Phenotype #0000171851

Individual ID 00227845
Associated disease -
Phenotype details profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia large; frontal polymicrogyria extensive; cerebellar dysplasia; large interhemispheric and small bilateral cerebellopontine angle cysts
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name -