Phenotype #0000053544

Individual ID	00017812
Associated disease	JBTS
Phenotype details	stillbirth 26w; hydranencephaly, a single nostril, and bilateral hyperechogenic kidneys, cephalocentesis, occipitofrontal circumference (OFC) of 39 cm; large fontanels and wide cranial sutures, occipital encephalocele, anophthalmia
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 20:53:11 +02:00 (CEST)
Date last edited	N/A

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