Global Variome shared LOVD

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

Phenotype #0000272167 Individual ID 00376974 Associated disease CDG Diagnosis/Initial congenital glycosylation disorder Diagnosis/Definite - Phenotype details birth full term, weight 3150g, length 50cm, OFC 34cm; length 148cm (-2.0SD), OFC 52cm (-2.0SD), weight 48.5kg (-0.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; noi behavioral disturbances; narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; no eye abnormalities; ears thickened helix; normal extremities; no genital abnormalities Inheritance Familial, autosomal recessive Age/Examination 16y (16 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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