Phenotype #0000291071

Individual ID 00397943
Associated disease WABS
Diagnosis/Initial Warsaw breakage syndrome
Diagnosis/Definite WABS
Phenotype details see paper; ..., family history malignancy; family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; small nares; small/dysplastic ears; brain abnormalities; syndactyly; patent ductus arteriosus, atrial septal defect; 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 InternationalCreative Commons License
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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