Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000171850 Individual ID 00227844 Associated disease CMCS 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 LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-05-18 08:56:33 +02:00 (CEST) Date last edited 2012-05-18 09:01:38 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.