Phenotype #0000272170

Individual ID	00376977
Associated disease	CDG
Diagnosis/Initial	congenital glycosylation disorder
Diagnosis/Definite	-
Phenotype details	birth full term, weight 3288g, length 53,3cm; length 128.3cm (-1.0SD), OFC 52cm (-0.6SD), weight 23kg (-1.6SD); no intellectual disability; developmental delay; speech delay, mixed receptive-expressive language disorder; no seizures; hypotonia; attention difficulties requiring medical therapy; failure to thrive; no narrow palpebral fissures; epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; nevus flameus; no eye abnormalities; ear thickened helix; normal extremities; hydrocele; normal carboyhdrate deficient transferrin, mild liver function tests elevation, low am cortisol, hypoalbuminemia; thin skin with visible veins, hirsuite legs, delayed bone age, chronic constipation
Inheritance	Familial, autosomal recessive
Age/Examination	11y (11 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