Phenotype #0000304341

Individual ID	00412336
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	last assessment late adolescence; height -0.5 SD, OFC -3 SD; microcephaly; no short stature; delayed walking (>18m, early childhood), uses braces; intellectual disability; developmental delay; isolated words, no sentences; no seizures/epilepsy, two generalized seizures, first during infancy, second as adult, since then, she is treated by valproate, no recidive under this treatment; hypotonia; normal joints; stereotypies; norml vision; recurrent otitis media; gingival hypertrophy; no GI dysmotility/feeding problems; no autism spectrum disorder, autistic features (no formal diagnosis), intolerance to frustration, unmotivated laughter; no failure to thrive; no sleeping difficulties; no skeletal abnormalities; MRI brain normal;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-27 19:18:04 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD