Global Variome shared LOVD

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Phenotype #0000051350 Individual ID 00065243 Associated disease CDG2 Phenotype details Abnormal protein N-linked glycosylation (HP:0012347), Abnormal protein O-linked glycosylation (HP:0012358), elevated ATs (HP:?), elevated ALP (HP:0003155), elevated cholesterol (HP:0003124), elevated LDL-C (HP:0003141), low ceruloplasmin (HP:0010837), hepatomegaly (HP:0002240), generalized hypotonia (HP:0001290), psychomotor disability (HP:0001263), mild dysmorphic features (HP:0001999), long face (HP:0000276), ptosis (HP:0000508), blue sclerae (HP:0000592), down-slanted palpebral fissures (HP:0000494), muscle atrophy (HP:0003202) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-24 11:00:05 +02:00 (CEST) Date last edited 2017-03-19 17:43:57 +01:00 (CET)

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