clinical genetics - Mar 2004
Further clinical delineation of the BÃ¶rjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
Melissa T Carter, David J Picketts, Alasdair G Hunter, Gail E Graham,
American journal of medical genetics. Part A - Feb 2009