Phenotype #0000179842

Individual ID	00239628
Associated disease	BBIS
Phenotype details	mild to moderate microcephaly, facial dysmorphy, tall forehead, deep set eyes, long nose, epicanthus, low hanging columnella, no flat philtrum, retrognathia, dental problems (malocclusion/caries), severe intellectual disability, speech delay, brain anomalies, ventricular dilatation (hydrocephalus), corpus callosum dysgenesis, cardiac anomalies, no renal anomalies, no genitourinary anomalies
Diagnosis/Initial	Beaulieu-Boycott-Innes syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BBIS
Age/Examination	05y04m (5 years, 4 months)
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 17:21:16 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD