Phenotype #0000272171

Individual ID	00376978
Associated disease	CDG
Diagnosis/Initial	congenital glycosylation disorder
Diagnosis/Definite	-
Phenotype details	birth full term, weight 3714g; length 119cm (-1.0SD), OFC 50cm (-0.6SD), weight 22kg (-0.6SD); developmental delay; speech delay, mixed receptive-expressive language disorder; febrile seizures; hypotonia; anxiety; MRI brain corpus callosum agenesis; no narrow palpebral fissures; no epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; periorbital fullness, nevus flameus; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; normal carboyhdrate deficient transferrin, mild alanine transaminase elevation, low am cortisol, thyroid-stimulating hormone elevation; thin skin with visible veins, hirsuite legs, chronic constipation
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 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