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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 |
| Short stature | skeletal | 100 % | 25728776 | 2017-01-06 | |
| Microcephaly | nervous | 100 % | 25728776 | 2017-01-06 | |
| Developmental delay | nervous | 60 % | 25728776 | 2017-01-06 | |
| Lymphopenia | lymphatic | 17 % | 25728776 | 2017-01-06 |
List of references:
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Jennie E Murray, Mirjam van der Burg, Hanna IJspeert, Paula Carroll, Qian Wu, Takashi Ochi, Andrea Leitch, Edward S Miller, Boris Kysela, Alireza Jawad, Armand Bottani, Francesco Brancati, Marco Cappa, Valerie Cormier-Daire, Charu Deshpande, Eissa A Faqeih, Gail E Graham, Emmanuelle Ranza, Tom L Blundell, Andrew P Jackson, Grant S Stewart, Louise S Bicknell,
American journal of human genetics - Mar 2015