Phenotype #0000356532

Individual ID	00471723
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., normal pregnancy; birth 32w; neonatal period normal; birth length 49cm (P97, 1.9 SD), weight 2500g (P95, 1.7 SD),; length 147cm (P8, -1.4 SD), weight 100kg (P99, 3.0 SD); global developmental delay; delayed speech development; normal motor development; learning disability; developmental regression ; no microcephaly; normal behavior; autism; sits on time; walk on time; no seizure; normal coordination; normal muscle tone; no dysmorphic features; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss; no ophthalmologic abnormalities; normal cardiovascular system; normal spine morphology; loss of acquired social skills at 24 months
Inheritance	Isolated (sporadic)
Age/Examination	13y (13 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