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
Created by	Johan den Dunnen
Date created	2021-06-28 16:11:27 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD