Phenotype #0000235216

Individual ID	00309898
Associated disease	PBD
Phenotype details	see paper; ...,uneventful pregnancy, typical craniofacial dysmorphia including large open fontanelles, high forehead, flat occiput, low/broad nasal bridge, amicrognathia; neurologic abnormalities, including hypotonia; plasma analysis elevated very long chain fatty acids, di- and trihydroxycholestanoic acid, normal phytanic acid level; erythrocyte plasmalogens undetectable; died at 10d
Diagnosis/Initial	Zellweger syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PBD13A
Age/Examination	00y00m10d (10 days)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2006-05-05 10:21:00 +02:00 (CEST)
Date last edited	2020-09-06 09:42:30 +02:00 (CEST)

Global Variome shared LOVD