Phenotype #0000218992

Individual ID 00283671
Associated disease PBD
Phenotype details 3m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; hepatomegaly; no liver fibrosis; no raised liver enzymes; calcific stipling
Diagnosis/Initial Zellweger syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y03m (3 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Julia Lopez
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2020-02-05 13:36:16 +01:00 (CET)
Date last edited 2022-04-06 09:46:31 +02:00 (CEST)

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