Phenotype #0000223189

Individual ID	00295623
Associated disease	SKDEAS
Diagnosis/Initial	WDR26 haploinsufficiency
Diagnosis/Definite	WDR26 haploinsufficiency
Phenotype details	Clinical features of our patient were intellectual disability with delayed speech, developmental delay, gait abnormalities, and characteristic facial phenotype, but absence of seizures and autism.
Inheritance	Familial, autosomal dominant
Age/Examination	10y09m (10 years, 9 months)
Age/Diagnosis	11y
Age/Onset	01y
Phenotype/Onset	developmental delay
Protein	WDR26
Owner name	Wenjuan Qiu
Database submission license
Created by	Wenjuan Qiu
Date created	2020-03-20 13:31:20 +01:00 (CET)
Date last edited	2020-03-21 14:50:59 +01:00 (CET)

Global Variome shared LOVD