Global Variome shared LOVD

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Phenotype #0000051361 Individual ID 00065252 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), hepatomegaly (HP:0002240), generalized hypotonia (HP:0001290), no psychomotor disability (-HP:0001263), failure to thrive (HP:0001508), redundant skin (HP:0001582), poor muscle volume (HP:?), hypoglycemia (HP:0001943), hyperammonemia (HP:0001987), progressive cholestatic liver disease (HP:0002611), liver failure (HP:0001399), hypercholesterolemia (HP:0003124), abnormal coagulation factors (HP:?), anemia (HP:0001903) 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 12:20:50 +02:00 (CEST) Date last edited 2017-03-19 17:43:57 +01:00 (CET)

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