Phenotype #0000272168

Individual ID 00376975
Associated disease CDG
Diagnosis/Initial congenital glycosylation disorder
Diagnosis/Definite -
Phenotype details birth full term, weight 3095g, length 50cm, OFC 35cm; length 148cm (-2.0SD), OFC 52cm (-2.0SD), weight 43.7kg (-2.0SD); moderate intellectual disability; developmental delay; speech delay; no seizures; hypotonia; anxiety; MRI brain corpus callosum agenesis, no cerebellar vermis hypoplasia, wide cisterna magna; narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; low columella; no smooth philtrum; short philtrum; thin upper lip; retrognatia; ptosis (right eye more affected); astigmatism; ears low set, mild protrusion; normal extremities; no genital abnormalities
Inheritance Familial, autosomal recessive
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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