Phenotype #0000287334

Individual ID	00394128
Associated disease	?
Diagnosis/Initial	developmental delay
Diagnosis/Definite	PEERB
Phenotype details	unremarkable prenatal/perinatal development; 12m-developmental delay; no illness provoked regression; 12m-sit independently, never crawled, 2y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	00y12m
Phenotype/Onset	developmental delay
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-30 16:42:10 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD