Phenotype #0000307040

Individual ID	00415242
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	15y-died; birth 40w, weight 3,000 g (-1.12 SD), length 51 cm (-0.32 SD), ; no neonatal problems; 7y9m-height 114.8 cm (-1.8 SD), weight 16.8 kg (-2.56 SD), OFC 46.5 cm (-4.86 SD); 13m-sit; 3y6m-walk ; no speech; shy, stubborn, hyperactive; 5y/8y-2 occurences of tonic-clonic fever-associated seizures; hypotonia; MRI brain 4y-hypomyelination, cortical atrophy; incomplete atrioventricular canal, atrial septal defect type 2, ventricular septal defect, global progressive cardiac insufficiency with severe mitral-valve and aortic-valve insufficiency and severe cardiomegaly, which led to exitus letalis, mitral- and aortic-valve replacement and reconstruction was performed, 8y-ECG atrioventricular block; strabismus convergens alternans; recurrent infections
Inheritance	Familial, autosomal recessive
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-10 16:14:56 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD