Global Variome shared LOVD

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

Phenotype #0000272174 Individual ID 00376981 Associated disease CDG Diagnosis/Initial congenital glycosylation disorder Diagnosis/Definite - Phenotype details birth full term, weight 3323g; length 91cm (-1.7SD, 45 mo), 45m-OFC 47.5cm (-1.3SD), 45m-weight 12.7kg (-1.6SD); developmental delay; speech delay; no seizures; hypotonia; noi behavioral disturbances; concern for central apnea; MRI brain corpus callosum agenesis, periventriciular leucomalacia; failure to thrive; no narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; downslanting fissures, mild ptosis, hypertelorism; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; constipation, ansomia, nonfamilial short stature, poor weight gain Inheritance Familial, autosomal recessive Age/Examination 3y (3 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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