Van Esch-O'driscoll Syndrome
VEODS

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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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
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 ╬▒-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 ├Ľunap, Jacques Jaeken, Eve Seuntjens, Koen Devriendt, Ezra Burstein, Karen J Low, Mark O'Driscoll,



American journal of human genetics - May 2019