Global Variome shared LOVD

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Phenotype #0000272165 Individual ID 00376972 Associated disease CDG Diagnosis/Initial congenital glycosylation disorder Diagnosis/Definite - Phenotype details birth-36w, weight 2050g, length 44cm, OFC 33cm; length 152cm (-1.6SD), OFC 54cm (+0.5SD), weight 64kg (+0.5SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; anxiety; narrow palpebral fissures; no epicanthal folds; no increased nasal height; bulbous tip; low columella; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; strabismus, astigmatism; no ear abnormalities; normal extremities; no genital abnormalities; diabetes Inheritance Familial, autosomal recessive Age/Examination 28y (28 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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