Phenotype #0000171856

Individual ID 00227850
Associated disease -
Phenotype details severe hearing loss; no hearing aid; yes motor delay; communicative delay; mild/moderate cognitive impairment; seizures; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; left cerebellopontine angle cysts
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name -