Phenotype #0000207384

Individual ID	00269556
Associated disease	KBGS
Phenotype details	macrodontia; low anterior and posterior hairlines, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, ptosis, prominent nasal bridge, anteverted nostrils, long philtrum, large and prominent ears; short hands with clinodactyly of the 5th fingers and ulnar deviation of the 2nd fingers; short stature; seizures, mild-moderate intellectual disability; delayed bone age; accessory cervical ribs; cryptorchidism
Diagnosis/Initial	KBG syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-11-29 14:13:05 +01:00 (CET)
Date last edited	2019-11-29 14:34:55 +01:00 (CET)

Global Variome shared LOVD