Global Variome shared LOVD

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

Phenotype #0000051356 Individual ID 00065249 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), hypotonia (HP:0001252), liver failure (HP:0001399), mild dysmorphic features (HP:0001999), mild psychomotor disability (HP:0001263) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y00m Phenotype/Onset neonatal jaundice (HP:0006579) Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-24 11:55:22 +02:00 (CEST) Date last edited 2017-03-19 17:43:57 +01:00 (CET)

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