Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000291066 Individual ID 00397938 Associated disease WABS Diagnosis/Initial Warsaw breakage syndrome Diagnosis/Definite WABS Phenotype details family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose; no small nares; brain abnormalities; pulmonary hypoplasia; kidney dysplasia Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-30 09:50:05 +01:00 (CET) Date last edited N/A

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