Phenotype #0000292633

Individual ID	00399528
Associated disease	NDD
Diagnosis/Initial	Cornelia de Lange syndrome
Diagnosis/Definite	-
Phenotype details	weight 26.5 (-2), height 116 (-4.5), OFC 52 (-1); growth failure; severe developmental/intellectual delay ; not walking; speech delay, 3 y-first words, few words; hypotonia;; 3y-MRI brain normal; no cardiac anomalies; no eye anomalies; bilateral pyelectasis; normal hands; feet bilateral talipes equinovarus; scoliosis; facial dysmorphism, arched eyebrows; short nose; long philtrum; triangular mouth, arched eyebrows; short nose; long philtrum; triangular mouth; hypertrichosis
Inheritance	Isolated (sporadic)
Age/Examination	11y5m (11 years, 5 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-21 14:10:33 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD