Global Variome shared LOVD

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Phenotype #0000128119 Individual ID 00155716 Associated disease DPDD Phenotype details see paper; ..., healthy, history of gastrointestinal dysmotility, normal development, normal intellect, significant pregnancy-induced symptoms (severe abdominal pain, increased gastrointestinal symptoms, pancreatitis, intermittent changes in consciousness) in three consecutive pregnancies; 3rd pregnancy developed recurrent stroke-like episodes including symptoms of headaches, blurring to near loss of vision, and right hemiparesis Diagnosis/Initial dihydropyrimidine dehydrogenase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite DPDD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Enzyme/Activity - Protein - Owner name Maja Tarailo-Graovac Database submission license No license selected Created by Maja Tarailo-Graovac Date created 2018-03-25 06:40:42 +02:00 (CEST) Date last edited 2019-03-23 16:10:54 +01:00 (CET)

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