Phenotype #0000357131

Individual ID	00472328
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	NEDDFAC
Phenotype details	see paper; birth 40w; weight 70.8kg (SD+1.03), height 174.2cm (SD+0.59), OFC 59.5cm (SD+3.09); no gross motor delay, 11m-walk; no speech delay; no developmental delay; no intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (selective mutism at 13 y); no hypotonia; involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 15y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; macrocephaly, dolichocephaly, long face, maxillary hypoplasia; normal ears; normal eyes; long nose, bulbous nasal tip; maxillary prominence; long philtrum, prominent lips; long fingers with full/broad fingertips and prominent fingertip pads. Increased amount of creases over palm of hands and fingers b/l, some deep. Longer toes, hypoplastic b/l great toenails due to ingrown toenail removal
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-02-03 11:21:20 +01:00 (CET)
Date last edited	N/A