Phenotype #0000171853

Individual ID 00227847
Associated disease CMCS
Phenotype details severe hearing loss; cochlear implant; mild motor delay; mild communicative delay; no cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia unable to score due to mass effect; large bilateral cerebellopontine angle cysts
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-05-18 08:56:33 +02:00 (CEST)
Date last edited 2012-05-18 09:03:28 +02:00 (CEST)

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