Phenotype #0000356539

Individual ID	00471730
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., intrauterine growth restriction, gastrointestinal and urinary tract infection of the mother before birth; birth 40+2w; neonatal period normal; birth length 50cm (P12, -1.2 SD), weight 2720g (P2, -2.0 SD), OFC 33.5cm (P5, 1.7 SD); length 106.3cm (<P1, -2.4 SD), weight 16.6kg (P2, -2.1 SD), OFC 53.5cm (P85, 1.0 SD); no global developmental delay; initially normal speech development, 3y-abnormal speech development; normal motor development; mild intellectual disability; no developmental regression ; no microcephaly; suspected hyperkinesia; 6m-sit; walk on time; <2y-two-word sentences; no seizure; 5y-EEG age-appropriate basic activity, during sleep right frontal, temporo-occipital and left frontal accentuated multifocal irregular sharpwaves and spikes without generalization; 4y/6y-MRI brain multiple T2w hyperintens white matter lesions accentuated subcortical frontal bilateral and periventricular; normal coordination; normal muscle tone; graphomotor delay; micrognathia, thin upper lip, small midface; trigonocephalic aspect; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss, status post tympanostomy tubes; hyperopia, astigmatism; no nystagmus; normal cardiovascular system; normal spine morphology; short stature
Inheritance	Unknown
Age/Examination	6y (6 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