Phenotype #0000171856

Individual ID 00227850
Associated disease CMCS
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 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 09:04:36 +02:00 (CEST)

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