Phenotype #0000228803

Individual ID	00301705
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	global developmental delay, growth retardation and severe microcephaly (OFC -5.5 SD below the mean), dysmorphism (small head, low anterior and posterior hair line, triangular face, prominent nose, high arched palate), hyperextensible joints, atrial septal defect (closed), absent left kidney, and cryptorchidism. MRI brain showed reduced overall white matter volume with borderline pachygyria appearance. Molecular karyotyping is normal.
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-22 17:20:34 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD