Phenotype #0000231375

Individual ID	00305526
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 39+4 w, weight 2400 (<-2.5 SD), OFC 37 (normal); height Normal, weight Normal, OFC (+3.0 SD); mild/moderate intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; attention deficit disorder; no sleep disturbances; facial abnormalities; no cardiac abnormalities; Tendency to chew long time before swallowing; Late ossification of anterior fontanel; Hyperkinesia; MRI-brain no holoprosencephaly, Abnormal corpus callosum with hypertrophic anterior part and thin posterior part, Virchow Robin
Inheritance	Unknown
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-28 10:52:31 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD