Phenotype #0000272172

Individual ID	00376979
Associated disease	CDG
Diagnosis/Initial	congenital glycosylation disorder
Diagnosis/Definite	-
Phenotype details	birth full term, weight 3940g, length 53,3cm; OFC 50cm (0.0SD), weight 14.8kg (0.0SD); developmental delay; speech delay, mixed receptive-expressive language disorder; no seizures; hypotonia; noi behavioral disturbances; history of central apnea; 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; no genital abnormalities; normal carboyhdrate deficient transferrin, mild aspartate transaminase elevation, low am cortisol, hypercholestrolemia, iron deficiency; thin skin with visible veins, hirsuite legs, chronic constipation, gastro-esophageal reflux, obstructive sleep apnea
Inheritance	Familial, autosomal recessive
Age/Examination	6y (6 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