Borjeson Forssman Lehmann Syndrome |
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Prevalence (%) of clinical parameters based on data from 2 references describing 73 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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