Phenotype #0000291065

Individual ID 00397937
Associated disease NBS
Phenotype details microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; skin abnormalities; cochlear abnormalities; epicanthus; no small/dysplastic ears; no brain abnormalities; seizures; feeding problems;
Diagnosis/Initial Nijmegen Breakage Syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite WABS
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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