Phenotype #0000350821

Individual ID	00465283
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth OFC 33 cm (-1.20); OFC 46.5 cm (-5.85); cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability (IQ25); hypertonia; tonic seizures, generalized tonic clonic seizures; autism, hyperactive; MRI brain hypoplastic corpus callosum; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism
Inheritance	Familial, autosomal recessive
Age/Examination	10y7m (10 years, 7 months)
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