Phenotype #0000350824

Individual ID	00465286
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth OFC 34 cm (-0.47); OFC 42.5 cm (-3.97); cranial dysmorphism; moderate developmental delay; hypertonia; no seizures; autism, anxiety; MRI brain thin corpus callosum; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; nystagmus
Inheritance	Familial, autosomal recessive
Age/Examination	11m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-05-05 17:43:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD