Phenotype #0000343502

Individual ID	00454895
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	RENU
Phenotype details	see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly; severe-profound global developmental delay; mostly bum-shuffles, 7y-first wlk, can take a few steps,; no speech; intellectual disability; behavioral issues; sleep disturbance. eye poking in past. Bites hands, sticks fingers down throat; hypotonia; seizures; MRI brain abnormal, reduced white matter on MRI aged 3 months, improved on repeat MRI aged 8 years. persistent thin corpus callosum. Non-specific white matter foci.
Inheritance	Isolated (sporadic)
Age/Examination	27y (27 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