LIG4 Syndrome

 Contact us
 
Return to database




Prevalence (%) of clinical parameters based on data from 1 references describing 11 individuals







Add new symptom/sign to this disease

Select symptom from list or write it in the box
 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 % 24123394 2015-09-18
Microcephaly nervous 100 % 24123394 2015-09-18
Broad nasal bridge skeletal 100 % 24123394 2015-09-18
Epicanthal fold integumentary 100 % 24123394 2015-09-18
Radiosensitivity lymphatic 100 % 24123394 2015-09-18
Hypogammaglobulinemia circulatory 88 % 24123394 2015-09-18
B-cell depletion circulatory 88 % 24123394 2015-09-18
Thrombocytopenia circulatory 82 % 24123394 2015-09-18
Leukopenia circulatory 82 % 24123394 2015-09-18
Bone marrow failure circulatory 73 % 24123394 2015-09-18
Developmental delay nervous 72 % 24123394 2015-09-18
Immune deficiency circulatory 50 % 24123394 2015-09-18
Anemia circulatory 44 % 24123394 2015-09-18
Hip dysplasia skeletal 27 % 24123394 2015-09-18
Vomiting digestive 9 % 24123394 2015-09-18



List of references:


Extreme growth failure is a common presentation of ligase IV deficiency.
Jennie E Murray, Louise S Bicknell, Gökhan Yigit, Angela L Duker, Margriet van Kogelenberg, Sara Haghayegh, Dagmar Wieczorek, Hülya Kayserili, Michael H Albert, Carol A Wise, January Brandon, Tjitske Kleefstra, Adilia Warris, Michiel van der Flier, J Steven Bamforth, Kurston Doonanco, Lesley Adès, Alan Ma, Michael Field, Diana Johnson, Fiona Shackley, Helen Firth, C Geoffrey Woods, Peter Nürnberg, Richard A Gatti, Matthew Hurles, Michael B Bober, Bernd Wollnik, Andrew P Jackson,



Human mutation - Jan 2014