Phenotype #0000187376

Individual ID	00248382
Associated disease	NDD
Diagnosis/Initial	developmental delay
Diagnosis/Definite	CHOPS
Phenotype details	see paper; …, Round face, arched eyebrows, long philtrum, thin upper lip, low‐set posteriorly rotated ears; birth weight 1,560 g (−4.6SD, height 39 cm (−5.8 SD), head circumference 29 cm (−4.3 SD); latest weight 8.6 kg (−1.1 SD), height 66 cm (−4.1 SD), head circumferance 42 cm (−3.2 SD); None reported; Episodes of pneumonia and upper respiratory infection; Mixed bilateral hearing loss; Brachydactyly; small hands and feet, left fifth finger clinodactyly, single crease on left fifth finger, abnormal shape of vertebral bones, short iliac bones, small left femoral head; Short prepuce; History of constipation
Inheritance	Isolated (sporadic)
Age/Examination	01y (1 year)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-22 21:27:37 +02:00 (CEST)
Date last edited	2019-07-22 21:51:12 +02:00 (CEST)

Global Variome shared LOVD