Phenotype #0000356537

Individual ID	00471728
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., normal pregnancy; birth 39+6w; neonatal transient respiratory distress; birth length 48.5cm (P4, -1.7 SD), weight 3090g (P12, -1.2 SD), OFC 34cm (P12, -1.2 SD); length 160cm (P63, 0.3 SD), weight 413.kg (P24, -0.7 SD), OFC 53.8cm (P9, -1.3 SD); global developmental delay; delayed speech development; delayed motor development; learning disability; no developmental regression ; no microcephaly; ADHD, impulsivity, anxiety; no autism; <9m-sit; 18m-walk; 12m-first words, 4y-first sentences; no seizure; MRI brain normal; abnormal coordination; normal muscle tone; high palate, supernumerary nipple, thin vermilion of the upper lip; normal cranial morphology; no hearing loss; mild hypermetropia; no nystagmus; normal cardiovascular system; normal spine morphology; dyspraxia, left pectus excavatum, café-au-lait spots
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