Phenotype #0000350772

Individual ID	00465237
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	NEDRSO
Phenotype details	see paper; ..., birth spontaneous vaginal delivery, weight 2,640 g (1st centile), length 47 cm (2nd centile); normal weight; short stature (<1st centile); 6.5y-microcephaly (OFC -5.5 SD, <1st centile); spasticity; no spastic quadriparesis; no dystonia; no oromotor dysfunction; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-04-24 13:56:53 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD