Phenotype #0000311164

Individual ID	00419895
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 40w; no failure to thrive; no global developmental delay; no gross motor delay; no fine motor delay; 12m-walk; no speech delay; mild intellectual disability; no behavioral problems; hyperactivity/ADHD; no anxiety; no microcephaly; MRI brain T2 hyperintense focal lesions in the periventricular white matter adjacent to the frontal horn and the occipital horn of the left lateral ventricle, which could correspond to perivascular virchow-robin dilations, normal corpus callosum; full lips (similar feature in mother), low-set ears, abundant hair; bushy eyebrows; long eyelashes; scoliosis and ulna valgus; hypospadias, cryptorchidism
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-24 18:06:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD