Global Variome shared LOVD

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Phenotype #0000218969 Individual ID 00283631 Associated disease PBD Phenotype details 4m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; no epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; no cataract; no retinitis pigmentosa; optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; raised liver enzymes; no renal cysts Diagnosis/Initial Zellweger syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y04m (4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Julia Lopez Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2020-02-05 13:36:16 +01:00 (CET) Date last edited 2022-04-06 09:41:43 +02:00 (CEST)

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