Phenotype #0000350810

Individual ID	00465272
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	-
Phenotype details	see paper; ..., 5y-deceasaed; birth OFC 34.5 cm (-1.02); OFC 4m-38.1 cm (-3.95); cranial dysmorphism; severe developmental delay; central hypotonia, limb hypertonia; neonatal onset tonic-clonic seizures; MRI brain periventricular heterotopia, mild delay in myelination; enlarged kidneys with cystic foci, cryptorchidism; hepatomegaly with periportal echogenicity/fibrosis; patent foramen ovale, patent ductus arteriosus; overlapping fingers and toes, scoliosis, wide sandal gap; horizontal nystagmus; central apnea, feeding difficulties, hearing impairment, respiratory failure
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 years)
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