Phenotype #0000311213

Individual ID	00419946
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG2B
Phenotype details	see paper; ..., 4m-deceased; brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; mild anterior subcapsular opacity; developmental delay; intellectual disability; hypotonia; no seisures; low level of IgA, IgM; hypoventilation; apnea; atrial septal defect, LVH; hepatomegaly; ; no hypoplastic genitalia; SIADH, hypothyroidism; thrombocytopenia;
Inheritance	Familial, autosomal recessive
Age/Examination	4m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-27 12:30:38 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD