Phenotype #0000309730

Individual ID	00418361
Associated disease	CHD
Inheritance	Familial, X-linked
Diagnosis/Initial	congenital heart defect, left ventricular non-compaction
Age/Examination	01y03m (1 year, 3 months)
Diagnosis/Definite	MRXS34
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	no atrial septal defect, left ventricular non-compaction, no ventricular septal defect, patent foramen ovale; hypotonia; ischaemic brain injury; gross motor delay; no feeding problems; MRI brain 10m-underdeveloped corpus callosum, persistent cavum septum pellucidum, dilated right ventricular system, superiorly positioned fourth ventricle, mild midbrain elongation, adysplasia cerebellum and mesial surfaces occipital and inferior parietal lobules; relative macrocephaly, frontal bossing; maternal half-brother died perinatally with Ebstein anomaly, 5y maternal half-sister heart murmur
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-09-28 19:38:38 +02:00 (CEST)
Date last edited	2022-09-28 19:44:55 +02:00 (CEST)

Global Variome shared LOVD