Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-28 16:11:27 +02:00 (CEST) Date last edited N/A

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