Phenotype #0000309729

Individual ID	00418360
Associated disease	CHD
Inheritance	Familial, X-linked recessive
Diagnosis/Initial	congenital heart defect, left ventricular non-compaction
Age/Examination	5y (5 years)
Diagnosis/Definite	MRXS34
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, ventricular septal defect; hypotonia; language delay; gross motor delay; feeding problems; MRI brain 3m-normal; relative macrocephaly, frontal bossing, café au lait and hypopigmented macules, planovalgus
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	N/A

Global Variome shared LOVD