Phenotype #0000350104

Individual ID	00464043
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	OCNDS
Phenotype details	see paper; ..., birth weight 3345 g (25-50%); 2y-OFC 44.5 cm (<3%); developmental delay; 8m-sit; 20m-walk; 1y-speech 2 words; hypotonia, seizures or severe breath holding spell, EEG normal; MRI brain normal; extra fold in helix, inverted epicanthal folds, broad great toes; loose joints; constipation/diarrhea, delayed and disorganized oral preparatory skills, delayed swallow initiation; frequent upper respiratory infections, low IgG; short stature; mild iris coloboma vs. anisocoria; blue sclera; hyperpigmented plagues on posterior scalp
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	2025-02-14 17:50:49 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD