Phenotype #0000053545

Individual ID 00017813
Associated disease JBTS
Phenotype details stillborn 18; occipital encephalocele, bilateral hyperechogenic kidneys, partially fused eyes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-06-20 20:58:18 +02:00 (CEST)
Date last edited 2016-06-20 20:58:36 +02:00 (CEST)

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