Phenotype #0000311204

Individual ID	00419937
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG2B
Phenotype details	see paper; ..., 3m15d-deceased; brachycephaly; short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; cleft palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; no visual impairment; no nystagmus; no strabismus; developmental delay; hypotonia; 6w-onset seizures, focal seizures; EEG-multifocal spikes; no dental abnormalties; no scoliosis; low level of IgA; recurrent infections; hypoventilation; apnea; PDA, PFO; no constipation; hepatomegaly; hypoalbuminemia; mild elevated AST; no aminoaciduria; hydronephrosis; no hypoplastic genitalia; hepatic thrombosis; coagulation screening negative
Inheritance	Familial, autosomal recessive
Age/Examination	3m15d
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