Phenotype #0000311207

Individual ID	00419940
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG2B
Phenotype details	see paper; ..., no brachycephaly; no short palperal fissure; no long eyelashes; no broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; no limb and foot defomities; no visual impairment; no nystagmus; no strabismus; small lens opacity (left), hyperopia, astigmatism; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; caries; no scoliosis; recurrent infections; no hypoventilation; no apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia;
Inheritance	Familial, autosomal recessive
Age/Examination	6y6m (6 years, 6 months)
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