Phenotype #0000171850

Individual ID 00227844
Associated disease -
Phenotype details severe/profound hearing loss; cochlear implant; mild motor delay, mildly increased tone ; mild, resolving communicative delay; mild, resolved cognitive impairment; controlled seizures, breath holding; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; small pineal cyst
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name -