Phenotype #0000317883

Individual ID	00426729
Associated disease	-
Phenotype details	hypertelorism, exophthalmos and frontal nevus flammeus; bilateral camptodactyly of the third finger, bilateral camptodactyly of the third finger and flexion of both elbows, a fixed position of the shoulders and stiffness in all joints, suggesting a BOS posture; abnormal vagal activity with peripheral hypertonia and bilateral profound deafness; no swallowing reflex, poor facial expression, lack of head control and nearly absent pupillary light reflex
Diagnosis/Initial	Bohring-Opitz syndrome (BOS)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-12-02 14:17:29 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD