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Prevalence (%) of clinical parameters based on data from 1 references describing 11 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 |
| Microcephaly | nervous | 100 % | 20118933 | 2014-06-18 | |
| Seizures | nervous | 100 % | 20118933 | 2014-06-18 | |
| Hyperactivity | nervous | 100 % | 20118933 | 2014-06-18 | |
| Developmental delay | nervous | 91 % | 20118933 | 2014-06-18 | |
| Cerebellar atrophy | nervous | 83 % | 20118933 | 2014-06-18 | |
| Hypotonia | nervous | 9 % | 20118933 | 2014-06-18 |
List of references:
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Jun Shen, Edward C Gilmore, Christine A Marshall, Mary Haddadin, John J Reynolds, Wafaa Eyaid, Adria Bodell, Brenda Barry, Danielle Gleason, Kathryn Allen, Vijay S Ganesh, Bernard S Chang, Arthur Grix, R Sean Hill, Meral Topcu, Keith W Caldecott, A James Barkovich, Christopher A Walsh,
Nature genetics - Mar 2010