Phenotype #0000356534

Individual ID	00471725
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., prolonged labor due to large for gestational age; birth at term; hypotonia in infancy; birth weight 4420g (P98, 2.0 SD); length 22.6cm (P78, - 0.8 SD), weight 125.2 cm (P99, 2.3 SD), OFC 55.8cm (P99, 2.3 SD); no global developmental delay; normal speech development; mild delay motor development; mild intellectual disability; no developmental regression ; Asperger like; autism; mildly delayed ability to sit; mildly delayed ability to walk; 17m-50 word vocabulary, 2y6m-advanced language development; 5m-seizure, epileptic spasms; h5m-EEG dypsarrhythmia, 10m-normal; uncoordinated, not good at sports, fatigues easily; mild hypotonia with increased joint mobility; autism spectrum, misses social cues and context in many situations, 13y-some perseveration; 2y-therapy for sensory integration, executive functioning; no hearing loss; no ophthalmologic abnormalities; normal cardiovascular system
Inheritance	Isolated (sporadic)
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-01-03 11:36:42 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD