Global Variome shared LOVD

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

Phenotype #0000092969 Individual ID 00117499 Associated disease JBTS14 Phenotype details molar tooth sign; hydrocephalus; posterior fossa abnormality; cortical visual impairment; cystic kidney; nystagmus; strabismus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lijia Huang Database submission license No license selected Created by Lijia Huang Date created 2013-06-25 03:14:04 +02:00 (CEST) Date last edited N/A

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