Borjeson Forssman Lehmann Syndrome
Borjeson syndrome

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Prevalence (%) of clinical parameters based on data from 2 references describing 73 individuals

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Large ears integumentary 100 % 14756673 2015-06-05
Gynecomastia reproductive 97 % 19161141 2015-06-05
Hypogonadism reproductive 78 % 19161141 2015-06-05
Obesity multi 77 % 19161141 2015-06-05
Mental retardation nervous 75 % 19161141 2015-06-05
Short stature skeletal 33 % 19161141 2015-06-05
Macrocephaly nervous 15 % 19161141 2015-06-05
Seizures nervous 7 % 19161141 2015-06-05
Microcephaly nervous 6 % 19161141 2015-06-05

List of references:

The clinical picture of the Börjeson-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 Börjeson-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