Global Variome shared LOVD

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Phenotype #0000291073 Individual ID 00397945 Associated disease WABS Diagnosis/Initial Warsaw breakage syndrome Diagnosis/Definite WABS Phenotype details see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; brain abnormalities; craniosynostosis; no heart abnormality; no hypotonia; no kidney abnormality Inheritance Isolated (sporadic) 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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