Global Variome shared LOVD

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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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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)

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