Phenotype #0000356541

Individual ID	00471732
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., intrauterine growth restriction; birth 35+3w; neonatal hospitalized for 3 days due to neonatal jaundice; birth length 41cm (<P1, -3.0 SD), weight 1690g (<P1, -2.7 SD), OFC 31.5cm (P10, -1.3 SD); length 139cm (P31, -0.5 SD), weight 31.5kg (P16, -1.0 SD), OFC 55cm (P90, 1.3 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; no microcephaly; anxiety, tends to avoid social interactions when he doesn't know the person; 14m-sit; 23m-walk; social smile on time; 2y6m-speech "mom" and "dad", 9y-first sentences; no seizure; 4y-MRI brain small hypophysis; normal coordination; normal muscle tone; low-set ears, thin upper lip with long filtrum, retrognathia, long and narrow nose; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; discrete conductive hearing loss, better with trans-tympanic ventilation tubes; strabism; no nystagmus; normal cardiovascular system; left extra-sinus renal pelvis; normal spine morphology; 2 pneumonias with last one taken care in ICU, recurrent otitis, failure to thrive, cryptorchidism
Inheritance	Isolated (sporadic)
Age/Examination	11y1m (11 years, 1 month)
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