Phenotype #0000235239

Individual ID 00309925
Associated disease PBD
Phenotype details see paper; ..., cerebral hypotonia, cataract; caudal neuropore, inverted nipples; progressive clinical course; 31m-died
Diagnosis/Initial Zellweger syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 02y07m (2 years, 7 months)
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 2020-09-06 18:20:47 +02:00 (CEST)
Date last edited 2020-09-07 08:54:30 +02:00 (CEST)

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