Phenotype #0000343473

Individual ID	00454866
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	RENU
Phenotype details	see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, acquired (birth 37w-normal 35cm with progression, 6y-<3rd centile); severe global developmental delay; 9m-sit, 2y6m-walk with broad based gait; no speech; intellectual disability; no behavioral issues; hypotonia (in infantile period); seizures; MRI brain abnormal, thin corpus callosum. Relatively dilated occipital horns. Loss of white matter. Abnormal signal in frontal parietal white matter.
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-30 10:26:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD