Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000218986 Individual ID 00283660 Associated disease PBD Phenotype details large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; no external ear deformity; no sickle foot; poor sucking; no gavage feeding; hypotonia; severe psychomotor retardation; no seizures; no cataract; no retinitis pigmentosa; optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; raised liver enzymes; 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 09:35:37 +02:00 (CEST)

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