Phenotype #0000272175

Individual ID	00376982
Associated disease	CDG
Diagnosis/Initial	congenital glycosylation disorder
Diagnosis/Definite	-
Phenotype details	birth-42w, weight 3820g; developmental delay; speech delay; no seizures; no hypotonia; noi behavioral disturbances; no narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; broad nasal bridge, hypertelorism; right-sided strabismus; low set ears; normal extremities; no genital abnormalities; decreased intake at 7 months and diagnosed with gastro-esophageal reflux at 7 months, at 9 months completely stopped intake: nasogastric tube fed, two episodes of tachycardia at rest in hospital (170-180 bpm) with no obvious cause noted in hospital and is occasionally tachycardic at home as well, gastroscopy did not show abnormalities, currently percutaneous endoscopic gastrostomy in situ
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-06-28 16:11:27 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD