Microcephaly, seizures and developmental delay

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