Phenotype #0000086090

Individual ID	00108613
Associated disease	ACC
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Phenotype details	MRI brain complete agenesis corpus callosum with a small pons and small inferior aspect of the midbrain. Severe cognitive impairments and global developmental delay with significant emotional/behavioral problems, including anxiety. The affected individual also has strabismus, cortical visual impairment and a history of febrile seizures.
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Ashley Marsh
Database submission license	No license selected
Created by	Ashley Marsh
Date created	2017-07-26 04:32:02 +02:00 (CEST)
Date last edited	2019-07-28 11:10:18 +02:00 (CEST)

Global Variome shared LOVD