Phenotype #0000016185

Individual ID	00017831
Associated disease	ID
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Phenotype details	see paper; moderate intellectual disability, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies (hyperactivity, short attention span, sleep disturbance, stereotypies, friendliness), MRI scan not performed, no facial dysmorphism, no eye anomalies, no other anomalies; 24m-walk; 28m-first words
Age/Examination	14y08m (14 years, 8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2014-07-01 22:09:42 +02:00 (CEST)
Date last edited	2023-02-03 12:27:13 +01:00 (CET)

Global Variome shared LOVD