Primary microcephaly 18

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Prevalence (%) of clinical parameters based on data from 1 references describing 10 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 % 27008544 2020-01-13
Cognitive deficits nervous 100 % 27008544 2020-01-13

List of references:

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
Rotem Kadir, Tamar Harel, Barak Markus, Yonatan Perez, Anna Bakhrat, Idan Cohen, Michael Volodarsky, Miora Feintsein-Linial, Elana Chervinski, Joel Zlotogora, Sara Sivan, Ramon Y Birnbaum, Uri Abdu, Stavit Shalev, Ohad S Birk,

PLoS genetics - Mar 2016