Phenotype #0000356524

Individual ID	00471715
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., normal pregnancy; birth 40w; neonatal poor feeding; birth length 50cm (P25-50), weight 4080g (P91-98); 5y3m-length 92.1cm (<P1, -2.6 SD), 3y4m-OFC 47.2cm (P2, -2.0 SD); global developmental delay; delayed speech development; delayed motor development; severe intellectual disability; no developmental regression ; secondary microcephaly; behavioral abnormalities; some autistic traits; 18m-sit; 3y7m-walk; social smile on time; 2y6m-first words; no seizure; EEG occasional subtle sharp transients in right posterior region, significance uncertain; 11y-MRI brain normal; hypotonia, hyporeflexia; midface hypoplasia, epicanthic folds, lowset & posteriorly rotated ears, saggy cheeks; normal cranial morphology; feeding difficulties, difficulties gaining weight, nasogastric tube feeding necessary; no hearing loss; glasses for left eye, visual acuity 0.3 at 1 metre; no nystagmus; normal cardiovascular system; normal spine morphology; overlapping 2nd toes, hirsutism; hypothyroidism
Inheritance	Isolated (sporadic)
Age/Examination	5y3m (5 years, 3 months)
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