Short stature, microcephaly, and endocrine dysfunction

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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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
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