Phenotype #0000171847

Individual ID 00227841
Associated disease -
Phenotype details profound hearing loss; cochlear implant; no motor delay; mild, resolved communicative delay; no cognitive impairment; downslanting palpebral fissures, rotated ears, nasal voice; shunted hydrocephalus; corpus callosum probable partial agenesis; heterotopia unknown; frontal polymicrogyria unknown; cerebellar dysplasia unknown
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name -