Phenotype #0000171849

Individual ID 00227843
Associated disease -
Phenotype details profound hearing loss; cochlear implant; no motor delay; no communicative delay; mild, resolved cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; moderate interhemispheric cyst
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name -