Phenotype #0000179836

Individual ID	00239622
Associated disease	BBIS
Phenotype details	low-birth weight, low occipital frontal circumference, growth failure, short stature, distinctive facial features, severe intellectual disability, renal anomalies, language delay, dental malocclusion and caries, delay in early fine and gross motor skills, no gynaecological issues, cardiac anomalies
Diagnosis/Initial	Beaulieu-Boycott-Innes syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BBIS
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-06-07 16:34:52 +02:00 (CEST)
Date last edited	2019-06-07 16:37:13 +02:00 (CEST)

Global Variome shared LOVD