Global Variome shared LOVD

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Phenotype #0000291063 Individual ID 00397934 Associated disease WABS Diagnosis/Initial Warsaw breakage syndrome Diagnosis/Definite WABS Phenotype details see paper; ..., family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; congenital hypothyroidism; no seizures; syndactyly; patent ductus arteriosus; feeding problems; multicystic kidney Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) 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 2021-12-29 17:23:25 +01:00 (CET) Date last edited 2021-12-29 17:27:29 +01:00 (CET)

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