Phenotype #0000327860

Individual ID	00437953
Associated disease	WITKOS
Diagnosis/Initial	-
Diagnosis/Definite	WITKOS
Phenotype details	see paper; ..., birth 42w, weight 3.345 (-0.43); ; global developmental delay; language delay, 3y-first words; 12m-sit unassisted; 2y6m-03y-first steps; no neurological hypotonia; ; thin upper lip vermilion; long philtrum; broad finger, carious teeth, eczema, failure to thrive, mild conductive hearing impairment, obstructive sleep apnoea, short foot, submucous cleft hard palate, bifid uvula
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	5y5m
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-17 21:19:59 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD