Phenotype #0000311212

Individual ID	00419945
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG2B
Phenotype details	see paper; ..., 74d-deceased; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; abnormal VER; developmental delay; intellectual disability; hypotonia; demyelinating polyneuropathy; sensorineural hearing impairment; 21d-onset seizures, rhythmic clonic jerks, rhythmic vertical eye movements and tonic spasms; EEG-uppression-burst patterns; scoliosis; low level of IgA; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; hepatomegaly, hepatosplenomegaly; mild elevated AST; hypoplastic genitalia; APTT 63.4 (<37);
Inheritance	Familial, autosomal recessive
Age/Examination	74d
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