Phenotype #0000051354

Individual ID	00065247
Associated disease	CDG2
Phenotype details	Abnormal protein N-linked glycosylation (HP:0012347), no 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), no hepatomegaly (-HP:0002240), hypotonia (HP:0001252), psychomotor disability (HP:0001263), fibrosis (HP:0001395), steatosis (HP:0001397), necrotic lesions (HP:?), seizures (HP:0001250), hypercholesterolemia (HP:0003124), behavioral problems (HP:0000708), aggressiveness (HP:0000718), agitation (HP:0000713), psychotic behavior (HP:0000725)
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 11:38:36 +02:00 (CEST)
Date last edited	2017-03-19 17:43:57 +01:00 (CET)