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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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 % | 31006512 | 2019-11-26 | |
| Weight loss | multi | 100 % | 31006512 | 2019-11-26 | |
| Developmental delay | nervous | 100 % | 31006512 | 2019-11-26 | |
| Hypogonadism | endocrine | 100 % | 31006512 | 2019-11-26 | |
| Intrauterine growth retardation | multi | 80 % | 31006512 | 2019-11-26 | |
| Hypotonia | nervous | 60 % | 31006512 | 2019-11-26 | |
| Cerebellar atrophy | nervous | 20 % | 31006512 | 2019-11-26 | |
| Scoliosis | skeletal | 20 % | 31006512 | 2019-11-26 | |
| Recurrent infections | lymphatic | 20 % | 31006512 | 2019-11-26 |
List of references:
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Hilde Van Esch, Rita Colnaghi, Kathleen Freson, Petro Starokadomskyy, Andreas Zankl, Liesbeth Backx, Iga Abramowicz, Emily Outwin, Luis Rohena, Claire Faulkner, Gary M Leong, Ruth A Newbury-Ecob, Rachel C Challis, Katrin Õunap, Jacques Jaeken, Eve Seuntjens, Koen Devriendt, Ezra Burstein, Karen J Low, Mark O'Driscoll,
American journal of human genetics - May 2019