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)

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