Phenotype #0000330480

Individual ID	00440568
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	gross motor delay, 1y-walk (earlier milestones mildly late); fine motor delay, 6m-unsteady/slow reach, now age-appropriate; no language delay, first words 7m; no intellectual disability; brief head-banging behavior, resolved; truncal +/- lower extremity hypotonia, full-body tremor (resolved); EEG normal; MRI brain 7m-normal; mildly low-set ears, anteverted nares, prominent forehead and chin, positional plagiocephaly; torticollis, inguinal hernia requiring repair, mild hypospadias w/chordee; 2m-pyloric stenosis s/p pylorotomy, mild thoracolumbar kyphosis
Inheritance	Isolated (sporadic)
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-04 13:48:07 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD