Phenotype #0000157591

Individual ID	00208984
Associated disease	MR;ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	EAOH
Phenotype details	perinatal history: unremarkable, mature normotrophic newborn (weight 3,800 g, length 54 cm, head circumference 35 cm); inconspicuous infant period; primary developmental disorder with emphasis on language deficits; hyperkinetic behavioral disorder, mild to moderate mental retardation and incontinence; nonspecific dysmorphic signs with broad nose and low standing columella, flat philtrum, narrow upper lip, prominent upper jaw region, and hypopigmentation on the abdomen; somatic growth in the range P3–10.
Inheritance	Unknown
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-12-20 17:17:12 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD